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Normal Function

The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. Together, these proteins form one version of a complex known as core binding factor (CBF). The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells, early blood cells that have the potential to develop into all types of mature blood cells such as white blood cells, red blood cells, and platelets.

Health Conditions Related to Genetic Changes

Core binding factor acute myeloid leukemia.

A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO ). Because this genetic change affects CBF, the condition is classified as core binding factor AML (CBF-AML).

The resulting fusion protein, RUNX1-ETO, is able to form CBF and attach to DNA, like the normal RUNX1 protein; however, instead of turning genes on, it turns them off. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells.

Cytogenetically normal acute myeloid leukemia

MedlinePlus Genetics provides information about Cytogenetically normal acute myeloid leukemia

Juvenile idiopathic arthritis

MedlinePlus Genetics provides information about Juvenile idiopathic arthritis

Rheumatoid arthritis

MedlinePlus Genetics provides information about Rheumatoid arthritis

Systemic mastocytosis

MedlinePlus Genetics provides information about Systemic mastocytosis

Other disorders

Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. They are found only in certain cells of the body.

Other Names for This Gene

  • acute myeloid leukemia 1 protein
  • CBF-alpha-2
  • core-binding factor, runt domain, alpha subunit 2
  • oncogene AML-1
  • PEA2-alpha B
  • PEBP2-alpha B
  • polyomavirus enhancer-binding protein 2 alpha B subunit
  • runt-related transcription factor 1
  • SL3-3 enhancer factor 1 alpha B subunit
  • SL3/AKV core-binding factor alpha B subunit

Additional Information & Resources

Tests listed in the genetic testing registry.

From the National Institutes of Health

Scientific Articles on PubMed

Catalog of genes and diseases from omim.


Gene and Variant Databases

  • Goyama S, Mulloy JC. Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects. Int J Hematol. 2011 Aug;94(2):126-133. doi: 10.1007/s12185-011-0858-z. Epub 2011 May 3. Citation on PubMed
  • Goyama S, Schibler J, Cunningham L, Zhang Y, Rao Y, Nishimoto N, Nakagawa M, Olsson A, Wunderlich M, Link KA, Mizukawa B, Grimes HL, Kurokawa M, Liu PP, Huang G, Mulloy JC. Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. J Clin Invest. 2013 Sep;123(9):3876-88. doi: 10.1172/JCI68557. Epub 2013 Aug 27. Erratum In: J Clin Invest. 2013 Nov 1;123(11):4979. Citation on PubMed or Free article on PubMed Central
  • Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with PEBP2beta protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J. 2001 Feb 15;20(4):723-33. doi: 10.1093/emboj/20.4.723. Citation on PubMed or Free article on PubMed Central
  • Lam K, Zhang DE. RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis. Front Biosci (Landmark Ed). 2012 Jan 1;17(3):1120-39. doi: 10.2741/3977. Citation on PubMed or Free article on PubMed Central
  • Ran D, Shia WJ, Lo MC, Fan JB, Knorr DA, Ferrell PI, Ye Z, Yan M, Cheng L, Kaufman DS, Zhang DE. RUNX1a enhances hematopoietic lineage commitment from human embryonic stem cells and inducible pluripotent stem cells. Blood. 2013 Apr 11;121(15):2882-90. doi: 10.1182/blood-2012-08-451641. Epub 2013 Jan 31. Citation on PubMed or Free article on PubMed Central

From Genetics Home Reference

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The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

Return to Video

Horizon - Epigenetics - The Ghost In Your Genes

  • Subtitles info
  • 0:03 - 0:08 We are on the brink of uncovering a hidden world.
  • 0:08 - 0:15 A world that connects past and future generations in ways we never imagined possible.
  • 0:15 - 0:16 What this means is
  • 0:16 - 0:23 an environmental exposure that your grandmother had could cause a disease in you -
  • 0:23 - 0:26 even though you've never been exposed to the toxin -
  • 0:26 - 0:29 and you are going to pass it on to your great-grandkids.
  • 0:29 - 0:35 These extraordinary discoveries have the potential to affect every aspect of our lives.
  • 0:35 - 0:41 It's not just the genes, but also the environment in the early life of your ancestors.
  • 0:41 - 0:44 It's not so much "you are what you eat,"
  • 0:44 - 0:48 it's that you are what your mother ate, and maybe you are what your grandmother ate.
  • 0:48 - 0:54 And if you take our data, you are what stress your grandmother or grandfather had.
  • 0:54 - 1:01 It will change the way we think about our relationship with every generation.
  • 1:02 - 1:07 It makes me feel closer to my children.
  • 1:07 - 1:10 What I experience, in terms of environment,
  • 1:10 - 1:16 will have some type of a legacy in my children and my grandchildren.
  • 1:16 - 1:20 The science of inheritance is being turned on its head.
  • 1:20 - 1:25 We're changing the view of what inheritance is.
  • 1:58 - 2:05 This small Swedish town may hold the evidence to launch a medical revolution.
  • 2:05 - 2:10 Overkalix lies huddled on the edge of the Arctic Circle.
  • 2:11 - 2:19 Inaccessible and remote, it was cut off from the rest of the world for most of its history.
  • 2:19 - 2:25 Marcus Pembrey has traveled here to meet his colleague Olov Bygren.
  • 2:27 - 2:30 They believe that the story lying buried in these graveyards
  • 2:30 - 2:34 may hold the proof to their radical ideas.
  • 2:39 - 2:42 This group of people could contribute to ...
  • 2:42 - 2:46 really a sea change in the way we think about inheritance.
  • 2:46 - 2:54 They have come to this churchyard to find grandmothers and granddaughters, grandfathers and grandsons.
  • 2:54 - 3:00 Connecting people who lived almost a hundred years apart in entirely new ways.
  • 3:00 - 3:05 Uncovering links that confound scientific thinking.
  • 3:06 - 3:10 Up 'til now, inheritance is just the genes; the DNA sequence.
  • 3:10 - 3:15 I suspect that we are going to be able to demonstrate that the inheritance is more than that.
  • 3:19 - 3:22 It is the culmination of more than twenty years' work.
  • 3:24 - 3:30 And for the first time, Pembrey is confronting the magnitude of their discovery.
  • 3:30 - 3:35 It really has come alive for me - coming here - more than I had expected.
  • 3:35 - 3:40 It re... I'm really quite sort of emotional about it. Wonderful!
  • 3:45 - 3:50 Marcus Pembrey is one of a select band of scientists.
  • 3:51 - 3:56 A band of scientists who are daring to challenge an orthodoxy.
  • 3:56 - 4:06 They believe the lives of our parents, grandparents, and even our great-grandparents can directly affect our well-being,
  • 4:06 - 4:11 despite never experiencing any of these things ourselves.
  • 4:11 - 4:17 To many, these ideas are regarded as scientific heresy.
  • 4:18 - 4:22 You cannot predict where discoveries will be.
  • 4:22 - 4:26 The only thing you can do is to follow your instinct.
  • 4:28 - 4:37 Conventional biology has always believed that our genetic inheritance is set in stone at the moment of our conception.
  • 4:37 - 4:43 At that instant we each receive a set of chromosomes from both our mother and father.
  • 4:43 - 4:51 Within these chromosomes are the genes: strips of coded DNA, the basic unit of inheritance.
  • 4:52 - 4:58 After conception it was assumed that our genes are locked away inside every cell of the body,
  • 4:58 - 5:01 protected and untouched by the way you live.
  • 5:01 - 5:11 So, what you do in your life may affect you, but your genes remain untainted, unchanged for future generations.
  • 5:12 - 5:18 In classic genetics, your parents and grandparents simply pass on their genes.
  • 5:18 - 5:22 The experiences they accumulate in a lifetime are never inherited -
  • 5:22 - 5:30 - lost forever as the genes pass untouched through generation after generation.
  • 5:33 - 5:38 The biology of inheritance was a reassuringly pure process,
  • 5:38 - 5:43 or so it seemed.
  • 5:43 - 5:52 In the early 80's, Marcus Pembrey headed the clinical genetics department at Great Ormond Street Hospital for Children.
  • 5:52 - 5:58 He was frequently treating families with unusual genetic conditions.
  • 5:58 - 6:03 We were constantly coming across families which didn't fit the rules,
  • 6:03 - 6:08 didn't fit any of the patterns that genetics were supposed to fit.
  • 6:08 - 6:13 So you think of chromosome abnormalities and you check the chromosomes and they're normal,
  • 6:13 - 6:20 so you then have to start imagining - as it were - you know, what might be underlying this.
  • 6:20 - 6:26 And you were really driven to try and work it out because the families needed some help.
  • 6:26 - 6:32 The more families he saw, the more the rules of inheritance appeared to break down.
  • 6:32 - 6:39 Diseases and conditions that simply didn't fit with the textbook conventions.
  • 6:39 - 6:44 One condition in particular caught his eye: Angelman's syndrome.
  • 6:44 - 6:50 Named after Harry Angelman, the pediatrician who first described Angelman's syndrome.
  • 6:50 - 6:57 He referred to them as "Happy Puppet" children, because it described to some extent the features.
  • 6:57 - 7:02 They have a rather jerky sort of movement when they're walking.
  • 7:02 - 7:08 These children have no speech, they are severely incapacitated in terms of learning,
  • 7:08 - 7:15 but are uncharacteristically happy, and they're smiling all the time.
  • 7:17 - 7:27 The condition was caused by a genetic fault: a key sequence of DNA was missing, deleted from chromosome fifteen.
  • 7:28 - 7:30 Then we came across a paradox.
  • 7:30 - 7:36 At the same time, the same change - the same little deletion from chromosome fifteen -
  • 7:36 - 7:47 - had been clearly associated with a quite different syndrome much milder in terms of intellectual impairment: the Prader-Willi syndrome.
  • 7:49 - 7:54 These children are characterized by being very floppy at birth,
  • 7:54 - 8:03 but once they started eating properly and so on, they then had an insatiable appetite and would get very, very large.
  • 8:03 - 8:06 What Pembrey saw simply made no sense.
  • 8:06 - 8:09 Here were two completely different diseases -
  • 8:09 - 8:18 - Angelman's syndrome and Prader-Willi syndrome - being caused by exactly the same genetic fault.
  • 8:18 - 8:20 So here we had a very bizarre situation, really.
  • 8:20 - 8:28 How could anyone propose that the same deletion could cause a different syndrome?
  • 8:28 - 8:34 It appeared to Pembrey as if the simple view of inheritance was beginning to unravel.
  • 8:36 - 8:41 But his doubts were contrary to the tide of optimism sweeping the scientific community.
  • 8:44 - 8:52 In the early 1990's, the biggest project ever undertaken in biology was captivating the world.
  • 8:52 - 8:58 The Human Genome Project will be seen as the outstanding achievement in the history of mankind.
  • 8:58 - 9:06 The Human Genome Project was to be the pinnacle of a century of work on genes and genetics.
  • 9:06 - 9:11 It seemed as if the secrets of life were at our fingertips.
  • 9:12 - 9:14 The genetic blueprint of mankind.
  • 9:14 - 9:16 Mapping out maybe the whole human genetic code.
  • 9:16 - 9:20 It's a set of instructions to make a human being.
  • 9:21 - 9:25 The human genome is like a bible where everything was written down.
  • 9:25 - 9:32 The hope and the expectation was that once we had that book in front of us - and all the letters -
  • 9:32 - 9:40 - we could just read down the pages and we would understand how the body was put together.
  • 9:40 - 9:45 It would offer a complete understanding of human biology at the molecular level.
  • 9:45 - 9:53 The hope was that once the code was written down, scientists could find the genetic cause and cure for every disease.
  • 9:55 - 10:01 ... could lead to the end of diseases like cancer, Parkinson's, Alzheimer's, diabetes ... the list is endless.
  • 10:01 - 10:06 We were thinking of genes in a very mechanical way.
  • 10:06 - 10:09 We were thinking of them just in terms of the sequence of the letters.
  • 10:09 - 10:13 We were all working out how we could work out what all the letters were in the book.
  • 10:14 - 10:21 Scientists estimated that the human genome - the book of life - would contain around a hundred thousand genes.
  • 10:23 - 10:27 And then when they started sequencing, they realized that maybe a hundred thousand genes,
  • 10:27 - 10:30 then it popped down to sixty, and then it popped down to fifty,
  • 10:30 - 10:32 and slowly it went down to a much smaller number.
  • 10:32 - 10:36 In fact, we found out that the human genome is probably not as complex
  • 10:36 - 10:40 and doesn't have as many genes as plants do.
  • 10:41 - 10:49 So that then made us really question, "Well, if the genome has less genes in this species versus this species, and we're more complex potentially,
  • 10:50 - 10:51 what's going on here?"
  • 10:51 - 10:57 Now scientists estimate there are probably less than thirty thousand genes.
  • 10:58 - 11:09 We believed - I believed naively - that we would be able to find the genetic components of common diseases.
  • 11:09 - 11:11 And that's proven to be very difficult.
  • 11:11 - 11:16 The idea of "one gene, one disease" does not explain it all.
  • 11:16 - 11:21 Thirty thousand genes didn't appear enough to explain human complexity.
  • 11:21 - 11:23 There had to be something they'd missed.
  • 11:27 - 11:34 The first hints of what was missing lay in the curious paradox of the Prader-Willi and Angelman's syndromes -
  • 11:35 - 11:41 - two quite different diseases caused by exactly the same genetic fault.
  • 11:43 - 11:49 When Pembrey looked at the inheritance pattern for the conditions, he noticed something even stranger.
  • 11:49 - 11:56 What really mattered was the origin of the chromosome fifteen that had the deletion.
  • 11:56 - 12:01 If the deletion was on the chromosome fifteen that the child had inherited from father,
  • 12:01 - 12:04 then you'd have Prader-Willi syndrome,
  • 12:04 - 12:11 whereas if the deletion was inherited from the mother, you had the Angelman's syndrome.
  • 12:11 - 12:17 It was a complete surprise that the same missing strip of DNA could cause one disease when it came from the mother,
  • 12:18 - 12:22 and a completely different disease when it came from the father.
  • 12:22 - 12:25 It was as if the genes knew where they came from.
  • 12:26 - 12:35 You've got a developing fetus manifesting this condition ... how does the chromosome fifteen know where it came from?
  • 12:35 - 12:41 It - there must have been a tag or an imprint placed on that chromosome
  • 12:41 - 12:46 during either egg or sperm formation from the previous generation
  • 12:46 - 12:49 to say, "Hi! I came from mother. I came from father.
  • 12:49 - 12:52 And we are functioning differently."
  • 12:52 - 12:56 So that's the key thing: that although the DNA sequence is the same,
  • 12:56 - 13:04 the different sets of genes were being silenced depending on whether it came from the mother or from the father.
  • 13:05 - 13:12 It showed that there was clearly more to inheritance than simply the coded sequence of DNA.
  • 13:13 - 13:19 We then realized that we were dealing with what is now known as genomic imprinting.
  • 13:20 - 13:30 What genomic imprinting means is, in a nutshell, that genes have a memory of where they came from.
  • 13:32 - 13:39 Something other than just the DNA was capable of moving between generations.
  • 13:43 - 13:48 It was a tantalizing glimpse into this unknown and unexpected world.
  • 13:49 - 13:55 A hidden layer acting on, and able to directly control, how our genes function.
  • 13:57 - 14:01 It meant that inheritance was not simply about which genes you inherited,
  • 14:01 - 14:07 but whether those genes were silenced; switched on, or off.
  • 14:07 - 14:09 And you can think of it as a light switch.
  • 14:14 - 14:21 Switch on the gene, the light is shining, the gene is active, it makes the cell do a certain thing;
  • 14:22 - 14:28 or the light switch is off, everything is dark, that gene is off.
  • 14:28 - 14:34 The switches remain on or remain off. And that gives the cells their identity.
  • 14:35 - 14:39 The activity of genes was being controlled by a switch:
  • 14:40 - 14:47 the attachment of a simple chemical which dictated whether the gene was switched on or off.
  • 14:48 - 14:52 Whether those genes are turned on or off is called epigenetics.
  • 14:52 - 14:58 Epigenetics. You know, "upon" the genes.
  • 15:00 - 15:06 Not only is the sequence important of the DNA, which we've studied for a long time, (the past few decades)
  • 15:06 - 15:08 but we now understand that in addition to that
  • 15:08 - 15:14 there's this overlying epigenetic phenomenon that allows the genes to get turned on or off.
  • 15:14 - 15:20 Epigenetics could explain how a human could be created with less than thirty thousand genes,
  • 15:20 - 15:25 and why the genome project didn't provide all the answers.
  • 15:25 - 15:27 Now if we actually put epigenetics on top of it -
  • 15:27 - 15:32 - where it makes it much more complicated on whether genes get activated to a certain level and so forth -
  • 15:32 - 15:39 - then you have a complexity that can start to explain biology much more effectively than the simple sequence of the DNA.
  • 15:39 - 15:45 So clearly we have additional levels of complexity that we now need to understand that are well beyond the DNA.
  • 15:45 - 15:52 The next huge challenge for modern biology is to now decipher the epigenetic code
  • 15:52 - 15:57 and to understand all the combinations of switches that exist.
  • 15:58 - 16:05 An accurate chemical map of the human genome tells us surprisingly little about how it actually works.
  • 16:06 - 16:14 Transcribing the code of the genes - the genome project - is not an end, but simply a beginning.
  • 16:20 - 16:31 If inheritance was not just about DNA, if these gene switches were so important, just what could turn them on, or off?
  • 16:40 - 16:46 Stephanie and Amon Mullins have two children: Ciaran and Charlotte.
  • 16:46 - 16:52 When you are trying to conceive, and you see all your friends around you getting pregnant, having children,
  • 16:52 - 16:55 as each month went on you become more and more desperate.
  • 16:56 - 16:59 Doctors recommended IVF treatment.
  • 16:59 - 17:08 In the UK alone, around eight thousand babies are conceived every year using assisted reproduction techniques like IVF.
  • 17:10 - 17:15 After the third attempt, Stephanie became pregnant with Ciaran.
  • 17:15 - 17:20 At the time they didn't really highlight any risks to us.
  • 17:21 - 17:28 And then we went for a routine scan, and I did feel that the scan was taking an awful long time.
  • 17:31 - 17:37 Basically what they'd found was something called an exomphalus on Ciaran's abdomen,
  • 17:37 - 17:44 which basically means that part of the bowel is still on the outside of the abdomen.
  • 17:45 - 17:51 Doctors suspected that Ciaran might be suffering from Beckwith-Wiedemann syndrome,
  • 17:51 - 18:00 a rare condition where babies are born very large, often have oversized tongues, and have a high risk of developing childhood cancers.
  • 18:01 - 18:06 They couldn't say one hundred percent that the baby did have Beckwith-Wiedemann syndrome,
  • 18:06 - 18:08 but it was showing signs.
  • 18:09 - 18:14 They could see his tongue protruding on the scan,
  • 18:14 - 18:19 and he said that he had very big thighs,
  • 18:19 - 18:24 but until Ciaran was actually born, we didn't know how severely affected he was going to be.
  • 18:26 - 18:32 When Ciaran was born, it was clear he did indeed have Beckwith-Wiedemann syndrome.
  • 18:34 - 18:37 Within a few hours of the birth,
  • 18:37 - 18:45 Ciaran had to have surgery to have the bowel that was on the outside of the abdomen basically put back inside, repaired.
  • 18:46 - 18:56 Ciaran also had surgery to reduce the size of his tongue, and every few months he has scans to check for tumors.
  • 19:00 - 19:06 Cases of Beckwith-Wiedemann syndrome caught the attention of Wolf Reik.
  • 19:10 - 19:14 Wolf Reik worked in developmental genetics.
  • 19:14 - 19:18 He was fascinated by the emerging epigenetic ghost world.
  • 19:18 - 19:23 He wanted to know what could throw the switches on or off.
  • 19:25 - 19:34 To his surprise, he found that simply placing a mouse embryo in a culture dish could trigger genes to switch off.
  • 19:36 - 19:44 After we had seen how relatively easy it was to change the switches in mouse embryos,
  • 19:44 - 19:50 we thought that perhaps the same could be true of human embryos.
  • 19:51 - 19:58 In IVF you also have the embryo for a brief period of time in a culture dish.
  • 19:58 - 20:03 And so we were asking the question whether, as in the mouse embryo,
  • 20:03 - 20:13 the mere fact of human embryos having been in a culture dish or being manipulated could alter their epigenetic switches.
  • 20:15 - 20:20 Wolf knew that Beckwith-Wiedemann syndrome was caused by a faulty switch.
  • 20:20 - 20:28 So what we were looking at was a group of babies and children that have Beckwith-Wiedemann syndrome.
  • 20:28 - 20:32 What proportion of those were conceived by IVF?
  • 20:33 - 20:40 Could IVF be switching genes on or off? Could IVF itself cause the syndrome?
  • 20:42 - 20:52 What we found was an increased occurrence of this epigenetic syndrome in the IVF population.
  • 20:52 - 21:00 Although the disease is extremely rare, the risk appeared to increase three to four times with IVF.
  • 21:00 - 21:07 It seemed that the simple act of removing the embryo from its natural environment could trigger the disease.
  • 21:08 - 21:15 And we do feel frustrated that Ciaran might possibly have Wiedemann syndrome because we had IVF.
  • 21:15 - 21:19 But at the time it was the right decision to make.
  • 21:19 - 21:23 And I think that's why we should look again at the IVF procedures,
  • 21:23 - 21:25 the conditions that are being used,
  • 21:25 - 21:34 and carry out better and more precise experiments to see how we can avoid throwing these epigenetic switches.
  • 21:37 - 21:44 Wolf had shown a simple change in environment was enough to turn a gene on or off, but there was more.
  • 21:50 - 21:54 Everyone thought that any altered switches could not be inherited.
  • 21:56 - 22:00 He took some mice with altered gene switches and bred them.
  • 22:01 - 22:13 Our expectation was that as the altered genome was passed to the children that any epigenetic changes would be wiped clean.
  • 22:15 - 22:20 When he looked at the gene profile of the offspring he was amazed.
  • 22:21 - 22:27 You have dots that we were looking at, and every dot means a gene is on.
  • 22:28 - 22:32 And all of the sudden you know somebody said, "Wow - look at that."
  • 22:32 - 22:39 The epigenetic switch thrown in one generation was clearly also present in the second generation.
  • 22:40 - 22:44 Nobody had seen this kind of thing before. This was the first time.
  • 22:44 - 22:49 And all the people looking at the gel and saying, "No, this can't be right, it's the wrong gel."
  • 22:49 - 22:56 And you know, you get excited about it and you think, "Oh, maybe this is wrong," and you're not on the right track.
  • 22:56 - 23:03 And we were very excited - as excited as scientists ever get.
  • 23:05 - 23:09 This meant that the genes were not locked away.
  • 23:09 - 23:14 A simple environmental event could affect the way genes worked.
  • 23:14 - 23:24 And that could be inherited, as if a memory of an event was being passed down through generations.
  • 23:24 - 23:28 It was something many scientists regarded as impossible.
  • 23:28 - 23:33 If this effect could be observed in humans the implications would be profound.
  • 23:33 - 23:44 It would mean that what we experience could affect not just us, but our children and our grandchildren.
  • 23:50 - 23:58 While these observations were just emerging from laboratories, Pembrey was still working at Great Ormond Street.
  • 23:58 - 24:04 He began to wonder why these links between generations would exist.
  • 24:04 - 24:13 Now my reputation was made as a clinical geneticist, so I was much freer to speculate outside my main career.
  • 24:15 - 24:22 I also like to stir things up a bit. And it amuses me to speculate because I've got nothing to lose.
  • 24:22 - 24:26 And if I'm right, well then that's very amusing.
  • 24:27 - 24:33 He speculated why genes would carry a memory from one generation to the next.
  • 24:33 - 24:37 What evolutionary purpose could it serve?
  • 24:38 - 24:44 Maybe imprinting was used as a means of some sort of trans-generational adaptation.
  • 24:47 - 24:54 He thought it could be used for a mother to send messages to her baby in the next generation.
  • 24:56 - 24:58 Something that always puzzled me ever since I was a medical student was
  • 24:58 - 25:02 what stops the baby's head jamming up in the birth canal?
  • 25:02 - 25:08 The baby was grown in one generation, but the mother's pelvis was grown in the previous generation.
  • 25:08 - 25:13 So if the mother was starving when she was growing, (so she had a small pelvis)
  • 25:13 - 25:25 maybe her eggs had captured that information and so they were instructing the growth genes of the future babies to not work so much,
  • 25:25 - 25:29 and for the baby not to grow too much so as to jam up the birth canal.
  • 25:29 - 25:33 So, there was some sort of coordination between growth in two generations.
  • 25:33 - 25:36 That struck me as entirely reasonable.
  • 25:36 - 25:41 He published his ideas in an obscure journal and largely forgot about it.
  • 25:41 - 25:46 After all, there was no evidence for any of this. It was pure speculation.
  • 25:49 - 25:53 Then four years later Marcus received an email from a doctor in Sweden.
  • 25:54 - 25:56 It really came as a bolt out of the blue.
  • 25:56 - 26:08 I'd just got an email in May 2000 saying my paper was the only thing he could find in the literature that in any way sort of tied in with his basic observations.
  • 26:09 - 26:12 The email was sent by Olov Bygren.
  • 26:12 - 26:19 He was studying the population records of an obscure town in northern Sweden: Overkalix.
  • 26:24 - 26:27 What made these records unique was their detail.
  • 26:27 - 26:30 They recorded births and deaths over hundreds of years.
  • 26:30 - 26:34 They also had accurate details of the harvests.
  • 26:39 - 26:47 More significantly, Overkalix's isolated location on the Arctic Circle meant that it was particularly vulnerable to famine.
  • 26:53 - 26:57 In the nineteenth century this was a very isolated area.
  • 26:57 - 27:00 They could not have help from outside.
  • 27:00 - 27:06 As it was so poor, they really had a hard time when there was a famine.
  • 27:06 - 27:12 And they really had a good time when the harvests were good.
  • 27:14 - 27:20 Bygren appeared to be seeing links between generations that confounded his expectations.
  • 27:20 - 27:30 I sent Marcus Pembrey an email telling him that we had some data which could interest him.
  • 27:33 - 27:37 I was terribly exited to get this completely out of the blue,
  • 27:39 - 27:45 and for the first time it seemed that there was some data that we could then start to explore.
  • 27:45 - 27:48 So that was the beginning of our collaboration.
  • 27:48 - 27:52 Overkalix offered Pembrey a unique opportunity
  • 27:52 - 27:59 to see if the events that happened in one generation could affect another, decades later.
  • 28:07 - 28:11 While Pembrey and Bygren sifted through the Overkalix data,
  • 28:11 - 28:17 someone else had stumbled on another group of people that caught them by surprise.
  • 28:20 - 28:26 Rachel Yehuda is a psychologist. She's interested in how people respond to stress.
  • 28:26 - 28:34 Well trans-generational effects were not on my radar screen at all, until we opened up a clinic for the treatment of Holocaust survivors.
  • 28:38 - 28:42 While treating the Holocaust survivors for stress,
  • 28:42 - 28:48 she was surprised that many of the children of the survivors were themselves suffering stress effects.
  • 28:48 - 28:54 About five children of Holocaust survivors were calling us for Holocaust survivor,
  • 28:54 - 29:05 and what these children said is that they were casualties of the Holocaust too - that they had been affected by the Holocaust indirectly.
  • 29:05 - 29:11 She was convinced that the stress in the children was caused by continual re-telling of the stories by their parents.
  • 29:15 - 29:18 Our studies had really convinced me
  • 29:18 - 29:31 that it were the early experiences of the child as the child was growing up bombarded with years and years of symptoms from the parents
  • 29:31 - 29:35 that accounted for the effect that we observed.
  • 29:35 - 29:42 However, in Edinburgh, Jonathan Seckl was interested in stress exposure in pregnant women
  • 29:42 - 29:47 and wondered if stress effects could be transmitted to their children.
  • 29:47 - 29:56 He started some experiments with pregnant rats to see if exposing them to stress hormones had any effect on their offspring.
  • 29:56 - 30:01 And we found the next generation, for the rest of their lifespan,
  • 30:01 - 30:07 those animals had altered stress responses and showed behavior that looked like anxiety.
  • 30:07 - 30:10 To see if this was affecting the genes themselves,
  • 30:10 - 30:19 he decided to breed them and see if the stress effects could be found in generations never exposed to the stress hormone.
  • 30:19 - 30:25 And their daughters and sons also got the propensity for abnormal stress responses.
  • 30:25 - 30:34 For Seckl the only explanation was that a stressful event was throwing a switch on a gene which was then being inherited.
  • 30:39 - 30:43 His work might have stopped there, until world events took a hand.
  • 30:46 - 30:50 When on 9-11 the planes crashed and the towers came down,
  • 30:50 - 31:00 Yehuda and Seckl were critically aware of the potential for the impact to be far-reaching - even affecting generations yet to be born.
  • 31:00 - 31:04 Ailsa Gilliam was working in a building next to the towers.
  • 31:04 - 31:13 As I left my building coming out through the doors, there was a lot of ash floating through the air, and some office papers.
  • 31:13 - 31:19 I knew that if I looked up I may see something I didn't want to see.
  • 31:19 - 31:28 Just the thought that people had died close to me? I broke down. I got very upset.
  • 31:29 - 31:31 Well I wanted to get out of the environment.
  • 31:31 - 31:40 Being pregnant, I did not want to open myself up to more emotional uncertainty and emotional distress.
  • 31:41 - 31:50 After the events of 9-11 unfolded, Yehuda and Seckl teamed up to study women like Ailsa who were pregnant at the time.
  • 31:50 - 31:57 There were a lot of different opportunities to examine what the effects of 9-11 would be
  • 31:57 - 32:05 on the children who might be born to parents who developed Post-Traumatic Stress Disorder in response to 9-11,
  • 32:05 - 32:10 and particularly those who had been exposed in utero.
  • 32:20 - 32:28 When exposed to a stressful event a person produces cortisol, a hormone that helps regulate the body's response to that stress.
  • 32:28 - 32:40 If cortisol levels are too low, a person finds coping with stress very difficult and are prone to PTSD: Post-Traumatic Stress Disorder.
  • 32:40 - 32:45 But could this effect be transmitted to their offspring?
  • 32:45 - 32:51 They found nearly two hundred women of whom a number had actually been in the twin towers.
  • 32:55 - 33:00 About half of them developed Post-Traumatic Stress Disorder.
  • 33:00 - 33:06 We then looked at those women and found they had abnormal cortisol in their saliva.
  • 33:06 - 33:10 The most striking finding was, so did their babies.
  • 33:12 - 33:15 The argument in the Holocaust survivors had been that
  • 33:15 - 33:20 their children showed abnormal stress hormones
  • 33:20 - 33:28 because they themselves had been stressed by listening to the tales recounted by their parents of their awful exposures during the 1940's.
  • 33:28 - 33:33 That could not be the case with the 9-11 survivors. These babies were one year old.
  • 33:35 - 33:44 Not only did infants have lower cortisol levels, but they were different depending on how pregnant the mother was on 9-11.
  • 33:44 - 33:51 The main effect was only seen with those mothers with PTSD who were pregnant in the last third of pregnancy.
  • 33:51 - 33:57 Mothers with equal levels of PTSD who were pregnant in the first and second third of pregnancy at 9-11 ...
  • 33:57 - 34:00 ... it was very little effect on the baby's cortisol.
  • 34:00 - 34:03 It suggested to us that it couldn't just be about genetics,
  • 34:03 - 34:08 but there was something that was being transmitted in the late stages of pregnancy
  • 34:08 - 34:17 where the mother's symptoms were having some effect on the development of the offspring's cortisol system.
  • 34:19 - 34:26 It appeared that epigenetics might be responsible; that an event had altered the stress response in the children.
  • 34:26 - 34:30 What these findings did was suggest to us
  • 34:30 - 34:35 that we need to be looking where we hadn't even considered looking before.
  • 34:35 - 34:39 To know for certain that this was an epigenetic effect
  • 34:39 - 34:45 they'll need to be sure that their observations weren't simply due to high levels of stress hormones in the womb.
  • 34:45 - 34:49 Now, (and here is the bit where we have to speculate)
  • 34:49 - 34:56 the animal work would suggest that this might then persist into the next generation.
  • 34:56 - 35:01 If they find the same stress effects in the children's children of 9-11
  • 35:01 - 35:09 then it will be clear that a genetic memory of a stressful event can travel through the generations.
  • 35:09 - 35:11 That's the key thing next to find out.
  • 35:11 - 35:19 But the 9-11 population will be very, very important for us to be able to follow what is a single discrete event.
  • 35:19 - 35:26 The work of Yehuda and Seckl offers tantalizing evidence of proof of inherited epigenetic effects in humans,
  • 35:26 - 35:32 but they need data that extends beyond just one generation.
  • 35:35 - 35:39 The only way forward was to look back to the past.
  • 35:39 - 35:49 In Sweden, Pembrey and Bygren had data that provided the chance to study the effects of famine through many generations.
  • 35:54 - 36:03 Olov Bygren was looking to see if poor nutrition had an effect on health, when he stumbled on something curious.
  • 36:10 - 36:18 It appeared that a famine could affect people almost a hundred years later, even if they never suffered a famine themselves.
  • 36:20 - 36:25 He wanted to know how this might be possible, so he asked Marcus Pembrey.
  • 36:27 - 36:36 Olov first reported that the food supply of the ancestors was affecting the longevity or mortality rate of the grandchildren.
  • 36:38 - 36:41 So I was very excited. I responded immediately.
  • 36:42 - 36:50 Pembrey had a hunch that the incidents of one disease, diabetes, might be an indicator that epigenetics was involved.
  • 36:50 - 36:58 Specifically I wanted to know the results of the diabetes because this was the one that I thought might involve the imprinting.
  • 36:59 - 37:03 So Olov trawled the records for any deaths due to diabetes
  • 37:03 - 37:09 and then looked back to see if there was anything unusual about the diet of their grandparents.
  • 37:11 - 37:19 A few months later, he emailed me to say that indeed they had shown a strong association
  • 37:19 - 37:30 between the food supply of the father's father and the chance of diabetes being mentioned on the death certificate of the grandchild.
  • 37:30 - 37:34 So of course I was really rather excited by that
  • 37:34 - 37:39 because it really did look as if there was some trans-generational effect going on there.
  • 37:40 - 37:47 It looked as if there were clear links through the generations between grandparents and grandchildren.
  • 37:47 - 37:54 They found that the life expectancy of grandchildren was being directly affected by the diet of the grandparent.
  • 37:56 - 38:03 It appeared that Overkalix held the key to finding the first evidence of epigenetic inheritance in humans.
  • 38:05 - 38:12 It really did look as if there was some new mechanism transmitting environmental exposure information from one generation to the next.
  • 38:15 - 38:24 Because these ideas were so heretical, Pembrey knew these results could be dismissed as nothing more than a curiosity.
  • 38:25 - 38:29 They needed to get an understanding of how all this was happening.
  • 38:29 - 38:35 How could the grandparent capture the information that was affecting the grandchildren?
  • 38:37 - 38:45 We wanted to tease out when you could trigger in the ancestor a trans-generational response.
  • 38:46 - 38:50 So he and Bygren went back to the data and looked again.
  • 38:50 - 38:54 The more they looked, the more patterns started to appear.
  • 38:55 - 38:59 We were able to look at the food supply.
  • 39:00 - 39:08 Every year in the grandfather and the grandmother from the moment they were conceived right through until the age of twenty.
  • 39:08 - 39:13 We found that there were only certain periods in the ancestor's development
  • 39:13 - 39:23 when they can trigger this trans-generational response - their, what one might call, "sensitive periods" of development.
  • 39:23 - 39:32 They discovered that when a famine was able to trigger an effect was different for the grandmother than the grandfather.
  • 39:33 - 39:39 The grandmother appear susceptible while she herself was still in the womb,
  • 39:39 - 39:43 while the grandfather was affected just before puberty.
  • 39:45 - 39:48 And the timing of these sensitive periods was telling us
  • 39:48 - 39:53 that it was tied in with the formation of the eggs and the sperm.
  • 39:53 - 39:58 This was critical, because now they knew how it was happening.
  • 39:59 - 40:07 Environmental information was being imprinted on the egg and sperm at the time of their formation.
  • 40:07 - 40:15 At last a clear picture of an inherited environmental effect was beginning to emerge.
  • 40:16 - 40:21 All they needed to do now was to compile their findings.
  • 40:21 - 40:27 Bygren drew up a rough diagram and sent it to Pembrey.
  • 40:29 - 40:31 Hand-drawn, this is what Olov sent me.
  • 40:31 - 40:34 You know, he was too excited to wait for the thing to be drawn out, probably.
  • 40:34 - 40:36 You know, he sent me the data.
  • 40:36 - 40:40 And in fact I was recovering from having something done to my heart,
  • 40:40 - 40:48 so he sent it saying, "I hope this helps you get better quickly," because he was so excited.
  • 40:48 - 40:55 When Pembrey plotted out the diagram, he was immediately struck by its significance.
  • 40:55 - 41:03 Once I had plotted out the full extent of those results, it was so beautiful and such a clear pattern.
  • 41:03 - 41:09 I knew then quite definitely that we were dealing with a trans-generational response.
  • 41:09 - 41:11 It was so coherent.
  • 41:11 - 41:16 And that's important in science, that the effect was coherent in some way.
  • 41:16 - 41:20 It was tying in when eggs and sperm were being formed.
  • 41:20 - 41:30 The diagram showed a significant link between generations: between the diet in one and the life expectancy of another.
  • 41:30 - 41:45 When you think that you have found something important for the understanding of the science itself you can then imagine that this is something really special.
  • 41:46 - 41:50 It's up there with - I'm a sort of fair weather supporter of Liverpool -
  • 41:50 - 41:54 - it's up there with Liverpool winning the Champions League.
  • 41:54 - 41:58 You can only have it once in your lifetime.
  • 41:58 - 42:01 This is going to become a famous diagram, I'm convinced about that.
  • 42:01 - 42:03 I get so excited every time I see it.
  • 42:03 - 42:12 It's just amazing. Every time I look at it I find it really exciting. It's fantastic.
  • 42:12 - 42:23 Pembrey and Bygren have the first conclusive proof of an environmental effect being inherited by humans.
  • 42:26 - 42:33 The impact of a famine being captured by the genes in the eggs and sperm,
  • 42:33 - 42:42 and a memory of this event was being carried forward to effect the grandchildren generations later.
  • 42:42 - 42:46 We're changing the view of what inheritance is.
  • 42:46 - 42:57 You can't in life - in ordinary development and living - separate out the gene from the environmental effect, they're so intertwined.
  • 42:57 - 43:03 Pembrey and Bygren's work showed clearly that what our grandparents ate could affect our health.
  • 43:03 - 43:10 Increasingly, it appeared as if all sorts of environmental events were capable of affecting the genes.
  • 43:10 - 43:18 And in Washington State, Mike Skinner stumbled on some results with profound implications.
  • 43:18 - 43:23 He triggered an effect with commonly used pesticides and fungicides.
  • 43:23 - 43:31 He exposed a pregnant rat to a high dose of one of these pesticides and then looked for effects in her offspring.
  • 43:31 - 43:36 And so I treated the animals (the pregnant mother) with these compounds,
  • 43:36 - 43:43 and then we started seeing - between six months to a year - a whole host of other diseases that we didn't expect.
  • 43:43 - 43:53 And this ranged between tumors such as breast and skin tumors, prostate disease, kidney disease, and immune dysfunction.
  • 43:54 - 44:01 He bred these rats to see if the effects persisted into subsequent generations.
  • 44:01 - 44:07 The next step was for us to go to the next generation, and then go to the third generation out, and the same disease state occurs.
  • 44:07 - 44:13 So after we did several repeats and got the third generation showing it and then a fourth generation
  • 44:13 - 44:17 we sat back and realized that the phenomenon was real.
  • 44:17 - 44:24 We started seeing these major diseases occur in approximately eighty-five percent of all the animals of every single generation.
  • 44:24 - 44:28 His discoveries were a revelation.
  • 44:28 - 44:35 We knew that if an individual was exposed to an environmental toxin that they can get a disease state potentially.
  • 44:35 - 44:42 The new phenomenon is that an environmental toxin no longer affects just the individual exposed,
  • 44:42 - 44:46 but two or three generations down the line.
  • 44:46 - 44:49 I knew that epigenetics existed,
  • 44:49 - 44:54 I knew that it was a controlling factor for DNA activity where the genes are silenced or not,
  • 44:55 - 45:01 but to say that epigenetics would have a major role in disease development ... I had no concept of that.
  • 45:01 - 45:04 The fact that this could have such a huge impact
  • 45:04 - 45:11 and could explain a whole host of things we couldn't explain before took a while to actually sink in.
  • 45:13 - 45:23 The exposure of a single animal to a toxin was causing a whole range of diseases in almost every individual of the following generations.
  • 45:23 - 45:29 And because epigenetic effects have been observed in humans this may have implications for us, too.
  • 45:29 - 45:35 What this means then is what your grandmother was exposed to when she was pregnant
  • 45:35 - 45:37 could cause a disease in you
  • 45:37 - 45:38 even though you had no exposure
  • 45:38 - 45:43 - and you're going to pass it on to your great-grandchildren.
  • 45:46 - 45:55 The work of these scientists is at last throwing a spotlight onto the mysterious hidden world of epigenetics.
  • 45:55 - 46:02 They appear to show that the lives of our ancestors have a capacity to affect us directly.
  • 46:03 - 46:11 These results are provocative. Some find them difficult to accept.
  • 46:11 - 46:21 But it's quite clear now that a number of laboratories are finding similar findings in the various systems that they are interested in.
  • 46:21 - 46:24 So the phenomena are there.
  • 46:25 - 46:30 Epigenetics has the capacity to reach into every aspect of our lives,
  • 46:30 - 46:36 and links our past, present and future in previously unimagined ways.
  • 46:36 - 46:40 I think this will be the next revolution in molecular biology.
  • 46:40 - 46:45 This really could be a paradigm shift we really did not expect. It could explain a lot of things.
  • 46:45 - 46:54 There are many diseases - very common diseases such as Alzheimer's disease of the brain, diabetes -
  • 46:54 - 46:58 - which are very difficult to explain currently genetically.
  • 46:58 - 47:06 Maybe a lot of these kind of very common diseases are actually caused by epigenetic switches.
  • 47:06 - 47:11 We are just at the beginning. There is much that is unknown.
  • 47:11 - 47:18 But what is clear is that it will change the way we think about ourselves forever.
  • 47:18 - 47:22 I've thought of nothing else, really, for the past five years.
  • 47:22 - 47:27 It is said the first time one had a photograph of the earth -
  • 47:27 - 47:35 - you know, this sort of delicate thing sailing through the universe -
  • 47:35 - 47:43 - it had a huge effect on the sort of "save the planet" type of feeling.
  • 47:43 - 47:51 I'm sure that's part of why the future generation thinks in a planetary way, because they've actually seen that picture, you know.
  • 47:51 - 47:54 And this might be the same.
  • 47:54 - 48:09 It may get to a point where they realize that you live your life as a sort of guardian of your genome.
  • 48:09 - 48:13 You've got to be careful of it because it's just not you.
  • 48:13 - 48:15 You can't be selfish because you can't say,
  • 48:15 - 48:22 "Well I'll smoke, or I'll do whatever it is, because I'm prepared to die early."
  • 48:22 - 48:28 You're also looking after it for your children and grandchildren.

Biology stands on the brink of a shift in the understanding of inheritance. The discovery of epigenetics -- hidden influences upon the genes -- could affect every aspect of our lives.

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At the heart of this new field is a simple but contentious idea -- that genes have a 'memory'. That the lives of your grandparents -- the air they breathed, the food they ate, even the things they saw -- can directly affect you, decades later, despite your never experiencing these things yourself. And that what you do in your lifetime could in turn affect your grandchildren.

The conventional view is that DNA carries all our heritable information and that nothing an individual does in their lifetime will be biologically passed to their children. To many scientists, epigenetics amounts to a heresy, calling into question the accepted view of the DNA sequence -- a cornerstone on which modern biology sits.

Epigenetics adds a whole new layer to genes beyond the DNA. It proposes a control system of 'switches' that turn genes on or off -- and suggests that things people experience, like nutrition and stress, can control these switches and cause heritable effects in humans.

In a remote town in northern Sweden there is evidence for this radical idea. Lying in Överkalix's parish registries of births and deaths and its detailed harvest records is a secret that confounds traditional scientific thinking. Marcus Pembrey, a Professor of Clinical Genetics at the Institute of Child Health in London, in collaboration with Swedish researcher Lars Olov Bygren, has found evidence in these records of an environmental effect being passed down the generations. They have shown that a famine at critical times in the lives of the grandparents can affect the life expectancy of the grandchildren. This is the first evidence that an environmental effect can be inherited in humans.

In other independent groups around the world, the first hints that there is more to inheritance than just the genes are coming to light. The mechanism by which this extraordinary discovery can be explained is starting to be revealed.

Professor Wolf Reik, at the Babraham Institute in Cambridge, has spent years studying this hidden ghost world. He has found that merely manipulating mice embryos is enough to set off 'switches' that turn genes on or off.

For mothers like Stephanie Mullins, who had her first child by in vitro fertilisation, this has profound implications. It means it is possible that the IVF procedure caused her son Ciaran to be born with Beckwith-Wiedemann Syndrome -- a rare disorder linked to abnormal gene expression. It has been shown that babies conceived by IVF have a three- to four-fold increased chance of developing this condition.

And Reik's work has gone further, showing that these switches themselves can be inherited. This means that a 'memory' of an event could be passed through generations. A simple environmental effect could switch genes on or off -- and this change could be inherited.

His research has demonstrated that genes and the environment are not mutually exclusive but are inextricably intertwined, one affecting the other.

The idea that inheritance is not just about which genes you inherit but whether these are switched on or off is a whole new frontier in biology. It raises questions with huge implications, and means the search will be on to find what sort of environmental effects can affect these switches.

After the tragic events of September 11th 2001, Rachel Yehuda, a psychologist at the Mount Sinai School of Medicine in New York, studied the effects of stress on a group of women who were inside or near the World Trade Center and were pregnant at the time. Produced in conjunction with Jonathan Seckl, an Edinburgh doctor, her results suggest that stress effects can pass down generations. Meanwhile research at Washington State University points to toxic effects -- like exposure to fungicides or pesticides -- causing biological changes in rats that persist for at least four generations.

This work is at the forefront of a paradigm shift in scientific thinking. It will change the way the causes of disease are viewed, as well as the importance of lifestyles and family relationships. What people do no longer just affects themselves, but can determine the health of their children and grandchildren in decades to come. "We are," as Marcus Pembrey says, "all guardians of our genome."

English subtitles

  • Revision 6 stonogabeznoga

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  • What are BUFVC and TRILT?
  • What’s BioethicsBytes all about?

Epigenetics – The ghost in your genes

The BBC Horizon documentary The ghost in your genes , successfully explains a particularly complex field of science. Genetic inheritance has historically been thought of as involving the transmission of DNA from one generation to the next affected by occasional mutations in the DNA itself (00:04:37 – 00:05:50). “Up to now, inheritance is just the genes, the DNA sequence. I suspect that we’re going to be able to demonstrate that inheritance is more than that”, explains Professor Marcus Pembrey from the Institute of Child Health, UCL. A few scientists had hypothesised that the conventional genetic model and mode of inheritance was too simplistic to explain the complexity of human beings. The revelation that the human genome likely contains only about 30,000 genes (00:08:54 – 00:11:33), coupled with increasing experimental evidence, now leads scientists to believe that other factors allow genes to be switched on and off in response to environmental stimuli. The consequences of which may affect subsequent generations.

In the early 1980s, Professor Pembrey was Head of the Clinical Genetics Department at Great Ormond Street Hospital, London (00:05:50 – 00:08:58 and 00:11:33 -00:16:47). He was often presented with families exhibiting unconventional genetic inheritance patterns. This drew his attention to two genetic diseases;

  • Angelman syndrome , which displays clinical symptoms of jerky movements, little or no speech and a very happy personality
  • Prader-Willi syndrome , patients are found to be very floppy in infancy and develop an insatiable appetite associated with obesity in later life

He worked out that these two completely different diseases were caused by the same genetic alteration, a small deletion on chromosome 15. What was even more remarkable was that the parent from whom the mutation was inherited determined which disease was observed in the patient. If it was inherited from the mother then the child would have Angelman syndrome; from the father then the child would have Prader-Willi syndrome.  This phenomenon suggested that the chromosome somehow ‘knew’ its origin and therefore must be tagged or imprinted in some way – this has become known as ‘ genomic imprinting ‘. During sperm or egg production, a chemical change results in the same DNA sequence on each chromosome having different functional properties. These events can lead to a particular gene being turned on or off, and this is the central principle underlying ‘ epigenetics ‘.

Professor Wolf Reik, Developmental Geneticist, Babraham Institute Cambridge (00:16:46 – 00:24:05), helped unravel the control process. He noticed that when a mouse embryo was placed in a culture dish some of genes would be switched off and wondered whether this could also be true for human embryos during In vitro fertilisation (IVF).

Beckwith-Wiedeman syndrome (BWS) , which is typically characterised by the excessive growth caused by reduced expression of a growth-suppressing gene and increased expression of a growth-promoting gene, is another epigenetic disease. These genes, which are found on chromosome 11, usually work in tandem to ensure correct and proportional growth. In the disease state, epigenetic changes cause this to become unbalanced, leading to excessive growth of the patient.

Professor Reik discovered that BWS occurs more frequently in IVF-conceived children than with natural births. This evidence suggests that placing a human embryo in a culture dish and thus changing its environment, could induce an epigenetic alteration, causing genes to be turned on and off. Professor Reik also showed that the epigenetic changes observed in mice could be inherited from one generation to another.

To establish whether an environmental stimuli could imprint inheritable change on DNA in humans, the documentary examines the work of Professor Rachel Yehuda , Mount Sinai School of Medicine, New York and Professor Jonathan Seckl , Edinburgh University (00:28:19 – 00:35:46). Both were interested in ‘transgenerational effects’, in which an event could happen in one generation and be transmitted non-genetically to the next generation. Professor Seckl’s work on pregnant rats had shown that exposure to stress hormones caused raised anxiety in their offspring, and in generations thereafter.

Their work examined the impact the September 11 th 2001 terrorist attacks in New York had on pregnant women. The human ‘stress hormone’ cortisol, is involved in the human response to stress. Low levels detected in the saliva are associated with difficulties coping with stressful events which may induce a Post Traumatic Stress Disorder (PTSD) . Pregnant women in the last third of their pregnancy at the time of the attacks on the Twin Towers and who suffered with PTSD not only had low levels of cortisol but also their children were born with lower than normal levels of cortisol in their saliva as well. This indicated that events during the last third of a woman’s pregnancy could change their children’s ability to cope with stress. To confirm that this was an epigenetic change, both scientists admit that they will need to examine the cortisol levels in the next generation, to see whether this change has in fact been inherited and is not just a consequence of high levels of cortisol in the mother’s womb.

In search of further evidence of the epigenetic phenomenon, Professor Pembrey teamed up with Swedish Professor Lars Olov Bygen, The University of Umea (00:23:46 – 00:28:19 and 00:35:16 – 00:43:18). Their work focussed on the remote Sweden town of Overkalix. The town has an extensive archive of population records, including all births and deaths of people who have lived there and, crucially, harvest information going back hundreds of years.

At first they found that life expectancy of grandchildren was directly affected by the diet of the grandparents. Fatal childhood diabetes was often associated with their father’s father living during a period of reduced food supply. In a further development, the records revealed that triggering of a trans-generational effect was dependent upon the time in the grandparents’ lives when food had been in short supply. For the grandfather it was just before puberty and for the grandmother it was the moment of conception, crucial moments in the development of sperm and egg. These observations suggest that environmental information, in this case supply of food, was being imprinted on the DNA of the sperm and egg, providing strong evidence that epigenetic inheritance occurs in humans.  

In further work, Mike Skinner (00:43: 18 – 00:45:51) exposed a pregnant rat to a high dose of a common pesticide. He found that the offspring passed on an array of diseases, such as; tumours, kidney disease and immune dysfunction from generation to generation. This evidence suggests that there are a whole series of environment events that might possibly trigger transgenerational affects and effect future generations.  

Ethics of epigenetics

The understanding of mechanisms by which environmental events can induce transgenerational effects is significant. The gender of the parent passing on a mutation, use of IVF, mental trauma, food supply and pesticide use have all been implicated as epigenetic triggers. It is highly likely that other lifestyle factors may leave people susceptible to epigenetic changes, with alcohol consumption, drug taking, smoking, exercise, stress at work and atmospheric toxins amongst the most probable candidates.  As such, this raises many ethical issues for discussion;

  • Epigenetics may demonstrate that people have a choice concerning the influences to which they ‘expose’ their genome. Should there be obligations concerning the lifestyle decisions of the current generation for the sake of future progeny?
  • Will individuals be legally culpable for future illness in their offspring if an established link is ignored?
  • Will epigenetics lead to multigenerational liability for mortgages, employment or insurance? Will environmental events in previous generations lead to higher premiums for the current generation?
  • Should women be prevented from working in the later stages of pregnancy to preserve future generations?
  • Would epigenetics lead to issues of discrimination?
  • Is the information contained within the human genome more or less sensitive now that scientists recognise epigenetic influences? How and who does this information effect?  Should it be protected by privacy legislation?
  • What effects could epigenetics have on compensation payments? Environmental justice – workers, home owners, car driver are exposed to different substances. What health effects will this have on future generations?
  • Epigenetics will highlight social inequalities – those that could be affected most are those who have the least hospitable home and work environments and least access to full and proper health care.

‘The ghost in your genes’ is an excellent resource to help explain the basis of genomic imprinting and epigenetics. Despite never directly discussing the ethical issues surrounding the topic, it does make many references regards to the possible implications epigenetics may have for future generations. It also acts as a very thought provoking documentary regards the rights and wrongs of the research and the consequences such findings may have.

This Horizon episode was first broadcast on 3 rd November 2005, BBC 2, 21:00pm, 50 minute (TRILT Identifier 005536A3) and was repeated 10 th November 2005, BBC1, 02:05am.

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This entry was posted on Monday, June 30th, 2008 at 4:27 pm and is filed under Animal experimentation , Gene testing , Genetic disease , Genetic screening , Horizon , IVF , Lifestyle & genetic disease , News story , Research ethics , Selective breeding , TV (documentary) . You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response , or trackback from your own site.

25 Responses to Epigenetics – The ghost in your genes

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For those interested specifically in the legal and ethical aspects of epigenetics, Rothstein et al have recently published an open access article. It actually has a similar name to this programme, The Ghost in Our Genes: Legal and Ethical Implications of Epigenetics

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Some basis has already been established regarding parental responsibility for developmental disabilities that are clearly tracked to parental decisions. For instance, a mother who conceives at the age of 49 has a 1:11 chance of having a child with Down Syndrome. The average for a mother aged 20-24 is more like 1:1500. The consequences for a mother/family are not legal, but there are significant natural consequences for parents who choose to uphold their responsibilities for their children. Around 70% of the causes for mental retardation can be identified to specific causes, and many of these causes are preventable by parental decisions. I would like to know more about upigenetics as it relates to Autism and other PDD’s, as the Pervasive Developmental Disabilities spectrum have been quickly on the increase (statistically speaking) over the past twenty years.

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I must say,I am just facinated with these kinds of studies.The deeper we dig,the more we discover,and of course,thats is why we keep digging. I am not sure that society is ready at this time,nor in the near future to blame parents for medical,ie gene problems with the offspring. However,I have little doubt that society is more than ready for more work in this wonderful area.

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I am a scientist since 1981. The more I learn, the more I find as to miniscule amount of the secret of life, and as a result, the stronger become the strenght of my belief in the existance of God/Khoda/Ahouramazda/Allah.

The more I learn, the more I find that how little our knowledge of the secret of life is. In 1987, I was involved in production of transgenic mice for HTLV cancer research. I am a microvascular surgeon who has done heart transplant in rats., and produced a an in vivo technique of production of Kupffer’s cells. As I said, the more I learn, the stronger has become my belief in God.

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Maybe you could show some respect for God by not experimenting on live animals.

[…] Geneticists are finding out that foods or chemicals your grandmother was exposed to can affect not only her children but her grandchildren as well. The question is at what point does the […]

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where can i find more info regarding the same?

am working on my PhD in Holistic Nutrition and wish to do a Thesis which will help!

I live in Epuyen, Chubut, Argentina…. thank you for your time and help… yours in peace, Susan

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Please source “Fatal childhood diabetes” claim. No other reporting, nor abstract to articles published, makes claim other than “grandchild mortality” due to diabetes. Research clearly links childhood g(1) experience to life outcomes of g(3). How do we get from this to childhood fatality in g(3)?

The post describes an episode from the BBC science documentary series Horizon

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Daughters of Vietnam Veterans!

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09-22-2009: I’ve seen this documentary several times, the third time this evening. I’ve also signed onto the internet and seen another version of it, the BBC version. It is an exciting area of science.

But I fear those so-called “bioethicists” who will decide, hmmm, let us place the burden on individuals rather than on the sort of cruelly insane economic and social order of private property-based individualistic capitalism which lets elites and ruling classes do anything they want to the rest of us, including create precisely the sorts of conditions making for the effects spoken of in this very interesting documentary. Putting the burden on individual humans, rather than putting it on society and on the necessity to change the insane economic and social order of individualistically based, “anything goes” capitalism into a humane, global, socialist kind of economic and social order, is precisely what NOT to do. All that does is perpetuate the sorts of horrifically stress-inducing results which the revolutionary implications of the findings in this documentary should point us all away from.

I realized how controversial these findings have been when I got unceremoniously evicted from the website of Sam Harris, Richard Dawkins, and Daniel Dennett, genetic reductionists all of them, named, ironically, “The Reason Project,” after mentioning the important implications of epigenetics on genetic reductionist dogmas, and additionally mentioning favorably the 40-years-long work of the American geneticist, Richard Lewontin at Harvard, who in the 1980s authored the book, “Not In Our Genes: Biology, Ideology, and Human Nature” with 2 colleagues, Steve Rose and Leon Kamin, and also after I favorably mentioned the magnificent work of the late evolutionary biologist and paleontologist and colleague of Dr. Lewontin, Dr. Stephen Jay Gould, entitled, “The Structure of Evolutionary Theory.” All these folks, including the folks in the documentary on epigenetics, whatever differences in scientific interpretations they might have had with each other, seem to take issue with the dogmas of genetic reductionism, and to point to a more all-sided perspective on how biological evolution occurs.

Finally, one last thing. I’m a hardline materialist, and a hardline atheist. I don’t think it’s necessary to be a god-believer or antimaterialist in philosophy to view all these findings as rigorously empirically based and, consequently, as rigorously in the “spirit,” if you will, of the hardcore materialism of real science.

What the late Steve Gould in “The Structure of Evolutionary Theory” pointed out, however, is that evolution seems to happen not just on the level of the organism, as Darwin suggested, but on multiple levels, such as levels like the genus, species or clade, population, organism, gene. Epigenetics introduces the tantalizing view that there is a whole matrix, the epigenome, in the “mix,” as it were, which is a key variable in how evolution happens.

And again, despite the fact the late Steve Gould referred to his view as not materialist and not determinist, I would have to respectfully disagree with him and defend him against himself on this issue. I think Steve Gould’s evolutionary theory is, essentially, a much reworked kind of higher-level sort of Darwinism on a much more multiply-leveled sort of basis. All materialism and all determinism suggest is, there’s causes and effects. But there is nothing in either materialism or in determinism to suggest — as the rather narrow-minded genetic reductionists would have it — that determinism is a unidirectional sort of thing, or, for that matter, that natural selection is a unidirectional sort of thing. Nor is there anything in natural selection that would necessarily imply keeping selectionism purely at the level of the organism or even lower, at the level of the gene, as the genetic reductionists would have people believe. Gould, I think, fruitfully suggested selectionism occurring on multiple levels, and also suggested a kind of multi-directional determinism without himself really necessarily giving himself the credit for having done so when he published his marvelous book in 2002 — the same year he, very sadly, died.

Anyway, I think epigenetics will add to the fruitful insights of people like Dr. Lewontin, his fine student, Dr. Spencer Wells, and the late Dr. Gould, and I think Dr. Pembrey, Dr. Bygren, and the other fine scientists involved in the work mentioned in this documentary must be seen not as some kinds of “kooks” or as sanctioning a crackpot anti-materialist, anti-empiricist attitude in science, but, instead, as confirming hardcore rigorously empiricist and materialist scientific scholarship in the best sense.

From what Dr. Gould in “The Structure of Evolutionary Theory” wrote in 2002, it’s clear that while Darwinian logic deserves, I think, its privileged place in building any viable structure of evolutionary theory (and it was on the basis of Darwinian logic that Dr. Gould built his revised sort of Darwinian evolutionary theory), it’s now also true that other great evolutionary biologists both before and after Darwin — Lamarck comes particularly to mind regarding, especially, epigenetics and its insights, with his long-opposed, but now, seemingly, confirmed, view that acquired traits can, under certain circumstances, be inherited; but additionally, evolutionists like Cuvier on the issue of catastrophism, DeVries, Weissman and Goldschmidt on the issue of natural selectionism occurring as species selectionism, not mainly organismal selectionism, which is the level to which Darwin tried to limit his way of seeing how selectionism occurred (although Darwin in assessing how diversity happened, accepted — reluctantly — species selectionism as the only way of properly explaining or grappling with the problem of how diversity happened, and he did this even though he didn’t like doing it, which only showed he was much more honest than scientists who will not let facts get in the way of pursuing their careers or excommunicating from amongst their lot scientific heretics) — ought to be re-analyzed and brought back into the “mix” to get a sense for how a more all encompassing material world-based evolutionary theory could be postulated. I think Stephen Jay Gould’s book is certainly important.

But so is this documentary.

Highly recommended. And again, I don’t think it requires god-belief. I come at this from the hardcore atheistic and materialistic standpoint. But I also don’t think materialism implies unidirectionalism or genetic reductionism or, indeed, any kind of reductionism necessarily. There have been, philosophically speaking, “holistic,” if you will, varieties of materialism which take as the irreducible bottom line the material world in which we live as all that we can truly know, and that, moreover, we “know” the world by interacting with same. The epigenetic insights certainly lend themselves to a kind of materialistic perspective more along the lines of this kind of materialistic perspective I’m expounding as opposed to the more narrow-minded, unidirectional, reductionist form of materialism.

Best for now, Allan Greene Email: [email protected]

Thanks Allan for your long and thoughtful comments. Epigenetics is certainly a field the importance of which is only just starting to emerge.

October 6, 2009, About 5:10 a.m. EST: The model of evolutionary theory of the late Dr. Stephen Jay Gould, punctuated equilibrium, has as a corollary very long, extended periods of stasis interrupted by moments of “punctuations.” The position of classical Darwinian gradualism seems to argue for built-up accumulations of incremental changes over long periods of time.

The Gould “revised” Darwinian model, and the “classical” Darwinian model both operate in real science-constrained frameworks. That is, both accept the constraints of the vastness of geological time, and there’s no pretense in either one of some kind of supernaturalistically based superstitious outside intervention from some alleged, but innately untestable, “divine” source.

Gould argues for the innately non-testable or untestable nature of religious claims, while Dawkins in “The God Delusion” argues that god belief is a testable claim that utterly fails all the tests; Dawkins is a biologist. Stenger argues the same point in “God: The Failed Hypothesis,” as Dawkins argued in “The God Delusion,” from the perspective of a physicist. Gould, more or less in line with Richard C. Lewontin, an eminent geneticist, long-time friend and sometime collaborator of Gould in some joint projects in evolutionary biology, seems to argue more or less along the line of Gould that religious claims are innately non-testable. But the point of nontestability is roughly the same as the point of results of tests which utterly fail: namely, in either case, the religious claims have no scientific certitude or value. And claims for the source for morality or ethics as lodging in religion must, correspondingly, be sought elsewhere.

The most interesting point in Gould’s Darwinian revisionist theory of punctuated equilibrium seems as I continue reading Gould’s huge “Structure of Evolutionary Theory” to be the fortuitous nature of structural changes in species. One of the arguments I used to get into with classical Darwinian gradualists was over the seemingly teleological (that is, crypto-theological) notion of “adaptationally conferred advantage,” almost as if nature were sort of a divinity with a divine plan “conferring advantage” here and “conferring advantage” there on given species. Gould seems to argue the much more radical view that structural changes may, or may not, confer advantages, and whether or not they do is pretty much a crap shoot. I’m inclined to agree with him on this.

But I’m also seeing in the latest developments in epigenetics of the role of the epigenome as a kind of “modifier” or “intermediary” between the outside environment on one side and, on the other side, the internal gene dynamics of cells in the body, something which, at least from what I can gather looking through Gould’s “Structure of Evolutionary Theory,” including at its index, he did not address. This book was published in 2002, however, and some of the interesting developments in epigenetics addressed in the recent “Ghost in Your Genes” NOVA documentary on epigenetics seem to have occurred primarily in the period since 2002. This was both the publication date of Gould’s book and also the date of his death, so obviously, he could not have pursued the matter of later epigenetic science developments.

His Harvard scientific colleague, Dr. Richard C. Lewontin, has, however, throughout his, Lewontin’s, distinguished career pursued the issue of a more holistic materialist kind of genetics which sees the gene as part of a greater totality of material realities. I have not to date read Dr. Lewontin’s book, “The Triple Helix,” but from some reviews of it I’ve read on line, I get the impression this book pursues earlier work of Dr. Lewontin — praised while Dr. Gould was still alive by Dr. Gould — in the vein of a more holistic kind of total science.

Another interesting aspect touched on by Dr. Gould in his book is mechanisms other than natural selection in species survival.

Additionally, the fortuitousness by which it might be the case that species have survived sheds some new light on issues of, for example, the rather arrogant and vaunted notions of homo sapiens that we are the apogee of all hominid development. Gould seems to place us in a humbler position, as one among what might once have been a much more colorfully diverse set of diverse humankinds, if you will, all of whom seem to have become extinct save ourselves. This raises, of course, the disturbing question, what happened to these other species of humans?

Then, there is the conventional assumption that the horse, for instance, is itself sort of the result of this ever-onward-and-upward development toward the apogee of complexity. Again, Gould postulates that, in fact, the contemporary horse is not anything save probably the last gasp of a once much more diversified number of varieties of similar creatures.

Furthermore, Gould looks at the humble bacteria, and sees in it evidence of much greater long-term success, not to mention, with the criterion of long-term stasis (“stick-to-a-tivity” of species over long periods of time in a relatively non-changed way), its having apparently “done something right.”

If one takes the criterion of stasis over long periods of time as a criterion of long-term species success, then it immediately becomes evident that many species of all kinds seem just on the face of it to fit in this sort of category. Only in the 1920s, the coelenterata, a fish long thought to have died out literally about 300 million years ago, was apparently caught in some nets of some fishermen on some islands proximate to the coast of Indonesia. This fish is now realized to still be around, although it resides in very deep parts of the waters where it lives, and if brought to the surface, dies; but it is truly a “living fossil.”

Another species that has survived roughly in the same sort of way for literally hundreds of millions of years is the hated cockroach. While it was much bigger in the Permian period, around the time life had just recently come onto the land, and later in the period of the dinosaurs, the Mesozoic, basically, it’s been pretty much the same for hundreds of millions of years of geological time.

The fern plant, too, is another species that seems to be an example of successful species that’s been roughly in the same form for hundreds of millions of years.

And so are the crocodiles and alligators, which scientists seem to date back at least to the Mesozoic, the era of the dinosaurs.

So Gould’s model of evolution, punctuated equilibrium, postulating stasis as a key way of explaining the viability of many life forms, certainly seems to be more successful as a way of explaining their viability than the assumption of gradualistically incrementally accumulated changes over long periods of time.

Gould, however, pays some attention in his book to the attempt of more classical Darwinian gradualists to explain change as “glacial change” (That is, as so slow as to be virtually imperceptible) in some species, which, as a model, might “work” for explaining some of the life forms mentioned here. There seems here to be room for healthy dialogue and debate among scientists of both “camps” on this issue.

Also, there does not seem a hard “either-or” position taken by the most honest of scientists in either “camp.” I do, however, think Gould’s model of punctuated equilibrium is an enormous help to looking at the classical model of slowly accumulated incremental changes in a new way.

Gould, too, it must here be added, began as a paleontologist — and that is a scientist who studies ancient life. He, and fellow paleontologists like Niles Eldredge, Elisabeth Vrba, and others, became somewhat dissatisfied by the conventional explanations of what seemed to be sharp differentiations between species on one “side” of some important divide in ancient geological time, and a later period in geological time, and by the failure of intermediate fossils to appear for many types of species that could confirm by their presence the classical Darwinian gradualistic model of slowly accumulated changes over vast stretches of geological time.

Gould also took great pains to state he was not arguing that individual species were the primary vehicles of what he called “true saltations,” i.e., abrupt changes, as had been wrongly attributed by adversaries of punctuated equilibrium to him and his colleagues in evolutionary paleontology holding to his view. Rather, he placed his theory firmly in the context of the vastness of geological time.

I noted in reading Richard Dawkins’ “The God Delusion” that Dawkins referred to the Cambrian Explosion as the “so-called Cambrian Explosion,” and the only reason Dawkins would have put that phrase, “so-called,” in there is, Dawkins to this day cannot accept the thesis of Gould, Eldredge, and others holding to the model of punctuated equilibrium that this enormous proliferation of life forms which emerged at the time of the Cambrian era did, in fact, emerge over what, in geological time, seems a quite relatively brief moment or instant of time (over maybe 10 thousand years or a bit more, which in geological time frames is almost an instant in time). Geologists deal with the ages of rocks and the actual crust of the earth over time, and those ages are dated to literally billions upon billions of years. I recently just completed watching Ken Burns’ series on the national parks in the United States, and one of the people interviewed made the point that when he as a child visited the Grand Canyon of the Colorado River with his family, and the park ranger explained that some of the rocks in that park were in the range of billions of years old, that changed that child’s life, and made him determined to do something having to do with working with the national parks. He himself ended up working for the National Park Service.

But the point here is, geologists have quite accurate ways of measuring the longevity and ages of rocks, and of the fossil remains in said rocks, and paleontologists use some of the same methods of dating which geologists use. When I used to argue against creationists and “intelligent design” anti-evolutionists, and they would say stuff like, “Carbon dating is not reliable,” I would immediately say, “But in rocks over 50 thousand years old, they don’t use carbon dating; they use uranium dating,” and I remembered that from the reading I did as a child about dinosaurs and how fossils are dated. And that remains the case today. Geologists and paleontologists, if they suspect rock formations are older than 50 thousand years, will use uranium dating to date them, not carbon dating. Just finding that a rock formation is older than 10 thousand years immediately knocks — quite literally — into a cocked hat all the crap against evolution on the part of “intelligent design” types, and, by the way, that Dover court case in Pennsylvania some years ago made it quite clear that “intelligent design” is simply the contemporary example of what “creationism” and “creation science” used to be, and that the “intelligent design” types were entirely and thoroughly unethical to an extreme degree in their totalitarian aim to get their politics of hatred for the separation of religion and government — their politics of support for the medievalist totalitarian principle of unification of church and state — shoved down the throats of the people of Dover, Pennsylvania, like their national counterparts of the religious right are throughout America today, not only with regard to the theory of evolution, but with regard to the rights of women to abortions, the rights of gay and transgender people to equality, and the rights of seriously terminally ill and in pain people to make end of life decisions enabling them to pull the plug on themselves if they so choose to end their own suffering. The real issue cutting through all these issues is, separation of church and state, and that’s what the religious right-wing totalitarians want to get rid of. That is what is in back of their agenda in all these other issues that seem to the average observer disconnected. Leastwise, that’s my view on the matter.

By the way, one last comment here.

The late Stephen Jay Gould’s model of punctuated equilibrium was often entirely misquoted or quoted entirely out of context by the protagonists of “creationism” or “intelligent design” to try to convey to the population that the theory of evolution was in trouble in some way, shape, or form. As a result of their dishonest in quoting Gould out of context, he became so angered by their lack of ethics that he not only utterly refused to debate them or allow himself on the same podium with them, but he advised all scientific colleagues of his, including Richard Dawkins, as Dawkins himself explained in Dawkins 2002 obituary on Gould in the secular humanist magazine, “Free Inquiry,” against debating them. Gould argued that any legitimate scientist debating these “intelligent design” or “creationist” type people simply gave them a podium and a claim for their own credibility and legitimacy which, to Gould, they entirely lacked.

Furthermore, Gould became one of the key expert witnesses in defense of the complete truth of evolutionary theory in many courtrooms, seeking to keep the teaching of the essentially religious claims of creationism and “intelligent design” out of public and tax-supported classrooms as a crossing of the boundary of church-state separation, a principle Gould strongly supported while alive.

–Allan Greene Email: [email protected]

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I just wanted to say THANKS, this has been a long time discussion between my husband and me for a long time, my daughter and my niece both have hand mannerisms and gestures that my mother had, and they never met her, so we have always thought there must be more to our genes then we know. I think this is just WOW, and I wonder, if the children with Autism could benefit from purging the high levels of mercury from their systems. It worked wonders on the people in and around Chernobyl

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I watched this awhile ago and would like to obtain a dvd copy of the documentary. Does anyone know where I could obtain/purchase a copy?

I think that will depend partly whether you are UK based or elsewhere, and whether you are formally involved in education or not.

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Fascinating but the end result appears to be contra to the purpose of natural selection, ie change in response to environmental stimuli serves to weaken the organism and subsequent generations. What can be the purpose of such a process? The impact of this seems the selection of negative traits which is an average plan at best, we should be extinct by now.

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I think you’ve hit the nail on the head there Doug. All the examples shown seemed highly degenerative and touched on subjects many do not like to confront, as Marcus Pembrey touched on at the end of that documentary. This is the responsible way in which we make life choices and yes even moral choices, but that subject is taboo in out modern world of if it feels good “Do It”.

It also raises questions about the morality of some scientific endeavors, like the invention of various chemicals and pesticide uses. It brings up long term accountability issues with regards any future court cases dealing with irresponsible companies.

Great documentary to say the least.

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Professors Pembury and Bygen have done humanity an incredible favour with this work. It is only now that the technical basis for microbiological substantiation of their findings has been available. Two hundred years ago that technology wasn’t available. A decent microscope was finally made in the early 1700s but that did not stop Dr Samuel Hahnemann, some 50 years later, asking very similar questions to those raised by Prof. Pembury. After much thought and investigation of acute and chronic illness he classified the latter in his Theory of Miasms. (His ‘Organon of the Medical Art’ edited by Wenda Brewster O’Reilly Birdcage 1996 is the most readable edition) He first noted all chronic diseases that seemed to have a common source in what are now termed STDs and suggested their origin lay in the circumstance under which a forebear had acquired either syphilis of gonorrhea whose effects had not been completely removed. Somehow, a permanent ‘stain or miasm’ had been lodged in the organism which was then transmitted to later generations. Such a finding was and still is very controversial in orthodox medical circles but this has not prevented it from being one of the most useful diagnostic concepts in the Homoeopathic arsenal. Now, as the newly emerging field of epigenetics is similarly still under scrutiny the big question is what spin off will there be in the treatment of conditions arising from these findings. One thing is sure, as noted by an earlier correspondent, our public leaders be they political or corporate will somehow have to brought to account for the consequences of their actions or inaction with regard to the welfare of those they have opted to lead. And how come that the Jews knew all about the ‘sins’ of the fathers being ‘visited upon the children over successive generations thousands of years ago? It is good to know that we are at last catching up.

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Wonderful site. Plenty of useful information here. I am sending it to a few friends ans additionally sharing in delicious. And certainly, thanks for your sweat!

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[…] It has been found that the impact of trauma extends to the very micro level of our beings..even placing little memory keys upon our DNA, through changing our epigenome, these trauma memory keys lock or unlock little chemical markers on certain genes! Ref […]

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Ghost in Your Genes

  • Episode aired Oct 17, 2007

Nova (1974)

Following the mapping of the human genome scientists discovered there is a huge new chapter in the genetics story. Dubbed epigenetics, it involves the chemical markers on DNA that effectivel... Read all Following the mapping of the human genome scientists discovered there is a huge new chapter in the genetics story. Dubbed epigenetics, it involves the chemical markers on DNA that effectively turn genes on or off dramatically influencing growth and development. The markers vary w... Read all Following the mapping of the human genome scientists discovered there is a huge new chapter in the genetics story. Dubbed epigenetics, it involves the chemical markers on DNA that effectively turn genes on or off dramatically influencing growth and development. The markers vary widely from person to person and tissue to tissue and are influenced not just by the enviro... Read all

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Nova (1974)

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  • Connections Featured in 2015 Nephilim, Monsters & Giants Conference: Archon Invasion: Nephilim Genetics and the Rise of the X-men (2015)

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  • October 17, 2007 (United States)
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    ghost in your genes nova transcript

  4. Ghost In Your Genes Worksheet Answer Key

    ghost in your genes nova transcript

  5. "Nova" Ghost in Your Genes (TV 2007)

    ghost in your genes nova transcript

  6. NOVA Transcript unofficial

    ghost in your genes nova transcript


  1. What Enzyme Is Involved in Transcription?

    RNA poylmerase is the enzyme involved in transcription. It plays a pivotal role in the synthesis of RNA from a DNA template, making it essential to the gene expression that occurs in all known life.

  2. NR5A1 gene: MedlinePlus Genetics

    The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. Learn about this gene and related health conditions. The NR5A1 gene provides instructions for producing a transcription factor call...

  3. RUNX1 gene: MedlinePlus Genetics

    The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Learn about this gene and related health conditions. The RUNX1 gene provides instructions for making a protein called runt-related...

  4. NOVA

    NARRATOR: Imagine sharing life with a person who seems to be you. Created from the same fertilized egg, you share exactly the same genes. So

  5. NOVA

    Find a description of the NOVA program Ghost in Your Genes, originally broadcast on PBS on June 19, 2007.

  6. NOVA

    Scientists have long puzzled over the different fates of identical twins: both have the same genes, yet only one may develop a serious

  7. Ghost in Your Genes

    This is "Ghost in Your Genes" by Geneimprint on Vimeo, the home for high quality videos and the people who love them.

  8. English

    Transcribing the code of the genes - the genome project - is not an end, but simply a beginning. 16:20 - 16:31. If inheritance was not just about DNA, if these

  9. Discussion Questions for Ghost in Your Genes NOVA Video

    Discussion Questions forNOVA: Ghost in Your Genes Transcript for video:1.Define the following terms: genome, epigenome, and epigenetics. 2.

  10. Epigenetics

    Epigenetics - Turning genes on and off The BBC Horizon documentary The ghost in your genes, successfully explains a particularly complex

  11. The Ghost in our Genes

    This documentary film explains genetic science and it's impact on our future life. A gene is the basic unit of heredity in a living organism. The field of

  12. NOVA's Ghost in Your Genes Flashcards

    NOVA's Ghost in Your Genes. 4.6 (19 reviews). Flashcards · Learn · Test

  13. 10: Ghost In Your Genes (Documentary)

    Following the mapping of the human genome, scientists discovered there is a huge new chapter in the genetics story. Dubbed epigenetics, it

  14. "Nova" Ghost in Your Genes (TV Episode 2007)

    Ghost in Your Genes: Directed by Sarah Holt, Nigel Paterson. With Neil Ross. Following the mapping of the human genome scientists discovered there is a huge