EPIGENomics and Health Care Policy: Challenges and Opportunities

ISG Associate Professor, Hannah Landecker, will be speaking at – EPIGENomics and Health Policy: Challenges and Opportunities

December 1-3, 2014
IEO, via Adamello 16, Milan, Italy

in partnership with


The rise of epigenomics has been exponential over the last decade, in terms of scientific breakthroughs and technological advances as well as in the public salience of its discourse. Its impact is particularly promising in biomedicine, where epigenomic signatures are expected to bridge the gap between human genetic variation and clinical phenotypes, with possibly paradigm-shifting implications for disease classification, prognostic stratifications and therapeutic regimens. Developments are no less momentous when it comes to preventive, occupational and environmental studies, where the possibility to digitize exposures and standardize them in terms of epigenomic readouts is expected to have far reaching impacts. Unsurprisingly, the investigation of the ethical, legal and social issues (ELSI) of epigenomics has also started to advance, beginning to highlight commonalities and differences vis à vis the previous two decades of genome-centered focus.

The time is thus ripe to assess the impact of these advances in the context of health care delivery and policy, for whose analysis this meeting will provide a timely first opportunity at the international level. The aim is to bring together leading epigenomics scientists with policy makers, clinician representatives, patient organizations and ELSI scholars in order to define the critical challenges and opportunities ahead of us in the translation of epigenomic science into healthcare practice, both at the national and transnational levels.


Giuseppe Testa - European Institute of Oncology, Milan
Luca Chiapperino - European Institute of Oncology, Milan
Maria Damjanovicova - European Institute of Oncology, Milan


Genevieve Almouzni - Institut Curie, Paris
Bruno Amati - Italian Institute of Technology, Milan
Ruth Chadwick - Cardiff University, Cardiff
Davide Gabellini - San Raffaele Scientific Institute, Milan
Alex Gutteridge - Neusentis Cambridge
Nils Hoppe - University of Hannover, Hannover
Yann Joly - McGill University, Montreal
Hannah Landecker - University of California, Los Angeles
Giuseppe Macino - Sapienza University of Rome, Rome
Maurizio Meloni - Princeton and University of Sheffield
Karin Michels - Harvard University, Boston
Saverio Minucci - IEO, Milan
Gioacchino Natoli - IEO, Milan
Udo Oppermann - University of Oxford, Oxford
Massimiliano Pagani - Foundation INGM, Milan
Barbara Prainsack - King’s College, London
Silvia Stringhini - Lausanne University Hospital, Lausanne
Henk Stunnenberg - University of Nijmegen, Nijmegen
Jörn Walter - Saarland University, Saarbrücken

The number of participants is limited to 185

‘Killer sperm’ Prevents Mating Between Worm Species

The classic definition of a biological species is the ability to breed within its group, and the inability to breed outside it. For instance, breeding a horse and a donkey may result in a live mule offspring, but mules are nearly always sterile due to genomic incompatibility between the two species. The vast majority of the time, mating across species is merely unsuccessful in producing offspring. However, when researchers at the University of Maryland and the University of Toronto mated Caenorhabditis worms of different species, they found that the lifespan of the female worms and their number of progeny were drastically reduced compared with females that mated with the same species. In addition, females that survived cross-species mating were often sterile, even if they subsequently mated with their own species.

When the researchers observed the sterile and dying female worms under a microscope using a fluorescent stain to visualize sperm in live worms, they discovered that the foreign sperm had broken through the sphincter of the worm’s uterus and invaded the ovaries. There, the sperm prematurely fertilized the eggs, which were then unable to develop into viable offspring. The sperm eventually destroyed the ovaries, resulting in sterility. The sperm then traveled farther throughout the worm’s body, resulting in tissue damage and death.

“Our findings were quite surprising because females typically just select sperm from males of their own species during fertilization, an action that does not lead to long-term consequences because there is no gene flow between the species,” said Asher Cutter, associate professor of ecology and evolutionary biology at the University of Toronto.

The researchers believe the “killer sperm” may be the result of a divergence in the evolution of worm species’ sexual organs—in particular, the ability of sperm to physically compete with one another. When a female worm mates with multiple males, the sperm jostle each other, competing for access to the eggs. Female worms’ bodies must be able to withstand this competition to survive and produce offspring. The researchers hypothesize that the aggressiveness of the sperm and the ability of the uterus to tolerate the sperm are the same within a single species, but not across multiple species. Thus, a female from a species with less active sperm may not be able to tolerate the aggressive sperm from a different species.

Read the full article here.

2014 | Aaron Panofsky – Misbehaving Science: Controversy and the Development of Behavior Genetics

ISG Associate Professor, Aaron Panofsky, is pleased to announce that his book Misbehaving Science: Controversy and the Development of Behavior Genetics is now out!

Behavior genetics has always been a breeding ground for controversies. From the “criminal chromosome” to the “gay gene,” claims about the influence of genes like these have led to often vitriolic national debates about race, class, and inequality. Many behavior geneticists have encountered accusations of racism and have had their scientific authority and credibility questioned, ruining reputations, and threatening their access to coveted resources.

In Misbehaving Science, Aaron Panofsky traces the field of behavior genetics back to its origins in the 1950s, telling the story through close looks at five major controversies. In the process, Panofsky argues that persistent, ungovernable controversy in behavior genetics is due to the broken hierarchies within the field. All authority and scientific norms are questioned, while the absence of unanimously accepted methods and theories leaves a foundationless field, where disorder is ongoing. Critics charge behavior geneticists with political motivations; champions say they merely follow the data where they lead. But Panofsky shows how pragmatic coping with repeated controversies drives their scientific actions. Ironically, behavior geneticists’ struggles for scientific authority and efforts to deal with the threats to their legitimacy and autonomy have made controversy inevitable—and in some ways essential—to the study of behavior genetics.

Marmoset Sequence Sheds Light on Primate Biology, Evolution

A team of scientists from around the world led by Baylor College of Medicine and Washington University in St. Louis has completed the genome sequence of the common marmoset – the first sequence of a New World Monkey – providing new information about the marmoset’s unique rapid reproductive system, physiology and growth, shedding new light on primate biology and evolution. The team published the work today in the journal Nature Genetics.

“We study primate genomes to get a better understanding of the biology of the species that are most closely related to humans,” said Dr. Jeffrey Rogers, associate professor in the Human Genome Sequencing Center at Baylor and a lead author on the report. “The previous sequences of the great apes and macaques, which are very closely related to humans on the primate evolutionary tree, have provided remarkable new information about the evolutionary origins of the human genome and the processes involved.”

With the sequence of the marmoset, the team revealed for the first time the genome of a non-human primate in the New World monkeys, which represents a separate branch in the primate evolutionary tree that is more distant from humans than those whose genomes have been studied in detail before. The sequence allows researchers to broaden their ability to study the human genome and its history as revealed by comparison with other primates. ”Each new non-human primate genome adds to a deeper understanding of human biology,” said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor and a principal investigator of the study.

Read the full article here.

Friends Share Genetic Similarities

If you consider your friends family, you may be on to something. A study from the University of California, San Diego, and Yale University finds that friends who are not biologically related still resemble each other genetically.

Published in the Proceedings of the National Academy of Sciences, the study is coauthored by James Fowler, professor of medical genetics and political science at UC San Diego, and Nicholas Christakis, professor of sociology, evolutionary biology, and medicine at Yale. “Looking across the whole genome,”

The study is a genome-wide analysis of nearly 1.5 million markers of gene variation, and relies on data from the Framingham Heart Study. The Framingham dataset is the largest the authors are aware of that contains both that level of genetic detail and information on who is friends with whom. The researchers focused on 1,932 unique subjects and compared pairs of unrelated friends against pairs of unrelated strangers. The same people, who were neither kin nor spouses, were used in both types of samples. The only thing that differed between them was their social relationship.Fowler said, “we find that, on average, we are genetically similar to our friends. We have more DNA in common with the people we pick as friends than we do with strangers in the same population.”

The findings are not, the researchers say, an artifact of people’s tendency to befriend those of similar ethnic backgrounds. The Framingham data is dominated by people of European extraction. While this is a drawback for some research, it may be advantageous to the study here: because all the subjects, friends and not, were drawn from the same population. The researchers also controlled for ancestry, they say, by using the most conservative techniques currently available. The observed genetic go beyond what you would expect to find among people of shared heritage– these results are “net of ancestry,” Fowler said.

Read the full article here.

Running For Life: How Speed Restricts Evolutionary Change of the Vertebral Column

One of the riddles of mammal evolution explained: the strong conservation of the number of trunk vertebrae. Researchers of the Naturalis Biodiversity Center and the University of Utah show that this conservation is probably due to the essential role of speed and agility in survival of fast running mammals. They measured variation in vertebrae of 774 individual mammal skeletons of both fast and slow running species. The researchers found that a combination of developmental and biomechanical problems prevents evolutionary change in the number of trunk vertebrae in fast running and agile mammals. In contrast, these problems barely affect slow and sturdy mammals. The study will appear on 14 July 2014 in PNAS.

Read the full article here.

U.S. Researchers Call for Greater Oversight of Powerful Genetic Technology

In 2011, experiments that allowed the potentially deadly H5N1 flu virus to spread between mammals ignited intense discussions about whether such research should be done at all, much less published. But most of the debate occurred after the research had been carried out. Kenneth Oye, a social scientist at the Massachusetts Institute of Technology in Cambridge, thinks that the discussion needs to take place before the lab work starts. In an article appearing online today in Science, he and nine colleagues have outlined what they think needs to be done about an emerging technology called gene drive.

Gene drive involves stimulating biased inheritance of particular genes to alter entire populations of organisms. It was first proposed more than a decade ago, and researchers have been developing gene drive approaches to alter mosquitoes to slow the spread of malaria and dengue fever. Although progress has been quite slow, recent advances in gene editing could lead to a rapid application of gene drive approaches to other species, Oye and his colleagues predict. To avoid a repeat of the H5N1 brouhaha, Oye says, “what we would really like to see is good, well-informed discussion of the benefit and potential risks specific to the particular application, species, and context. … We need to do it before people get that hot about it.”

Oye is not alone in calling for government agencies, scientists, and the general public to figure out how to regulate the release of mosquitoes and other organisms with gene drive alterations. In June, the WHO Special Programme for Research and Training in Tropical Diseases issued guidelines for evaluating genetically modified mosquitoes. A year earlier, the European Food Safety Authority came out with a six-step protocol for environmental assessments of all genetically modified organisms. “People are beginning to think through these issues,” says Austin Burt, an evolutionary geneticist at Imperial College London. Introducing these genetically modified mosquitoes into the wild should, over time, cause the modified gene to spread throughout the population and interrupt malaria transmission. He and researchers at about 10 institutions are working on the idea, but he says they are at least 5 years from testing it in the field.

Read the full article here.

Chimp Intelligence “Runs In Families,” Environment Less Important, Study Finds

A chimpanzee’s intelligence is largely determined by its genes, while environmental factors may be less important than scientists previously thought, according to a Georgia State University research study. The study found that some, but not all, cognitive, or mental, abilities, in chimpanzees depend significantly on the genes they inherit. The findings are reported in the latest issue of Current Biology.

“Intelligence runs in families,” said Dr. William Hopkins, professor in the Center for Behavioral Neuroscience at Georgia State and research scientist in the Yerkes National Primate Research Center at Emory University. “The suggestion here is that genes play a really important role in their performance on tasks while non-genetic factors didn’t seem to explain a lot. So that’s new.”

The role of genes in human intelligence or IQ has been studied for years, but Hopkins’ study is among the first to address heritability in cognitive abilities in nonhuman primates. Studies have shown that human intelligence is inherited through genes, but social and environmental factors, such as formal education and socioeconomic status, also play a role and are somewhat confounded with genetic factors.  Chimpanzees, which are highly intelligent and genetically similar to humans, do not have these additional socio-cultural influences. “We wanted to see if we gave a sample of chimpanzees a large array of tasks,” he said, “would we find essentially some organization in their abilities that made sense. The bottom line is that chimp intelligence looks somewhat like the structure of human intelligence.”

In the future, Hopkins wants to continue the study with an expanded sample size. He would also like to pursue studies to determine which genes are involved in intelligence and various cognitive abilities as well as how genes are linked to variation in the organization of the brain.

Hopkins also would like to determine which genes changed in human evolution that allowed humans to have such advanced intelligence.

Read the full article here.