Professor Svante Pääbo is Director of the Department of Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. He will be giving the ESHG Award Lecture on Tuesday, June 9, 2015 at 14.15. He talked to Mary Rice about his life and work.

Moving from the study of the highly sophisticated society of ancient Egypt to the study of the primitive Neanderthals may seem like a step backwards, but for Svante Pääbo it was anything but.  “After much pestering from me, my mother took me to Egypt in my early teens and that made me convinced I would become an Egyptologist. But when I started studying the subject at University I found it much less exciting then I had imagined. So I ended up studying medicine and doing a PhD in molecular biology instead.”

This interest led him to start attempts to extract DNA from ancient Egyptian mummies, and, eventually, to the study of DNA from Neanderthals. In 2010, together with colleagues, he published the first draft sequence of the Neanderthal genome, and last year he followed through with a high-quality version of this genome. “I am very happy that we have been able reconstruct the genome of our closest evolutionary relative. It has allowed us to figure out how we are related to Neanderthals and how our ancestors mixed with them. It will also allow scientists to begin to understand what sets us apart from them from a biological perspective,” he says.

Both Pääbo’s parents were scientists, his mother a chemist, and his father a biochemist who won a Nobel Prize. “They encouraged me to follow my passions, even when those were not science. I think I am fortunate in having had parents who did not try to impose on me what to do.”

After postdocs in Zurich and Berkeley, where he applied the then novel technique of PCR to the ancient remains of extinct animals such as marsupial wolves and quaggas, he landed his first academic post at the University of Munich in 1990. There, he began to systematically refine techniques for the retrieval of DNA from ancient animals and plants. After a few years, he resumed work on ancient human DNA.

“What I was most curious about was how we are related to Neanderthals, how we interacted with them, and how we differ from them genetically,” says Pääbo.  A bone sample from a 42,000 year-old fossil brought a first answer.  The mitochondrial DNA sequences he determined from that sample were very different from those of humans today. “These first results suggested that Neanderthals contributed very little, if any, DNA to modern humans,” he says.

However, the Neanderthal genome which he published in 2010 was to refine this picture. It showed that about 2% of the genomes of present-day people of European and Asian descent are of Neanderthal origin, but that people from Africa have no such genetic contribution. This suggests that when the first modern humans emerged from Africa they mated with Neanderthals and carried their DNA with them as they ventured into Asia and Europe. “We showed that Neanderthals are not totally extinct. They live on a little bit in many people today,” says Pääbo, who has described his work in the recent best-selling book entitled “Neanderthal Man – In Search of Lost Genomes”.

He will be telling the conference not only about this, but also about the genome of a hitherto unknown species more closely related to Neanderthals than to modern humans. “The Denisovans were the first form of extinct humans to be described from DNA sequence data alone,” says Pääbo.  “I will be talking to the conference about what these ancient genomes can tell us about our early history and about how we differ from our closest extinct relatives.”

Professor Thomas Christian Südhof is Avram Goldstein Professor in the School of Medicine at Stanford University, Stanford, California, USA. He will be giving the ESHG Mendel Lecture on Tuesday, June 9, 2015 at 13.30 hrs. He talked to Mary Rice about his life and work.

Thomas Südhof’s first ambition was to become a musician.  “While in high school in Germany I was primarily interested in non-scientific activities – music, philosophy, and history – but in the end decided to follow in my father’s footsteps and go to medical school.”  While there, he realised that although the profession understood what happened to a patient with a disease, doctors had little understanding of the disease itself and what underpinned it. “Trying to comprehend this aspect led to my interest in science and so I started working in a lab while still at medical school.”

After obtaining his MD, Südhof moved to the US and began a postdoctoral training in medical genetics. Even though his career was oriented towards science thereafter, he still hankered after a clinical career for a while. “I only gave up the up the idea of practising medicine when I was 30. Although science was fascinating and rewarding, I enjoyed being a doctor and gave it up with regret.”

Why did he not do both? “You can’t – or I don’t think so”, he says. “I believe that people who say they can are not being entirely accurate; if you want to be a good doctor you have to know so many things and regularly practise so many different skills that it takes up all your time. And if you want to be a good scientist you can’t just do it in the odd hour. There are people who do both, but it takes a huge amount of time and effort and personally I believe that they’re really only doing one thing and the other is just to keep a finger in the water. They can’t be doing both at a high degree of competence. Being a medical doctor carries enormous responsibility and if you really want to do it well you have to devote all your time to it.”

Hankerings after a clinical career apart, Südhof is happy with his choice of science and with what he has achieved.  “I suppose I’m most proud of the fact that my work has, I believe, opened up several new areas of science.  And when someone adopts the discoveries I have made, takes them up and examines them, and finds the same thing, that makes me prouder still.”

However, he is not without regret at the current situation in which science and scientists find themselves.  “I’m generally rather unhappy about the loss of integrity of science that I see happening.  I think that science has basically lost some of its soul by acceding to the demands of society. Science should be about truth, and the most important criterion in science should be determining the truth, but in recent years there has been pressure on scientists from journals and politicians, and disease foundations lobby for funding only certain types of science. That has meant that a large number of major papers published now are not necessarily flawed, but twisted in ways so that the conclusions do not actually match the data. We as scientists face tremendous pressure to obtain funding and jobs and contracts, and the commercial journals want to publish papers not based on truth but solely based on what will attract attention. As a result, I think science has lost some of its soul because the primary criterion should always be the pursuit of truth, not whether it’s useful, and not whether its novel.

“This has happened during my career which lasts for almost forty years, and it’s been particularly obvious in the last twenty, when the quality of papers in the literature has diminished considerably. In the past, a significant number of papers that were published in the premier journals represented true advances, but I don’t think that’s the case anymore.

“It seems to me that we as scientists should be drawing attention to the concept of truth in science. I think we need to rediscover our integrity - many of us seem to have lost it. I myself have often given in – instead of doing what I thought would be more truthful I’ve done stuff that would be better funded. So let’s start with ourselves.”

Südhof doesn’t intend to retire for a while yet.  “I don’t have any choice – I’m too poor to do so! But it’s fine, because I like my work.”  When he’s not working, he spends most of his time looking after his three young children. “That’s my primary occupation outside science – my wife is also a full time professor.”

He will be telling the conference about his personal perspective on how to use the vast amounts of new genetic information in better understanding neuropsychiatric disorders. “I’m very interested in what this information may mean, particularly since some of the genes involved were discovered in another context and therefore merit particular attention. My talk will focus on how we can best use all this new information in order to comprehend disorders.”