04 February 2013
ByAppeared in BioNews 691
Organised by the University of Cambridge
Churchill College, University of Cambridge, Storey's Way, Cambridge, Cambridgeshire CB23 8AQ, UK
Saturday 15 December 2012
In 2010, Professor Sir Robert Edwards was awarded a long overdue Nobel Prize in Physiology or Medicine, for his the part he played in pioneering both the theory and practice of IVF. Since Professor Edwards and his colleagues Dr Patrick Steptoe and Jean Purdy brought about the conception of the world's first IVF baby (Louise Brown) in 1978, more than five million IVF babies have been born worldwide.
Having delivered the Nobel Lecture in Stockholm on the occasion of Professor Edwards' award - Professor Edwards was too unwell to give the presentation himself - Martin Johnson, professor of reproductive sciences at the University of Cambridge went on to head up a committee that organised the celebratory conference 'Futures in Reproduction' in Cambridge at the end of 2012.
The conference focused on the kind of cutting-edge research that takes Professor Edwards' legacy forward. There were excellent presentations on areas which have been the focus of much of Progress Educational Trust's recent public engagement work with epigenetics and mitochondrial disease figuring prominently.
Other areas addressed at the conference were less familiar to me. Presentations on the relationship between the embryo and the endometrium that lines the uterus left me doubtful as to whether even a seemingly straightforward question like 'why do women menstruate?' has a straightforward answer.
Meanwhile, a presentation by Professor Peter Parham of Stanford University on the relationship between evolution, immunology and pregnancy gave me a new appreciation for the unique evolutionary position of - wait for it - the hagfish and the lamprey. These 'living fossils', the only jawless vertebrates still in existence, can help us deduce how the complex jigsaw of the human reproductive system was assembled.
Perhaps the most inspiring presentation of the day was by Professor Dennis Lo of the Chinese University of Hong Kong. It was Professor Lo who made the discovery, 15 years ago, that the blood of pregnant women contains cell-free DNA (cffDNA) from the fetus they carry. Among other things this discovery has made it possible to detect Down's syndrome in a fetus 11 weeks into a woman's pregnancy, simply by non-invasively testing a sample of her blood (see BioNews 591).
Professor Lo's discovery also has the potential to form the basis for diagnostic and screening tools for other conditions. Cell-free fetal DNA testing is already being used to detect the sex of a fetus (sex selection is permitted in the UK for medical reasons) and to anticipate and avoid rhesus disease (caused by incompatibility between the blood types of a pregnant woman and the fetus she carries). As the cffDNA testing is further refined, it has the potential to detect many other conditions in the fetus.
Excitingly, there is now the prospect of non-invasively sequencing the entire genome of a fetus, by combining cffDNA with next-generation sequencing technology (reported in BioNews 664). Professor Lo explained that given the miniscule quantities of cffDNA available, this operation appeared to be prohibitively difficult. Amusingly, however, he was inspired to think up a solution while watching the film 'Harry Potter and The Half-Blood Prince' in IMAX 3D. I won't relay the details here (I doubt I could) but Professor Lo was struck by the fact that the 'H' in the 3D-rendered Harry Potter logo resembled homologous chromosomes.
He then went on to make this layman's head spin, by explaining how cffDNA testing could be refined in relation to multiple pregnancies in order to distinguish the pregnant woman's DNA from two or more other sets of DNA - sets which might be identical, if monozygotic twins are involved - and also in relation to mitochondrial DNA. When Professor Lo spoke there was a palpable sense that the innovative spirit exemplified by Professor Edwards was very much alive and well.
The most contentious presentation was delivered by Dr Piraye Yurttas Beim, director and chief scientific officer of the American company Celmatix. Unlike all the other presentations it didn't speak to published, peer-reviewed research and it had an unashamedly commercial focus. Dr Yurttas Beim explained how she and her colleagues proposed to make reproductive medicine more personalised, via the creation of clinical databases that are better tailored to the reproductive sector than currently available resources.
The presentation elicited a hostile reaction from the audience, both during the session and throughout the coffee break that followed. For myself, while I had practical and moral questions about Dr Yurttas Beim's approach, unlike some clinicians in the audience I thought it entirely appropriate that she had been invited to speak. The nakedly commercial side of fertility treatment - not to mention its place in the febrile American healthcare context - are an important part of Professor Edwards' legacy, that I do not think it should be off-limits to explore.
Overall, 'Futures in Reproduction' provided a rare opportunity to hear from a cross-section of the finest contemporary minds in reproductive biomedicine, all of whom are, in one way or another, building upon the remarkable foundations laid by Professor Edwards. And if you missed the conference, videos of the presentations are freely available on the conference website here.