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Department of Genetics Fingerprinting to the Future My life changed on “ Monday morning at 9:05am, th “10th September 1984 25 Anniversary This was the morning of Professor Sir Alec of DNA Jeffreys’ ‘Eureka moment’ and the discovery Fingerprinting of genetic fingerprinting at the University of Leicester. In the 25 years that have followed, genetics at Leicester has continued to go from strength to strength. As an internationally renowned centre of pioneering research, the Department continues to push back the frontiers of knowledge in genetics. www.le.ac.uk/genetics 2 UNIVERSITY OF LEICESTER · DEPARTMENT OF GENETICS The implications of the discovery of DNA fingerprinting were to become massively far reaching, with applications in solving crime, testing paternity, twin studies, conservation and diversity and immigration, amongst others. The first of these applications came just the next year, a decade earlier than Sir Alec had anticipated. The dispute involved a family of UK citizens, originally from Ghana, whose son was refused re-entry to the UK after his passport was damaged. DNA evidence proved the boy was a could not have been responsible for full member of the family and the case either. 5000 local men were then asked was dropped. Sir Alec said; “Our first to volunteer blood or saliva samples. The application was to save a young boy true killer, Colin Pitchfork, persuaded a from wrongful deportation and it colleague to give a blood sample on his captured the public’s sympathy and behalf. When this was discovered, imagination. It was science helping an individual challenge authority.” “ Our first application was to save The first forensic case also captured the a young boy from wrongful public imagination, with the solving of two murders in the Enderby area of deportation and it captured the Leicestershire. A man had been public’s sympathy and arrested and confessed to one murder but not the other. The police decided imagination. It was science to utilise genetic profiling, expecting to helping an individual challenge prove him guilty of both crimes. Instead Dolly the first mammal ever to be cloned. the genetic results showed that he authority.” FINGERPRINTING TO THE FUTURE 3 Pitchfork was arrested and his profile biomedical research in Europe, and this tremendously old, obviously, with a was found to match that found at the was swiftly followed by the Albert long white beard, and also totally crime-scene. He was later imprisoned for Lasker Award for clinical medical terrifying.” In fact the power of this 30 years. research, and the Dr HP Heineken Prize “mythical me” has grown to such an for Biochemistry and Biophysics. He extent over the past five years that he Since these cases, DNA fingerprinting was voted the Morgan Stanley Great finds people who don’t know him has been used in countless ways, from Briton in 2006 and is an honorary sometimes arrive “literally trembling as solving crimes, to paternity cases, freeman of the City of Leicester. they come into the presence – it’s just through to proving the origin of Dolly so ridiculous”. the sheep, and exonerating death row The result has been, he says, to create prisoners through the use of DNA two Alec Jeffreys. “There is the me In fact, he says, the real me has barely evidence. The first such case was that of that you see sitting in front of you, changed at all over the years. “None Kirk Bloodsworth who was convicted of scruffy, enjoys getting his hands dirty, of this fame or all the rest of it has sexually assaulting and murdering a nine has a beer with the rest of them, and gone to my head,” he says. “Quite year old girl. Bloodsworth was that’s the bit of me that thoroughly often I find it a complete pain in the sentenced to death for these crimes and enjoys the science.” And then there’s butt because I just want to get on with served eight years in prison, two of the “mythical me”. “First I’ve got to be the science.” which were on death row. However DNA tests conducted in 1992 proved Bloodsworth had not committed the crimes and he was released from prison in 1993. Child MotherFather “ In 1984 I sat in a prison cell waiting to die for a crime I didn’t commit. I read about the work of Sir Alec Jeffreys and I had an epiphany: this could prove my innocence and set me free!” Meeting Sir Alec at the 2004 pride of Britain Awards, he said,”In 1984 I sat in a prison cell waiting to die for a crime I didn’t commit. I read about the work of Sir Alec Jeffreys and I had an epiphany: this could prove my innocence and set me free!” Alongside the massive practical implications, the discovery has also DNA Fingerprinting brought Sir Alec Jeffreys global The first DNA fingerprint was created at 9.05am on Monday 10 September 1984. Highly variable repeated parts of DNA called recognition. He was elected to the ‘minisatellites’ could be clearly seen, and in 1988 Sir Alec was able to Royal Society in 1986, and was describe the mutation rate between parents and their child’s DNA at awarded a knighthood for services to these mini satellites. genetics in 1994. Ten years later he received the Louis-Jeantet Prize for Medicine given to scientists distinguished for the highest quality of 4 UNIVERSITY OF LEICESTER · DEPARTMENT OF GENETICS Genetics at Leicester – the next 25 years Research in the Department has certainly not stood still since 1984 Since the establishment of the Department in 1964 with just seven members of academic staff, the Department has continued to grow its international reputation for research. There are now more than 20 academic staff members leading independent research groups, and the total size of the Department is around 140 strong, with an international flavour that is testament to its worldwide reputation. FINGERPRINTING TO THE FUTURE 5 Genealogy Current research in the Department has far reaching consequences for diverse areas such as genealogy, which Sir Alec predicts likely to emerge as a key application of the new gene technology – a kind of “Genes Reunited”. The current Holy Grail of geneticists is to churn out the human genome sequence for $1,000, and the price is bound to fall even further. Once anyone can pop down the high street to Genes R Us, have a quick mouth swab, and pick up their sequence for a few hundred pounds, what will they do with it? Jeffreys suggests that they will use it to identify others whose genome shows similar patterns of DNA, and Genetics United Nations: The Department currently includes members from 31 different countries therefore must be closely related. And they won’t just be able to identify their contemporary relatives. In theory, if you had importance of genes to the workings of conducting blue skies research to deliver the total genome sequence of everybody in biological clocks. answers to questions “that you never Britain you could go some way towards knew existed, and that to me is infinitely constructing the complete genealogy of the Crime more valuable because that sets the future UK going back hundreds of years. agenda.” A more controversial prediction is that at This will also have wide reaching least one country in the world will soon While the Department of Genetics has consequences for social history, enabling us introduce a DNA database of its entire inevitably changed in the 30 odd years he to trace patterns of social change through population. Jeffreys has spoken out about has been there, and expanded to around the movement of families. the UK’s police database holding DNA three times its original size, he believes its profiles of innocent people on the grounds fundamental ethos remains the same. Medicine that it only covers those who happen to Students, while perhaps more concerned have been stopped by police. But he is about their future employment prospects Another vital future impact is likely to be in more ambivalent about the idea of a than their equivalents in the 1970s, have the world of medicine. Over the next 25 years, Jeffreys says, a much more detailed universal database run independently from not changed in quality or their level of catalogue of genetic variants and their the police and able to identify bodies from enthusiasm, and staff have been ability to combat diseases will become mass disasters such as the Asian Tsunami, consistent to the principles of Bob available. Huge steps have already been or even regular traffic accidents. He Pritchard, who founded the Department made in identifying genes that affect proposes that this database should hold almost along the lines of a commune, says diseases such as Type 2 diabetes, not DNA profiles but DNA ‘PINs’ derived Jeffreys “where there are no prima schizophrenia and manic depression, but from scrunching down DNA profile donnas, everybody gets on in a good over the next few years further progress is information. This would create merely an collegiate interactive way with each expected in discovering how genes work identity number and remove information other”. This was what attracted Jeffreys in not just individually but with each other, on personal traits or family relationships. If the first place and he maintains that “that and with the environment, to cause and police wanted access to this database they sense of community, that sense of glue combat disease. Scientists are also would need a court order. “I’m not saying holding us all together in a common beginning to understand more about how we should even go down this road,” he purpose is as strong as ever”.