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Archive - Jun 17, 2013

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Genome Sequenicing Reveals Cause of Paracycling Champion’s Rare Condition

British National Paracycling Champion Tom Staniford has an extremely rare condition which, until now, has puzzled his doctors. He is unable to store fat under his skin – yet has type 2 diabetes – and suffered hearing loss as a child. Now, thanks to advances in genome sequencing, an international research team led by the University of Exeter Medical School has identified Tom's condition and pinpointed the single genetic mutation that causes it. As well as allowing a better understanding of Tom's condition, the discovery may have implications for his bid to participate in the Rio 2016 Paralympic Games. He hopes this new diagnosis will allow him to be more accurately classified in paracycling competitions; a more accurate classification could help him become a world champion. In a study published online on June 16, 2013 in Nature Genetics, researchers funded in part by the Wellcome Trust and the National Institute for Health Research have identified the genetic mutation behind MDP Syndrome, a condition thought to affect as few as eight people in the world, including 23-year-old Staniford. "In some ways, identifying the syndrome behind my symptoms shouldn't be important – a name is just a name, after all – but it is reassuring to know that there are other people with the condition and that we can lead relatively normal lives," says Staniford. "What could prove crucial, though, is enabling me to be properly classified in competitions so that I am not competing at an unfair disadvantage against others. I hope to be able to compete for Great Britain in the 2016 Paralympics and this finding could make a real difference to my chances." In 2011, Tom became the youngest solo cyclist ever to become British National Paracycling Circuit Race Champion.

GEN Covers Exosome Research on Front Page of June 15 Issue

Research on “exosomes” is the subject of the cover story of the June 15, 2013 issue of Genetic Engineering & Biotechnology News (GEN) (http://www.genengnews.com/). Exosomes are tiny subcellular membrane-bound vesicles (30-150 nm in diameter) that are released by a wide variety of normal cell types and cancer cells, and that can carry membrane and cellular proteins, as well as microRNA (miRNA), and various other types of RNA, including mRNA fragments, representative of the cell of origin. It is thought that exosomes may serve the purpose of shuttling information from one cell to another. For instance, it has been shown that exosomes can carry material from cancer cells that acts to suppress the immune system and stimulate angiogenesis, thus encouraging cancer growth. The GEN article covers some of the exciting research presented at the 2013 International Society for Extracellular Vesicles (ISEV) annual conference held in Boston, April 17-20. The article includes a discussion of Novartis’s Maja M.