How Exeter’s genomics research has provided answers for families with congenital hyperinsulinism скачать в хорошем качестве

How Exeter’s genomics research has provided answers for families with congenital hyperinsulinism

Scientists at the University of Exeter have discovered the cause of the rare condition congenital hyperinsulinism within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning genes on or off, and in doing so they have found a key that could unlock other causes of rare conditions. Professor Sarah Flanagan explains her work and its implications for families and the scientific community. Georgina, whose daughter Tilly has congenital hyperinsulinism, reveals why she welcomes the research. https://www.exeter.ac.uk/research/dia...