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Hans Björnsson Selected for Medical Genetics Award
April 2014—Hans Björnsson, M.D., Ph.D., assistant professor at the McKusick-Nathans Institute of Genetic Medicine (IGM), has been selected to receive the William K. Bowes, Jr. Award in Medical Genetics for 2014 from the Partners HealthCare Center for Personalized Genetic Medicine. He will be presented with the award on June 18, 2014, at a ceremony in Boston. Earlier that day, he will join a renowned senior scientist to present Grand Rounds at Harvard Medical School.
The award is given each year to an outstanding physician or scientist who recently completed his or her board certification in the area of medical genetics and includes a $20,000 cash prize. He will become the second faculty member from the IGM to win the award in the nine years it has been given. The first recipient was Ronald Cohn, M.D., in 2006.
The award recognizes the contributions of Björnsson lab’s toward understanding the pathogenesis of Kabuki syndrome, an inherited genetic disorder that disrupts the histone machinery—proteins that help regulate the structure of chromosomes. The rare disorder causes a wide range of physical abnormalities and intellectual disability. Recently, the lab has characterized a mouse model of Kabuki syndrome and found that manipulating certain chemical tags on the tails of the histone proteins in the mice can correct many of their functional abnormalities, suggesting that the intellectual disability caused by Kabuki syndrome may be treatable.