Scientists use next-gen sequencing to rapidly discover genetic cause of devastating disorder
Wednesday, January 13, 2010 - 11:21
in Biology & Nature
Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.