Five families have come to Children’s Hospital researchers for help diagnosing yet-to-be-identified diseases, and scientists are hoping clues to potential cures lie in genetics.
Alan Beggs, Sir Edwin and Lady Manton Professor of Pediatrics at Boston Children’s Hospital; and Isaac Kohane, inaugural chair of the Department of Biomedical Informatics at Harvard Medical School and Lawrence J. Henderson Professor of Pediatrics at Boston Children’s Hospital, are quoted.