In April 2009, a Quebec family experienced the worst tragedy for parents: before the age of one, one of their sons died of a rare genetic disease causing congenital microcephaly, intellectual disability, cerebral atrophy, and refractory seizures. The event was even more tragic because it was the third infant to die in this family from the same disease.
This tragedy led Dr. Jacques Michaud, professor in the Faculty of Medecine of Université de Montréal and Doctor at CHU Ste-Justine Hospital, to discover the genetic abnormality responsible for this developmental disorder. Continue reading
