Qu茅bec siblings with rare orphan disease lead to discovery of rare genetic diseases
Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at 黑料不打烊 University and CHU Sainte-Justine Research Center.
The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Qu茅bec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children鈥檚 family turned to Carl Ernst at the Douglas Mental Health University Institute in Montreal for answers.
Ernst, who is also a professor in 黑料不打烊鈥檚 Department of Psychiatry, and his team used harvested skin cells from the toddlers and 鈥渞eprogrammed鈥� them to assume a stem cell-like state鈥攊nduced pluripotent stem cells (iPSC). By making neurons from the iPSCs and comparing them to those of healthy individuals, the researchers found that they did not develop properly. Upon further investigation, they discovered a potential culprit: the family carried a mutation in聽ACTL6B聽鈥� an epigenetic regulator implicated in neuronal development.