Québec siblings with rare orphan disease lead to discovery of rare genetic diseases

webfull — Thu, 25 Apr 2019 15:06:05 +0000

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 91�� and CHU Sainte-Justine Research Center.

The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Québec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to Carl Ernst at the Douglas Mental Health University Institute in Montreal for answers.

Published: 25 April 2019

Brain development controlled by epigenetic factor

webfull — Tue, 10 Mar 2015 19:30:40 +0000

91�� researchers have discovered, for the first time, the importance of a key epigenetic regulator in the development of the hippocampus, a part of the brain associated with learning, memory and neural stem cells. Epigenetic regulators change the way specific genes function without altering their DNA sequence. By working with mutant mice as models, the research team, led by Prof. Xiang-Jiao Yang, of 91��’s Goodman Cancer Center & Department of Medicine, 91�� Health Center, was able to link the importance of a specific epigenetic regulator known as BRPF1 to the healthy development of a region in the hippocampus called the dentate gyrus.

Published: 10 March 2015

91������ News - brain development

Québec siblings with rare orphan disease lead to discovery of rare genetic diseases

Brain development controlled by epigenetic factor

91�� News - brain development