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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 9I制作厂免费 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.

Classified as: 9I制作厂免费, health and lifestyle, CHU Sainte-Justine Research Center, neurodevelopmental diseases, Douglas Mental Health University Institute, Carl Ernst, Philippe Campeau, brain development
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Published on: 25 Apr 2019

Identification of a new gene causing scoliosis and bone malformations

A unique collaboration among Shriners Hospital for Children 鈥� Canada, CHU Sainte-Justine and 9I制作厂免费 has enabled researchers to identify genetic mutations involved in a rare disease that causes scoliosis and bone malformations.

The findings, published in The American Journal of Human Genetics, are likely to help doctors recognize the genetic disease, and could someday lead to therapies for the condition.

Classified as: Shriner's Hospital for Children, genetic diseases, genetic mutations, medicine, children, CHU Sainte-Justine Research Center
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Published on: 2 Nov 2017
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