Researchers at BC Children's Hospital discover a rare genetic disease linked to an overactive MARK4 gene causing developmental delays and seizures in children.

Researchers at BC Children's Hospital have discovered a rare genetic disease causing developmental delays and seizures in children. The disease, linked to an overactive MARK4 gene, affects the healthy development of young brains and is one of the thousands of rare diseases impacting one in 25 children born in British Columbia. The hospital's Precision Health Initiative aims to increase the success rate of rare disease diagnoses by 25%, from the current 50% to 75%, by using advanced technologies like machine learning and genetic research.

February 15, 2024
12 Articles

Further Reading