“I was looking at individuals with birth defects, intellectual impairment and things like that,” said Dr. Katy Phelan. Genetic disorders are caused by an abnormality or mutation in one or more genes.

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

Findings appearing in NEJM also suggest different levels of impairment. A multinational group of investigators say that an aberration in a particular region of human chromosome 1q21.1 appears to be ...

When researchers first reported the sequence of the human Y chromosome, they referred to it as a "literal hall of mirrors." That is, the male sex chromosome, and in particular the genes essential for ...

By late life, a surprising share of men have blood cells that no longer carry the Y chromosome at all, according to large genetic studies in cohorts such as the UK Biobank. That quiet genetic drift ...

Neurological disorders affect the function of the nervous system. Common pediatric neurological disorders include ADHD, autism spectrum disorder, epilepsy, and cerebral palsy. Neurological disorders ...