A new study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role ...

An international team of researchers co-led by Job Dekker, PhD, at UMass Chan Medical School, have identified rules that tell cells how to fold DNA into the tightly packed, iconic X-shaped chromosomes ...

Today, I worry it could come too late to help my son. My son, Declan, has Barth syndrome. This ultra-rare genetic mitochondrial disease affects fewer than 150 people in the United States.

Females have two X chromosomes (XX ... Individuals with Down's syndrome have reduced muscle tone and learning difficulties. It is caused by an extra chromosome at chromosome 21.

This competition, or arms race, is typically hard to observe–except when the genes in question live on the X and Y chromosomes, which determine the sex of offspring in mammals. In mice ...

Get Instant Summarized Text (Gist) Mavoglurant, initially developed for fragile X syndrome, shows promise in reducing cocaine use disorder. A Phase II clinical trial with 68 participants revealed ...

"The acceptance of our Fragile X syndrome OLE data as a podium presentation at AAN underlines the significant unmet need in FXS, and the potential for ZYN002 to become the first-and-only approved ...