Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a ...

Study explains long-standing question of why Huntington’s disease symptoms typically do not appear until midlife even though ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Researchers have described the neurodegeneration that occurs in the nervous system of the bowel in Batten disease, a rare and fatal genetic condition. In their latest study, a team showed that gene ...

Scientists are unraveling the mystery of what triggers Huntington’s disease, a devastating hereditary disorder that strikes ...

Recent findings uncover how Huntington's disease develops over time, revealing the mutation's delayed effects on brain cells.

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human ...

Scientists uncover how a genetic mutation linked to Huntington's disease stays harmless for years before expanding and causing cell death. The study discovers that DNA repeats must exceed 150 CAGs to ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

The Fortune 500 pharma giant will sequence the exomes of 10 million people, with the goal of developing new therapies and ...

Drug coverage for four drugs used to treat some rare diseases was announced in Fredericton on Wednesday under a $32-million ...