When CAG nucleotide triplets repeat excessively in a gene called huntingtin, a devastating and currently untreatable neurodegenerative “repeat expansion disorder” arises called Huntington’s Disease ...

Peter L. Salgo, MD: Hello, and thank you for joining this AJMC® Peer Exchange titled “A Closer Look at Rare Diseases: Spinal Muscular Atrophy and Huntington Disease.” With 250 diseases newly ...

Scientists at The Hospital for Sick Children and the University of Toronto have shown that the DNA flanking region in a family of neurological disorders is triggering the genetic mutation that ...

Armed with base editors, scientists from the laboratory of David Liu, PhD, professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute, and their ...

Fuchs' corneal dystrophy is one of the most common eye diseases diagnosed in almost 5% of the population of Europe aged 40 years or over. It is a hereditary eye disease that causes vision impairment ...

The inheritance of mutated version of either BRCA1 or BRCA2 confers a high risk of developing breast cancer. However, only 10-20 % of the breast cancer families carries BRCA mutations, suggesting the ...