New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of ...

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 ...

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

February 27, 2009 — Researchers have identified a mutation in THAP1 that cosegregates with primary torsion dystonia in affected members of 3 Amish-Mennonite families, according to an article published ...

The IQSEC2 gene encodes a guanine nucleotide exchange factor (Arf-GEF) that plays a critical role in synaptic regulation and neuronal development. Mutations in IQSEC2 have emerged as a significant ...

Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

Orphan Drug Designation applies to approximately 50,000 Patients who predominantly suffer from severe chronic pain due to ...

Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...

In rare cases -- for instance, among siblings in two families from Pakistan and Oman described in a new study -- children have been born with an unnamed neurological disorder. Now researchers have not ...

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 ...