Scientists from a collaboration of Australian research institutions have proposed that editing multiple genetic variants in ...

The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...

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

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

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

The European consortium for Solving the Unsolved Rare Diseases has demonstrated the significance of international ...

Researchers at Tufts University revealed a possible molecular mechanism explaining how the DNA repeats are broken and then expanded in the Huntington’s disease gene, pointing to a component of the ...

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

More Than 40 Adult Sickle Cell Disease Patients Now Enrolled in BEACON Trial of BEAM-101; Beam Expects to Dose 30 Patients ...