One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

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

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

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

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

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

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 ...