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 ...

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

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

Researchers at North Carolina State University have pinpointed the Andes Mountains as the birthplace of the infamous Irish ...

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 ...

A recent study published in Cell reveals that the repeated DNA sequence that leads to Huntington’s disease (HD) expands ...

A research team at Western Michigan University Homer Stryker M.D. School of Medicine has made a significant discovery.

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