A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

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

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

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

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 ...

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the use of personalized antisense oligonucleotides (ASOs). This innovative ...

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 ...