Over the past 20 years, genetic testing and the understanding of genetic mutations have helped advance treatment options for ...

It’s easy to assume having a mom or grandmother with breast cancer doesn’t impact your own health, but that’s not the case.

This year, ASHG is pleased to recognize seven recipients of its 2026 Professional Awards for their outstanding achievements in human genetics and genomics research, education, mentorship, and public ...

Opus Genetics , a, North Carolina-based clinical-stage biopharmaceutical company developing gene therapies for inherited ...

Estuary Biotherapeutics has swum out of stealth with $103 million in funding to power a pair of gene therapies into clinical ...

In a finding that could reshape how clinicians think about one of the rarest neurodevelopmental disorders on record, a team ...

Somatic mutations, the DNA changes that occur as our bodies grow and age, not only hold an important key to cancer but are ...

Researchers in a Mayo Clinic-led study have shown how to detect a broad range of DNA mutations in noncancerous human tissues ...

OPGx-BEST1 showed improved retinal sensitivity in 75% of evaluable participants in the initial low-dose Cohort 1 of the Company’s Phase 1/2 ...

OPGx-LCA5 is an investigational adeno-associated virus serotype 8 (AAV8)-based gene therapy designed to deliver a functional copy of the LCA5 gene to retinal photoreceptors. Mutations in LCA5 disrupt ...

Scientists in Norway have identified a potential mechanism that could help explain the development of certain childhood ...

A Chinese case report documents the prenatal ultrasound detection of congenital knee dislocation and traces it to a de novo ...