For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing ...

Italian drive to increase diagnosis rates in children with severe genetic disorders is achieving transformative results. The ...

Eight years of the Telethon Undiagnosed Disease Program: nearly 1 in 2 children receive a molecular diagnosis. A new study in ...

Dr. David Buchner is an accomplished geneticist and educator whose career spans more than two decades of research and leadership in human genetics, metabolic disease, and computational genomics. He ...

BETHESDA, MD – February 4, 2026 | The ACMG Foundation for Genetic and Genomic Medicine (ACMGF) is pleased to announce that Bo Yuan, PhD, FACMG, has been selected as the recipient of the 2026 Dr.

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at ...

Despite advances, whole genome sequencing — and with it the promise of early, life-altering therapies — still isn’t a routine part of care for most newborns. Many babies enter the world with silent ...

It's time to ditch the one-size-fits-all approach in medicine. From cancer care and cardiology to TB and rare disorders, DNA ...

In recent years, the U.S. Food and Drug Administration has approved more than a dozen gene-editing and cell-based therapies. We are now in the second great wave of the genetic revolution, not defined ...