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.

Humans are now known to have between 20,000 and 25,000 genes, but researchers still have much to learn about these small ...

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

The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...

The Phase Ib trial is set to test a gene therapy designed to target a rare disorder that causes muscle and respiratory failure.

Penn Medicine is one of the first institutions to develop FDA-approved CAR T-cell therapies. This therapy is currently ...

Haliza Md Kasim’s eyes widened. Despite having gone through this before with her first son, Yusof, and despite the doctors ...

On December 17, 2024, the Department of Health & Human Services, Office of Inspector General (HHS-OIG) issued its second favorable advisory ...

From Adrenoleukodystrophy to Zollinger Ellison Syndrome, there are currently over 7,000 diseases identified as rare. In the U.S., the Orphan Drug Act of 1983 defines a disease as “rare” if it affects ...

‘The message I want to convey is that by investing in research, health and education we can improve people’s lives. Eric ...

Asher Cantrell, diagnosed with SMARD 1, has received experimental gene therapy after social media support and is currently ...

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