Natera NTRA announced the commercial launch of Zenith genomics, a next-generation whole genome sequencing assay designed to ...

Thus far, 7,600 genetic diseases have been identified and more are being discovered every year. Read more at straitstimes.com ...

This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.

Note: Some submissions are from this Reddit thread. 1. "Pentalogy of Cantrell, which is when the heart is outside of the chest because the sternum has not fused. I'd seen it before with just a bit of ...

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Under a scientific, ethical and transparent approach, stem cell banking is a considerate move towards sustainability.

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

There are currently no available treatment options for more than 90% of the approximately 7,000 rare diseases identified to date. However, if these conditions result from correctable cellular or ...

The programme was attended by Padma Shri awardee Dr Armida Fernandez, a neonatologist known for establishing Asia’s first human milk bank in 1989. She appreciated the hospital’s initiative to create a ...

Coryssa Barnes, of Henderson, N.C., welcomed her first child, Ezra, in 2020. At four months old, he was unable to sit without support. As time went on, he failed to reach other developmental ...