A 6-week-old boy is fighting for his life inside OHSU Doernbecher's pediatric intensive care unit after being diagnosed with ...

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

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 ...

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.

Federal health officials on Monday laid out a proposal to spur development of customized treatments for patients with hard-to-treat diseases, including for rare genetic conditions that the ...

Blindness and deafness in some infants and sickle cell are among the conditions cured in recent gene therapy trials.

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

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 ...

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 ...

Human cells have two copies of each chromosome, and this balance is essential for genes to be expressed in the appropriate ...

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 ...

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 ...