An international team of researchers report in the journal Nature Immunology that a mutation in the gene OTULIN causes ...
An international team of researchers has identified a genetic cause for a rare inflammatory skin condition.
A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often ...
Scientists have uncovered a surprising new genetic cause of a rare movement disorder after analyzing nearly 3,000 patients ...
U.S. Market Expected to Hit USD 1.80 Billion by 2035; Europe Projected to Reach USD 1.67 Billion as Rare Disease Screening Programs Expand.Austin, United States, June 08, 2026 (GLOBE NEWSWIRE) -- “As ...
Texas newborns are now screened for a rare genetic disorder called GAMT deficiency, expanding the state’s testing panel to 60 ...
A Travis County family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ...
Hundreds of millions of people worldwide are affected by rare diseases. Behind every case is a family enduring a diagnostic odyssey that can last for years. To improve how public health systems help ...
For decades, newborn screening has relied on a heel-prick blood test that identifies a limited number of serious conditions ...