Life-saving treatments for children with orphan illnesses often move slowly, if at all, through the federal approval process.
Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...
A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a ...
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 ...
Although medical researchers have identified more than 7,000 rare diseases and made tremendous scientific breakthroughs in the past 20 years, more than 90% of rare diseases still lack any FDA-approved ...
Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...
The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...
From February 24-26, 2026, the EveryLife Foundation for Rare Diseases (EveryLife Foundation) convened hundreds of patients, caregivers, advocates, researchers, and policymakers from 49 states, the ...
RICHMOND, Va. (WRIC) — Donna Reynolds of Richmond knows all too well the devastating toll that a rare disease can take, not just on an individual, but on an entire family. Her son, Kellan, was ...
Rare neurology is entering a pivotal moment. Scientific understanding is accelerating, new technologies are maturing, and the patient need remains profoundly unmet. As the biopharmaceutical community ...
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