GeneDx announced a record-setting year for its research programs, reinforcing its position as the global leader in rare ...

More than 500 European patients with previously undiagnosed rare disorders received a genetic diagnosis through research carried out by an extensive European collaboration, the Solve-Rare Diseases ...

A new study from Karolinska University Hospital and Karolinska Institutet in collaboration with Uppsala University Hospital ...

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.

The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

BioMarin Pharmaceutical said on Friday it would acquire Amicus Therapeutics for about $4.8 billion, in the drugmaker's second deal this year to expand its presence in rare diseases.

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Source: Mark L. Ruffalo, D.Psa., L.C.S.W. Psychosis has historically been defined as "the loss of contact with reality" and can be observed in various mental disorders, including schizophrenia, ...

Lindsey Johnson Edwards is sharing what it is to be in her 20s and live with CLOVES syndrome Lindsey Johnson Edwards/TikTok Lindsey Johnson Edwards was born with Klippel-Trenaunay syndrome, later ...