Influencer Dies at Age 5 from Rare Genetic Disorder

Jelte, a five-year-old from the Netherlands, died on June 16 ...

Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often ...

This New DNA Test Solves Rare Disease Mysteries That Standard Genetics Misses

A new long-read DNA test improves rare disease diagnosis, replaces multiple existing tests, and could become the preferred ...

Genetic cause for rare skin condition points to new therapeutic option

An international team of researchers report in the journal Nature Immunology that a mutation in the gene OTULIN causes ...

Servier and n-Lorem Foundation join forces to advance research in rare neurodevelopmental disorders

Servier, an independent international pharmaceutical company governed by a foundation, and n-Lorem Foundation, a non-profit organization established to charitably provide experimental medicines to ...

Pawan Kalyan visits young fan battling rare genetic disorder, provides financial assistance

Pawan Kalyan visited 17-year-old Niranjan in Hanumakonda, who suffers from a rare genetic disorder and, offered financial aid ...
The Manila Times

Chiesi Global Rare Diseases Announces European Commission Approval of LOJUXTA® (lomitapide) Capsules for Paediatric Use in Homozygous Familial Hyperc…

European Commission approval expands the indication of lomitapide in the European Union (EU) to include children 5 years of ...

AI helped diagnose 18 children whose rare diseases had stumped doctors

Researchers from Boston Children’s Hospital identified 18 diagnoses for children with rare diseases using OpenAI’s o3 model.

Global Rare Disease Genetic Testing Market Projected to Hit USD 5.72 Billion by 2035, at 15.36% CAGR – SNS Insider

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 ...