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 ...

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 ...
Science Daily

A hidden gene finally explains this rare neurological disorder

Scientists have uncovered a surprising new genetic cause of a rare movement disorder after analyzing nearly 3,000 patients ...

Ultra-rare gene variant appears as schizophrenia or autism in one island family

For most of a century, psychiatry has kept its disorders in separate rooms. Schizophrenia in one. Bipolar disorder in another ...
Forbes

Realizing The Promise: How Personalized Gene Editing Can Treat Ultra-Rare Diseases

In May 2025, the world celebrated the success of KJ, an infant who was treated with the world’s first personalized CRISPR gene editing therapy. KJ was born with severe carbamoyl phosphate synthetase 1 ...

First-in-the-world gene therapy delivers missing gene directly to infant's brain

An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene ...

Israeli hospital performs world's first experimental gene therapy for rare genetic epilepsy

The treatment, administered at Schneider Children’s Medical Center of Israel in Petah Tikva, is a major milestone in the ...
News Medical

Genetic research identifies rare DNA changes causing common heart valve defect

New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers in Sweden have identified rare DNA changes during fetal development that can ...

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 ...