rare disease News
Latest articles and news about rare disease on AXL Media.
Latest Articles
- Global Research Team Utilizes Whole Exome Sequencing To Identify Novel Congenital Disorder Of Glycosylation Linked To RPN1 Gene
Published: Apr 16, 2026
Section: Health
Scientists at Sanford Burnham Prebys and international collaborators have discovered a previously unknown rare genetic disease by identifying a mutation in the RPN1 gene. The study...
- Cardiff Woman Uses ChatGPT to Identify Rare Genetic Condition Following Four Years of Medical Misdiagnosis
Published: Apr 10, 2026
Section: Medical News
Phoebe Tesoriere, a 23-year-old former teacher from Cardiff, successfully utilized an AI chatbot to uncover a rare neurological disorder after being repeatedly dismissed by healthc...
- Exeter Scientists Uncover Non-Coding DNA "Hidden" Causes for Neonatal Autoimmune Diabetes
Published: Apr 9, 2026
Section: Medical News
In a landmark study, researchers at the University of Exeter have identified mutations in non-protein-coding genes as a cause of autoimmune neonatal diabetes. By sequencing the ent...
- Neurocrine Biosciences Enters Metabolic Market with $2.9 Billion Cash Acquisition of Soleno Therapeutics
Published: Apr 7, 2026
Section: Markets
Neurocrine Biosciences has agreed to acquire rare-disease specialist Soleno Therapeutics for $2.9 billion to secure Vykat XR, the first FDA-approved treatment for Prader-Willi synd...
- Mount Sinai Discovers Recessive ReNU2 Syndrome: The Most Prevalent Recessive Neurodevelopmental Disorder to Date
Published: Mar 30, 2026
Section: Research
Researchers at the Icahn School of Medicine at Mount Sinai have identified a previously unknown genetic condition caused by mutations in the non-coding gene RNU2-2. Estimated to ac...
- University of Chicago and IDefine Launch Rapid Response Research Program to Engineer First-of-its-Kind Molecular Therapy for Kleefstra Syndrome
Published: Mar 27, 2026
Section: Science & Tech
The University of Chicago Department of Chemistry has partnered with the advocacy group IDefine to launch a six-month intensive research program targeting Kleefstra syndrome (KLEFS...
- Singaporean Family Hits $2.4 Million Crowdfunding Target to Secure Life-Saving Gene Therapy for Infant Son
Published: Mar 27, 2026
Section: Asia
Norhaziqah Rosli and Rahman Rahim have successfully raised $2.4 million through a Ray of Hope campaign to fund a one-time gene therapy for their 10-month-old son, Faziq. The treatm...
- SynGAP Research Fund rebrands as CURE SYNGAP1 to accelerate therapeutic development for rare genetic disorders
Published: Mar 21, 2026
Section: Science & Tech
The SynGAP Research Fund (SRF) has officially transitioned to the name CURE SYNGAP1 to better align its public identity with its mission of delivering disease-modifying treatments....