rare diseases News
Latest articles and news about rare diseases on AXL Media.
Latest Articles
- Singapore student Abigail Chua manages rare MERRF syndrome after inheriting genetic condition from mother
Published: Apr 11, 2026
Section: Asia
Abigail Chua, a 20-year-old art student, is navigating the complexities of Myoclonic Epilepsy with Ragged-Red Fibres syndrome, a rare mitochondrial disorder. The condition, which a...
- Breakthrough Oral Molecule Eliminates Kidney Stones and Prevents Renal Failure in Lethal Disease Study
Published: Apr 3, 2026
Section: Health
Scientists at the Buck Institute for Research on Aging have discovered that an oral small molecule, N-propargylglycine (N-PPG), can completely prevent the formation of calcium oxal...
- Clinical study reveals AI models outperform pediatricians in rare disease diagnosis while offering a powerful "second opinion" framework
Published: Mar 31, 2026
Section: Health
A peer-reviewed study from Hospital Sant Joan de Déu in Barcelona demonstrates that advanced large language models achieve higher diagnostic accuracy than clinicians in complex ped...
- Karolinska Study Confirms Whole Genome Sequencing as Superior Diagnostic Tool for Rare Disease Identification
Published: Mar 31, 2026
Section: Research
A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome sequencing (WGS) into routine cli...
- Karolinska Institutet Implements Whole Genome Sequencing to Diagnose Thousands of Rare Disease Patients
Published: Mar 30, 2026
Section: Health
A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome sequencing into routine clinical...
- Critical Path Institute Launches One to Millions Initiative to Standardize and Scale Individualized Genetic Therapies for Rare Diseases
Published: Mar 27, 2026
Section: Science & Tech
The Critical Path Institute has introduced "One to Millions," a global public-private partnership designed to modernize regulatory and reimbursement frameworks for highly individua...
- Critical Path Institute Launches Global One to Millions Initiative to Scale Individualized Medicine via Modular Regulatory Frameworks
Published: Mar 27, 2026
Section: Science & Tech
The Critical Path Institute has introduced a public-private partnership designed to bridge the gap between rapid genetic breakthroughs and stagnant regulatory models. By leveraging...
- Scientific Breakthrough Identifies CD99L2 Gene as Primary Cause of Rare X-Linked Spastic Ataxia
Published: Mar 17, 2026
Section: Science & Tech
A joint research team from Bochum and Tübingen has pinpointed disease causing variants of the CD99L2 gene in a massive cohort of 2,811 patients. The study, published in Nature Comm...