Penn medical student who is genetic carrier of rare form of ALS on mission to develop gene therapy

Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.
Earth.com

New FDA framework could expand treatment access for rare genetic diseases

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...
Morning Overview on MSN

DeepRare AI beats doctors in rare disease diagnosis test

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, ...

For North Texas families battling rare disease, new FDA proposal offers hope

A new federal proposal aimed at speeding approval of gene therapies for ultra-rare diseases could offer renewed hope to North Texans like Kasey and ...
Jacobs School of Medicine and Biomedical Sciences - University at Buffalo

Highlighting Advancements in Treatment of Rare Diseases

This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.

Cure Rare Disease and LGMD2L Foundation Announce Multi-Year Partnership to Develop Gene Therapy for Anoctamin 5-Related Disease

Cure Rare Disease (CRD), a non-profit biotechnology organization, today announced a landmark partnership with the LGMD2L Foundation. This collaboration is backed by a generous commitment of $7.65 ...

FDA approves Wellcovorin for ultra-rare disease. The Trump admin touted it as a treatment for autism

The Food and Drug Administration (FDA) on Tuesday granted expanded approval to Wellcovorin for the ultra-rare disease cerebral folate deficiency (CFD) in both children and adults, the same ...
Science Daily

Mayo Clinic discovers rare gene mutation that causes fatty liver disease

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

St. Louis Families Unite for Rare Disease Day 2026; Take Part Foundation Advances Critical Genetic Testing and Research

St. Louis Families Unite for Rare Disease Day 2026 as Take Part Foundation Advances Critical Genetic Testing and ...
ucdavis.edu

Where's Our CRISPR? New Treatments Promise Hope for Rare Diseases, But Wait May be Long

CRISPR gene editing has now been used to treat a genetic defect in a child, giving hope to parents of children with rare inherited diseases. While hopes are high, clear communication about the ...
Labiotech.eu

Rare Disease Day: is a regulatory overhaul what the therapeutic field needs?

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development ...

Mother channels fear into advocacy after son’s rare disease diagnosis

Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be ...