The University of Alabama at Birmingham

Discovery of rare genetic disorder inspires advocacy and research efforts

Ahn has studied SON since the early 2000s. After the discovery of ZTTK, she co-founded the ZTTK SON-Shine Foundation in 2021 ...
Baylor College of Medicine

NIH awards more than $15 million to fund two rare diseases consortia

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare ...

Data investigation: Childhood vaccination rates are backsliding across the U.S.

A monthslong NBC News data investigation finds that much of the U.S. doesn't have the protection needed to stop the spread of ...
The Lancet

Sickle cell disease: a neglected health priority

September is National Sickle Cell Awareness Month in the USA, designated by Congress to help focus attention on the need for ...

Childhood dementia claims one Aussie baby every three days

There’s one group of people who don’t need convincing that dementia is not an old person’s disease – and that’s the parents ...

Families plead with FDA to approve rare disease treatment

Families of kids with PDCD are urging the FDA to approve DCA, a treatment that could extend their children's lives despite ...

Harnessing Nature's Wisdom: Gene-Editing Therapy For Cardiovascular Disease

The commercial success of existing lipid-lowering medications highlights the enormous market potential for effective ...
WOKV

Jacksonville man walks to end rare disease

JACKSONVILLE, Fla. — A Jacksonville man is walking to end the rare, incurable disease he lives with every day. Tim Nightingale lives with Charcot-Marie-Tooth disease (CMT), which is an inheritable, ...
Scientific American

Gene Therapy Marks a Turning Point for Rare Skin Diseases

This article is part of Nature Outlook: Skin, an editorially independent supplement produced with financial support from LEO Pharma. About this content. KaDee Troop is the mother of seven adopted ...
Local 12 WKRC Cincinnati

Boy fighting rare disease welcomed as special member of local university's soccer team

CRESTVIEW HILLS, Ky. (WKRC) — The Thomas More University men's soccer team welcomed a special member, Cohen Bramlee, to a game in person for the very first time. Cohen Bramlee was diagnosed with a ...
Medical Xpress

Genomics study establishes new rare disease diagnosis framework

A study in China covering 42,703 families affected by rare diseases across 32 provincial regions of China has established a new diagnosis framework for rare diseases. It offers new hope to millions of ...