A skin biopsy can detect a rare neurodegenerative disease

By determining the structure of the deposits responsible for transthyretin amyloidosis through a simple skin biopsy, ...

Lab-grown mini-stomachs could boost understanding of rare diseases

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...
BioSpace

Rare Disease Biotechs Stand To Lose $4B if Priority Voucher Program Not Reinstated: Report

Some 200 rare disease therapies are at risk of losing eligibility for a pediatric priority review voucher, a recent analysis ...

Jaguar Health Highlights Sharp Strategic Focus on Rare Intestinal Failure Diseases Fueled by Non-Dilutive Funds from Closing of License Deal for Mytesi

Jaguar has received the initial $16M payment related to the company's recently executed US out-license agreement for ...

Muscular Dystrophy Association Marks Rare Disease Day by Spotlighting Community Stories Driving Progress in Research, Care, and Advocacy

Muscular Dystrophy Association Marks Rare Disease Day by Spotlighting Community Stories Driving Progress in Research, Care, ...

Rare cranial disorders: Towards a non-invasive therapy using gene silencing delivered by nanoparticles and 3D printing

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...
STAT

Parents of children with rare diseases ask: How long until our CRISPR miracle?

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

My toddler's rare disease was spotted with 24 hours to spare

Ashleigh McGeogh's daughter Delilah was diagnosed with Kawasaki disease, a condition that is the leading cause of acquired ...
STAT

‘Where’s our CRISPR miracle?’

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...
WDIO News

Solon Springs musher, Canine Genetics Lab collaborate to research a rare disease

A Solon Springs musher is working with the University of Minnesota's Canine Genetics Lab to research a rare disease and its ...
University of Geneva

A skin biopsy to detect a rare neurodegenerative disease

By determining the structure of the deposits responsible for transthyretin amyloidosis through a simple skin biopsy, scientists at UNIGE are paving the way for a new diagnostic method for ...