Rare disease families find roadmap to drug development at bootcamps

Ultragenyx’s Rare Bootcamp gives families a roadmap to help drive research and develop new treatments for rare diseases.

Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided ...
The Tufts Daily

GUARDIAN: The newborn screening study redefining early detection for rare diseases

The survival rate in infants with severe combined immunodeficiency, a rare hereditary disease that prevents the body from producing immune cells, is 96% when they receive a bone marrow transplant in ...
Mississippi Today

Mississippi rare disease task force comes as families travel out of state for care

Mississippi is launching a Rare Disease Task Force within the Mississippi Rare Disease Advisory Council to study issues ...
The Daily Northwestern

Northwestern study explores using RNA therapy on epilepsy patients before birth

Eight Northwestern researchers published a study April 29 detailing how RNA therapy could be used before birth to combat a ...
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 ...
FiercePharma

FDA’s rare pediatric disease voucher program revived by 2026 government funding bill

The Consolidated Appropriations Act of 2026, signed by Trump on Feb. 3, includes a provision reinstating the Mikaela Naylon Give Kids a Chance Act and reviving the rare pediatric disease (RPD) ...
CNBC

A lost voice, a rare disease and the family conversations that followed

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases. Here are some of the stories we received. Living with a rare disease ...

Treatment of rare childhood epilepsy could begin before birth

Research has shown early diagnosis and treatment of epilepsy disorders can improve outcomes. The question of when to ...
STAT

My granddaughter has a rare disease. But clinical trials often exclude patients like her

As the grandfather of a girl with a rare disease, I’ve learned that for families like ours, hope often comes not as a cure, but as a clinical trial: carefully designed but inevitably exclusive. My ...
The Mirror US on MSN

Miracle baby 'born twice' after undergoing groundbreaking surgery to cure rare disease

Cassian Joubert, now 8 months old, was diagnosed at 19 weeks in utero with congenital high airway obstruction syndrome, or ...
Medical Xpress

Rare Diseases

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how ...