This rare disease destroys a child's ability to walk and speak. Could a new drug help?

After a string of denials for rare disease treatments, the FDA greenlit a drug for Hunter syndrome, a progressive illness ...

LI dad fighting to find cure for son’s rare disorder wins congressional battle

A Long Island dad fighting to save the only research lab that he says can treat his 5-year-old son's rare genetic disorder ...

UCLA-led gene therapy clinical trial leads to FDA approval for rare immune disorder

A groundbreaking gene therapy tested through a UCLA-led clinical trial has received approval from the U.S. Food and Drug ...

Rare disease advocacy group urges Trump administration to restore FDA clarity

April 1 (Reuters) - A rare disease advocacy coalition on Wednesday urged the Trump administration to restore regulatory ...
BioSpace

Rare Disease Leaders Call for Regulatory Clarity as FDA Balances Urgency With Rigor

With CBER director Vinay Prasad set to depart the agency at the end of the month, a coalition of patient groups and biotech ...

Hope delayed: Families of children with Sanfilippo syndrome push FDA to speed up rare-disease treatment approvals

Advocates say expanding newborn screening for Sanfilippo syndrome could help future children before brain damage begins ...
The Observer

New Institute For Rare Diseases founded with donation from Reisenauer family

Founded on the pillars of policy, research, education and advocacy, this new institute within the College of Science aims to ...

Changing the long search for rare disease diagnoses with new AI breakthrough

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often ...
Medscape

Rare Sexual Disorders in Men May Challenge Diagnosis

Limited evidence and overlapping symptoms contribute to diagnostic uncertainty in rare sexual disorders, highlighting the ...
MM&M

Pediatric rare diseases are often underdiagnosed. GeneDx wants to change that.

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...
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 ...

Rare disease funds drop, unspent money piles up at key centres

Funding for rare disease treatment at Centres of Excellence has significantly dropped, with allocations falling from Rs 82.87 ...