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This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
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12,000-year-old case of rare genetic disease confirmed in major breakthrough in medicine
Researchers identified the earliest case of a genetic disease with the help of DNA: ...
Some 200 rare disease therapies are at risk of losing eligibility for a pediatric priority review voucher, a recent analysis ...
The Senate failed to pass a massive spending bill on Thursday—which includes the rare pediatric PRV program but also funding for the Immigration and Customs Enforcement’s large-scale crackdown in ...
In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA ...
Hackathons using AlphaGenome and other AI models are hunting down the genetic causes of devastating conditions that have ...
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 ...
A 2-year-old boy died from a rare disease with flu-like symptoms, just weeks before his third birthday. Hudson Hughie Martin, ...
For more than 30 million people in the United States, living with a rare disease means facing lifelong challenges. Their journey often begins with uncertainty: an average diagnostic odyssey of five or ...
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 ...
The son of an Arlington man arrested by immigration officials late last year has died from a rare disease, prompting a fresh ...
Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...
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