In ongoing and planned clinical trials, The Ohio State University College of Medicine is working to advance a directed gene therapy — one using direct infusion and not a viral vector — to help people with aromatic L-amino acid decarboxylase (AADC) deficiency and other neurological disorders that remain incompletely…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Because the rare disease community needs allies to promote its interests in areas that include health parity, proper diagnoses, treatment access and affordability, the National Organization for Rare Disorders (NORD) is opening to the public videos of advocacy sessions from its forum. This previously exclusive, paid content is from…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Global Genes has opened its 8th annual RARE Compassion Program, an education initiative that connects medical students with rare disease patients and their families, including those with aromatic l-amino acid decarboxylase (AADC) deficiency. The program aims to fill training gaps across rare diseases to produce a more equitable…
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