Motor symptoms have a substantial negative impact on the life quality of people with AADC deficiency and their caregivers, a new study involving interviews with more than a dozen parents and other caregivers reports. This finding highlights a need for therapies that can ease motor dysfunction in AADC deficiency,…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
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…
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