We can all smile, but there’s one type of smile that shows genuine positive emotion and is nearly impossible to fake. The zygomaticus major muscle in the cheek pulls the lips upward while the orbicularis oculi around the eye activate, wrinkling the outside corners of the eyes. It’s true happiness…
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…
My family has had a hectic week. It started out lovely; the entire family, all nine of us, spent a beautiful, springlike day together at the zoo. By Sunday evening, however, we had kids with fevers, coughs, and runny noses. At last count, four of us have come down with…
Santhera Pharmaceuticals has entered into an agreement with SEAL Therapeutics, a spin-off of the Biozentrum of the University of Basel, that is expected to further develop a potential gene therapy for LAMA2-deficient congenital muscular dystrophy (LAMA2 MD). The new company’s gene therapy technology builds on previous research…
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…
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to ATA-100, a one-time gene therapy being developed by Atamyo Therapeutics for a specific form of limb-girdle muscular dystrophy (LGMD) called 2I or R9 (LGMD2I/R9). In Europe, the therapy also was named an orphan drug by…
Living with Duchenne muscular dystrophy has plenty of downsides, such as having to use a wheelchair and a BiPAP machine, dealing with fatigue, and wearing night splints, among other things. But if you’ve read my column for a while, you’ll know I like to look on the positive…
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 adjective “rare” refers to an event, situation, or condition not occurring very often, not found in large numbers, and consequently of interest. For example, Duchenne muscular dystrophy (DMD) is a rare disease affecting approximately 1 in 3,500 male births worldwide. Years ago, on one of the first…
The Muscular Dystrophy Association (MDA) has launched its 40th annual MDA Shamrocks fundraising campaign — one of the largest St. Patrick’s Day fundraisers in the U.S. — to raise money and to increase awareness of muscular dystrophy (MD) and related neuromuscular disorders. Throughout February and March, thousands…
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