In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
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Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Across the U.S., 20 states are now screening newborns for Pompe, the most recent neuromuscular disease added to a list of serious genetic disorders for which infants can be tested shortly after birth, advocacy officers at the Muscular Dystrophy Association (MDA) said. Washington is the latest to…
Sanofi Genzyme’s next-generation enzyme replacement therapy (ERT), avalglucosidase alfa, safely halts disease progression in people with Pompe disease, according to interim data from two Phase 2 clinical trials. The trial’s results were the focus of oral and poster presentations at the 16th Annual WORLDSymposium, held…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
Expecting to award roughly $18 million this year in grants to support research in neuromuscular diseases, the Muscular Dystrophy Association (MDA) continues to be a leader in efforts to better treat and otherwise ease life for those touched by Pompe disease as well as muscular dystrophy, and…
Gene therapies — after a tragedy kicked them back to the lab two decades ago — are beginning to come into their own, making possible the progress in gene-targeted and combination treatments for neuromuscular diseases once thought unimaginable. But many challenges remain — from the likelihood of no “one and…