With current corticosteroid use, people with Duchenne muscular dystrophy (DMD) typically lose their walking ability by their early teens, often need ventilation by their late teens, and usually survive until the third or fourth decade of life, according to a review study into the clinical course of DMD today.
I stood behind my father in uncomfortable silence. The summer had come to a close, and another school year was preparing for takeoff. I didn’t want to make eye contact, because it was easier for me to let my dad handle the situation, and all would be well. However, I…
How would you respond if I asked, “Who are you?” While the question may seem simple, it is deceptively complex. A college professor of mine once asked the class this question. As students took turns answering to the best of their ability, the professor offered rebuttals replete with “what ifs.”…
High levels of the toxic RNA molecule associated with myotonic dystrophy type 1 (DM1) lead to defects in muscle regeneration and in the number of muscle stem cells — or satellite cells — and promotes muscle fibrosis (scarring) upon injury, according to a study in a mouse model of DM1.
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
Transitions are a part of life. We go through puberty as teenagers and our bodies change. We move out of our parents’ place to go to college or start a new job. We get older, some of us have kids, and our perspectives change. When…
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000 in grants, totaling…
Top-line data from the VISION-DMD Phase 2b clinical trial evaluating vamorolone in boys with Duchenne muscular dystrophy (DMD), showed efficacy across primary and secondary study goals. The investigational therapy was also well-tolerated with a…
A CRISPR-Cas9-based gene editing therapy promoted the production of a smaller but functional version of the dystrophin protein in a new mixed mouse model that uses muscle cells derived from Duchenne muscular dystrophy (DMD) patients. The therapy is designed to delete a DMD gene region that is commonly mutated in people…
Last week, I took my 2-year-old son, Alfie, for a walk-through at a local preschool. We are checking out all of the preschools in our area so we can find the best fit for Alfie when he turns 3 and is able to go. I was…
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