Jun 21, 2024 · Assistive technologies. Advancements in technology have been a great help to people living with DMD, from enhancing accessibility with eye-tracking devices, smart eyeglasses, and sip-and-puff devices, to aiding communication and fostering social inclusion through voice recognition software.

Sep 12, 2024 · NS-050/NCNP-03 is an antisense oligonucleotide, a short strand of genetic material. The therapy skips over exon 50, an approach amenable for about 4% of the DMD population.According to NS Pharma, NS-050/NCNP-03 aims to enable production of a functional yet slightly shorter dystrophin protein, which is expected …

Dec 17, 2024 · “This landmark study presents compelling biomarker data and promising signals that suggest the potential for functional stabilization with administration of sevasemten,” Craig McDonald, MD, a principal trial investigator and professor at the University of California Davis, said in a company press release.. Edgewise scientists will join Parent Project Muscular Dystrophy to …

Sep 23, 2024 · At 40, I transitioned to a power wheelchair and purchased a van with a ramp and hand controls, which gave me the freedom to continue driving. Driving was a goal of mine, and figuring out how to do it while living with muscular dystrophy was secondary to that. I was determined not to let the disease dictate my path forward.

Jan 2, 2025 · Read the story here. No. 8 – PPMD conference highlighted DMD gene therapy and treatments. As part of our coverage of the 2024 Parent Project Muscular Dystrophy (PPMD) Annual Conference, we reported on a session discussing up-and-coming treatments, including gene therapies and approaches to regenerate muscle cells. As the DMD gene that is mutated in people with Duchenne is too big to fit ...

Jan 9, 2025 · Gene-editing therapy targets DYSF, whose mutations cause LGMD type 2B/R2. MD refers to a group of disorders characterized by progressively worsening muscle weakness and wasting due to mutations in genes encoding proteins important for muscle health.. Mutations in DYSF, which encodes the production of dysferlin, are the cause of LGMD type 2B/R2.Dysferlin is important for repairing muscle fiber ...

Dec 18, 2024 · Living with Duchenne muscular dystrophy (DMD) has involved a series of challenges and triumphs, each shaping the person I am today. As 2025 approaches, I’m reflecting on that journey as well as imagining the path ahead — especially since the coming year includes a significant milestone for me.

Oct 7, 2024 · In my four decades of life with limb-girdle muscular dystrophy, I’ve become comfortable educating everyone I meet about my quality of life and the ways all of us living with chronic, rare conditions have been given a wonderful chance to influence societal views of the disabled community. I’ve found it most effective to keep my talks age-appropriate.

Nov 19, 2024 · Gene therapies for MD. Muscular dystrophy refers to a group of diseases that cause progressive muscle weakness and wasting. DMD, the most common type of muscular dystrophy, is caused by mutations in the DMD gene that codes for dystrophin, a protein that helps to protect muscle cells from damage during movements. LGMD, characterized by muscle wasting at the shoulders and hips, may be caused by ...

Jan 30, 2025 · The 2025 MDA Legacy Award for Achievement in Clinical Research will be given to Katherine Mathews, MD, a researcher who has studied muscular dystrophy for decades, and is a “leader in genetic medicine and pediatric neurology,” the nonprofit announced.