Treatment with two distinct molecules targeting the “backup” SMN2 gene resulted in higher levels of SMN — the protein lacking in spinal muscular atrophy (SMA) — and longer survival in a mouse model of type 1 disease relative to the use of a single therapy. Notably, these benefits, which included the…
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The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…
People of Indigenous descent in Canada seem to have the highest prevalence of spinal and bulbar muscular atrophy (SBMA) of any populations in the world, according to a new study. Compared to an SBMA prevalence of one to two per 100,000 in the general population, it’s 14.7 per 100,000 people…
Mothers of children and adolescents with spinal muscular atrophy (SMA) want to find ways to improve the quality of life of their children and families, a questionnaire-based study reports. “The results of this research … could help specialists in providing psychological support for families of SMA children and/or adolescents,”…
Steven Spohn, who has spinal muscular atrophy (SMA), has reached his goal of raising $1 million for his fledgling initiative for disabled gamers, “SpawnTogether.” The funding, which came through donations, will go toward gaming equipment and consultation for The AbleGamers Charity, a nonprofit organization that seeks to make…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
Difficulties with biting and fatigue while chewing are common among patients with type 2 and type 3 spinal muscular atrophy (SMA) who are unable to walk unassisted, a Dutch study reports. The findings highlight the need for interventions to help maintain muscle strength in the jaw of these patients…
People with spinal muscular atrophy (SMA) are living longer, attending college, pursuing a variety of careers, and traveling more, thanks to a combination of new disease-modifying therapies, better quality care, and improved rights for those with disabilities. It also means they now are encountering unique sets of challenges in…
Despite being mostly unaware of spinal muscular atrophy (SMA), most Japanese parents support newborn screening for the disease, according to data from a small survey-based study. The most cited reasons behind this support included the importance of early diagnosis and the fact that treatments are available. These findings add…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
