Author Archives: Mary Chapman

The provincial government of British Columbia will cover the cost of Evrysdi (risdiplam), the oral spinal muscular atrophy (SMA) therapy approved by Health Canada in April for the at-home treatment of eligible patients age 2 months and older. Evrysdi’s annual costs are reported to be CA$93,456 (about $73,310) for…

Screening for spinal muscular atrophy (SMA), the leading genetic cause of infant death, is now available to 87% of all babies born in the United States, according to Cure SMA. The milestone was reached after Arizona and Louisiana began testing newborns for SMA this year, raising the number…

A University of Michigan (U-M) senior with spinal muscular atrophy (SMA) has won the school’s James T. Neubacher Award for his efforts to help make the campus — and everywhere else — more accessible to people with physical disabilities. Vincent Pinti, a political science major minoring in Spanish,…

Cure SMA and Cytokinetics have extended a partnership helping to heighten spinal muscular atrophy (SMA) education, awareness and fundraising, and t0 direct public policy in addressing community needs. To that end, the biopharmaceutical company will again be a National Gold Sponsor of some upcoming Cure SMA efforts…

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…

From a Zoom book discussion to candle lightings, efforts to mark Spinal Muscular Atrophy Awareness Month, observed each August, are underway to increase awareness of this rare genetic disease and raise funds to battle it. Supporters are involved in a range of activities that including swapping out their social…

To better understand and address barriers to the implementation of newborn screening across Canada for spinal muscular atrophy (SMA), Muscular Dystrophy Canada (MDC) has awarded more than $700,000 to projects in three provinces. This is the first round of awards to come from a collaboration between MDC…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…