News

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

[Editor’s Note: This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with an Indiana man who began…

[Editor’s Note:  This is part of a series of articles about the discovery and development of Evrysdi — the newly approved disease-modifying therapy for spinal muscular atrophy and the first oral, at-home one — as well as the scope of SMA issues and treatments. Here, we talk with…

Although both Evrysidi (risdiplam) and Spinraza (nusinersen) work to correct the same issue in spinal muscular atrophy (SMA), they do so through different mechanisms. SMA is caused by mutations in the SMN1 gene, preventing the production of…

[Editor’s Note: This is one in a series of articles about the discovery and development of Evrysdi, the newly approved disease-modifying therapy for spinal muscular atrophy (SMA), as well as the scope of SMA issues and treatments. Here, we spoke with leaders at PTC Therapeutics about the expertise,…

[Editor’s Note: This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral, at-home one, as well as the scope of SMA issues and treatments. Here, we talk with the family of a young boy…

From candlelighting events to storytelling, efforts to mark Spinal Muscular Atrophy Awareness Month, observed each August, are underway to heighten awareness of the rare genetic disease and raise funds to fight it. Supporters are participating in a range of activities such as changing their social media profile photo, sharing…

[Editor’s Note: This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with the chief of the SMA…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

[Editor’s Note:  This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with scientists about how this…