The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The Alabama Department of Public Health (ADPH) has announced that spinal muscular atrophy (SMA) is now among the list of disorders being routinely screened in newborns. Testing infants for the disorder began on Feb. 14, the ADPH stated in a press release.  SMA was added to the state’s newborn…
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…
A man with spinal muscular atrophy (SMA) type 2 in Japan who lived until his 60s was found after his death to have minimal damage in the brain but marked atrophy among the nerve cells of the spinal cord, an autopsy case report showed. “This report presents unique neuropathological…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
A group of healthcare professionals involved in the diagnosis and care of people with spinal muscular atrophy (SMA) in Scotland, and in research into the rare genetic condition, is calling for the addition of SMA to the list of diseases included in the country’s free newborn screening (NBS) program.
A research team in the U.S. has developed a new DNA reference, or benchmark, map with detailed sequence information on a number of genes, including SMN1 — the disease-causing gene in spinal muscular atrophy (SMA). Such information was missing from previous benchmark maps due to the genes’ intrinsic features.
The Scottish Medicines Consortium (SMC) has added oral Evrysdi (risdiplam) to the list of medications available through the country’s National Health Service (NHS) at low or no cost to eligible spinal muscular atrophy (SMA) patients, SMA UK announced. These include those 2 months and older diagnosed with SMA type…
Men with spinal and bulbar muscular atrophy (SBMA) were found to have abnormally small nerves in the limbs, especially the arms, as measured by ultrasound, a study showed. These findings support the use of ultrasound as an additional tool to identify SBMA and improve selection for genetic testing, the…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
