ResearchRSS3 days ago
Researchers found that a simple electrical test using surface electrodes on the skin can measure nerve signals in people with spinal muscular atrophy (SMA). These signals were much weaker in SMA patients compared to healthy people, which suggests this test could be a useful way to track how the disease changes over time.
WHY IT MATTERSIf validated, this non-invasive surface electrode test could provide a faster, easier, and cheaper way to monitor SMA progression in clinical trials and patient care compared to current muscle strength assessments.
NewsUNITERARE4 days ago
The PAN Foundation's financial assistance program for people with Spinal Muscular Atrophy (SMA) is currently closed and not accepting new applications. The PAN Foundation helps patients pay for medications and treatment costs when they can't afford them. You can check the program website to see when it reopens or find other financial help options.
WHY IT MATTERSIf you have SMA and struggle to afford your treatment, knowing this fund is temporarily closed helps you explore alternative financial assistance programs before your medication runs out.
Clinical trialCLINICALTRIALS4 days ago
Williams syndrome is a rare genetic condition that affects about 1 in every 8,000 to 12,000 people. It happens when a person is missing a small section of DNA on chromosome 7, which includes the gene that makes elastin (a protein that helps blood vessels stretch). This causes distinctive facial features and heart and blood vessel problems. Researchers are now recruiting 1,099 people with Williams syndrome or a related heart condition called supravalvular aortic stenosis to donate DNA and tissue samples to help scientists better understand these conditions.
WHY IT MATTERSThis actively recruiting biobank offers Williams syndrome and SVAS patients a direct way to contribute DNA and tissue samples to NHLBI-sponsored research that could accelerate understanding of the genetic causes and lead to new treatments.
ResearchBIORXIV5 days ago
Researchers studied blood samples from children with dengue virus infection to find early warning signs that could predict who will develop severe disease. By analyzing proteins in the blood, they identified markers related to inflammation and blood vessel damage that appear in children who get sicker. This discovery could help doctors quickly identify which children need more intensive care.
WHY IT MATTERSIf validated, these protein markers could enable doctors to predict dengue severity within hours of diagnosis in children, allowing earlier intervention before complications like hemorrhagic fever or shock develop.