News

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…

The Cure Sanfilippo Foundation is encouraging the U.S. Food & Drug Administration (FDA) to consider Sanfilippo syndrome as a candidate for the agency’s accelerated approval pathway. According to a recent foundation-led study, families of Sanfilippo children are willing to accept modest treatment benefits even if they come…

A $3.4 million grant from the National Institutes of Health (NIH) will fund a new natural history study — an observational study that follows a group of people over time — for patients with Sanfilippo syndrome type D. The natural history study will be led by two Yale School…

An Austin, Texas, family is putting all their effort into raising $1 million to find a treatment for their 5-year-old son, Simon Croke, who was diagnosed with Sanfilippo syndrome type B nearly three years ago. His parents, Alina and Jeremy Croke, are leveraging their son’s semi-viral popularity —…

Scientists have discovered a potential novel approach to possibly correct the neurological features of Sanfilippo syndrome type B and other forms of the disease characterized by the accumulation of heparan sulfate and progressive neurodegeneration. Using a cellular model of Sanfilippo type B, the researchers found that clearing excess levels…

When 11-year-old Connor Ridley heard about another boy named Connor who wants to get into a potentially life-changing clinical trial, he decided to help. The other boy, Connor Dobbyn, is 13 and was diagnosed in 2019 with Sanfilippo syndrome, a neurodegenerative disease that renders the body unable to break…

From posting a photo of their child’s hand in theirs, to switching out their Facebook frame, supporters are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16. The aim is to heighten awareness of Sanfilippo syndrome, a genetic disorder that leads to a form of childhood dementia,…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

In their continued efforts to improve health equity for people with rare diseases, Global Genes and RARE-X have joined forces to help advocacy groups collect patient data and make the most of that information. “Patient data is perhaps the most valuable asset rare disease communities can leverage to…

Any child who experiences developmental delay or intellectual disability by age 18 should undergo genetic sequencing as a first- or second-line diagnostic test, according to new guidelines published by the American College of Medical Genetics and Genomics (ACMG). Such genetic sequencing also should be done for infants with congenital anomalies…