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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…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

A clinical trial extension study involving 12 children with Sanfilippo syndrome type A was terminated early, after efficacy analyses found that the investigational enzyme replacement therapy it was testing failed to show evidence that it could slow the patients’ progressive cognitive or neurological impairment. After a median of 264.4 weeks…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…