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 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…
An eight-week, online mindfulness series for people with Fabry disease — aimed at relieving pain, reducing stress, and improving overall well-being — will open Sept. 29 and is currently enrolling participants. The Zoom series, which runs through Nov. 24, is presented by the MPS Society, which provides…
Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…
Two cases of Fabry disease, diagnosed decades after symptom onset, were identified for the first time in a Central Asian family, a case study reported. Further analysis revealed many affected family members, demonstrating the importance of examining the relatives of people diagnosed with Fabry, the…
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…
Avrobio’s ongoing FAB-GT Phase 2 clinical trial, testing its experimental gene therapy AVR-RD-01 in adolescents and adults with Fabry disease, is now open to female patients. The protocol amendment, implemented in August, allows girls and women with Fabry to participate in the trial, even though their symptoms…
Juvenile idiopathic arthritis or JIA, the most frequent chronic inflammatory arthritis disorder affecting children, may co-occur with Fabry disease, according to a study of children with JIA in Brazil. While early Fabry symptoms may resemble those of JIA — and may lead to misdiagnoses — in this study,…
The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
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