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…
A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…
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…
Seeking to reduce the average 10–12 year wait time for the diagnosis of a hypermobility spectrum disorder, the Ehlers-Danlos Society has created the Center of Excellence program to better educate both patients and physicians about these diseases. The goal is to assist people with Ehlers-Danlos syndrome (EDS)…
A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…
Aytu BioPharma has formed its new scientific advisory board, which will work toward advancing the global development of AR101 (enzastaurin), an antitumor agent with the potential to treat vascular Ehlers–Danlos syndrome (vEDS). There currently are no approved treatments for vEDS, characterized by thin, translucent skin that is easily bruised, and…
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…
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…
“A correct diagnosis of [classical Ehlers-Danlos syndrome or] cEDS is not always straightforward,” researchers in Belgium concluded in a new study, in which the scientists urged that anyone suspected of having this type of the rare connective tissue disorder undergo a complete clinical examination, followed by genetic testing. Such testing…
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