News

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…

Cannabinoid medications, those derived from cannabis, improve overall well-being and ease perceptions of pain and itchiness, more than 90% of epidermolysis bullosa (EB) patients who responded to a global survey reported. About 80% also reported taking fewer opioids, or stopping opioid use, to help with disease symptoms after starting on…

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…

Malnutrition, both moderate and severe, is fairly common among children with epidermolysis bullosa (EB) living in India, a study suggests. A child’s degree of malnutrition also correlated with disease severity, its researchers reported. A personalized diet followed for six months significantly improved patients’ nutritional status, particularly among children with dystrophic…

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…

With the new school year launching, the Dystrophic Epidermolysis Bullosa Research Association of America — better known as debra of America — is aiming to facilitate conversation and collaboration between families of children with epidermolysis bullosa (EB) and their teachers and classmates. To that end, debra is providing…

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…

Dominant dystrophic epidermolysis bullosa (DEB) may lead to congenital deformities such as disproportionately short great (big) toes, according to a case report. In this rare case, the newborn also lacked skin in the lower part of both legs (a more common symptom of DEB), and with appropriate treatment his wounds…

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…

Eloxx Pharmaceuticals announced ZKN-013 as its lead oral treatment candidate for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) caused by nonsense mutations in the COL7A1 gene. Preclinical safety and toxicology studies, required to secure U.S. Food and Drug Administration (FDA) approval for clinical trials of ZKN-013, are…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

Three new mutations in the COL7A1 gene and five very rare variants were identified for the first time in children with recessive dystrophic epidermolysis bullosa (DEB) in Vietnam, a study reported. These findings expand “the spectrum of COL7A1 mutations” and may have implications for the genetic counseling of patients…