News

The mean total annual costs of raising a child with Prader-Willi Syndrome (PWS) — an estimate that takes into account services use, impact on parental income, and care arrangements — is more than AU$57,500 (about $42,500) per child, according to an Australian study of four rare disorders that cause…

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…

An $11.2-million, five-year grant has been awarded by the Centers of Excellence in Genomic Science of the National Institutes of Health (NIH) to uncover high-resolution details of the entire human genome. This project should help better understand the genome’s structure and function, as well as provide important clues about the…

Vision problems such as lazy eye, farsightedness, and strabismus — when the eyes don’t line up in the same direction — are more common in people with Prader-Willi syndrome (PWS) than among their healthy peers, a study shows. These findings, along with data showing that vision problems may negatively affect…

Children and adults with Prader-Willi syndrome (PWS) are not at higher risk of developing a severe COVID-19 infection, according to results from a survey involving more than 500 patients in France. These findings were particularly surprising in terms of the adult population, which typically has several known risk factors for severe…

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…

Pitolisant, a treatment for narcolepsy, should be considered for people with Prader-Willi syndrome (PWS) whose response to psychotropic medications is less than optimal, a case report of a 15-year-old patient suggests. “Pitolisant has the potential to improve many symptoms in patients with Prader-Willi syndrome and it appears to be…

The hunger hormone ghrelin, when measured in infancy, may be a biomarker for predicting the early onset of scoliosis — a sideways curvature of the spine that looks like the letter C or S — in children with Prader-Willi syndrome (PWS), a study suggested. Beginning in early infancy,…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…