The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
A new low-cost molecular test can accurately distinguish people with Angelman syndrome from those without the disease and those with other chromosome 15 imprinting disorders, a study shows. While the test cannot identify about 10% of Angelman cases, these findings highlight the feasibility of using it in newborn screening…
Neuren Pharmaceuticals has received regulatory approval in the U.S. and Australia to start its Phase 2 trial of NNZ-2591, an investigational therapy for Angelman syndrome. The study (NCT05011851), which is not yet recruiting, will include up to 20 children, ages 3 to 17, with a confirmed diagnosis…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
A new medical network connects Angelman syndrome (AS) and dup15q syndrome patients with specialized, high-quality care globally. The initiative, called the LADDER Learning Network, derives from a partnership between the Angelman Syndrome Foundation (ASF) and Dup15q Alliance. Angelman is caused by a missing or malfunctioning UBE3A…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
An international team of experts has published a comprehensive document detailing the current best strategies to care for people with Angelman syndrome. The document, “A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome,” was published in Molecular Genetics & Genomic Medicine. To…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
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