A 26-year-old man developed atypical hemolytic uremic syndrome (aHUS) triggered by a lung infection and caused by a previously unreported genetic mutation, a case study described. According to researchers, his case highlights the importance of genetic testing for a definitive diagnosis of inherited aHUS. The case study, “A…
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…
An 11-year-old boy with atypical hemolytic uremic syndrome (aHUS) became severely ill following infection with SARS-CoV-2, the virus that causes COVID-19, according to a recent case report. “Our study [shows] that severe SARS-COV-2 infection can be developed in pediatric patients with co-existing [aHUS],” the author wrote. The report, “…
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…
A newly identified mutation in the TSEN2 gene that causes craniofacial abnormalities, intellectual and developmental disabilities, as well as atypical hemolytic uremic syndrome (aHUS), was found in six children, a genetic study shows. Based on these observations, scientists proposed naming the new syndrome “TRACK” which stands for TSEN2-related atypical…
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…
Five children in India who developed or had a relapse of atypical hemolytic uremic syndrome (aHUS) in the summer of 2021 all appeared to have experienced mild COVID-19 infection, which is thought to have triggered the rare immune system disorder. Those are the findings of a recent report by…
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…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
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