News

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…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

A woman carrying specific gene variants placing her at increased risk of developing atypical hemolytic uremic syndrome (aHUS) was diagnosed with the disease following COVID-19 vaccination, as described in a recent case report. “Given the short time lapse between vaccination … and the clinical manifestations, we believe that vaccine…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…