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…

People with active Cushing’s disease have a smaller volume of gray matter — the outer layer of the brain extending into the spinal cord, where most nerve and other cells are found — and an unusual distribution of iron in the brain, a study reported. Importantly, abnormal iron redistribution…

The levels of a small number of microRNAs (miRNAs) — small RNA molecules that regulate the activity of other genes — are significantly different between tumors in the brain’s pituitary gland that cause Cushing’s disease and those not associated with the disease, a study shows. Notably, hsa-miR-124-3p, an miRNA…

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…

A “block-and-replace” regimen of corticosteroid therapy can be used to manage COVID-19 in people with Cushing’s disease, a new report highlights. The report, “COVID-19 and Cushing’s disease in a patient with ACTH-secreting pituitary carcinoma,” was published in the journal Endocrinology, Diabetes and Metabolism Case Reports.

People with Cushing’s disease have a high risk of being deficient in vitamin D, but taking supplements can improve those levels, a new study indicates. Results also showed that lower vitamin D levels are associated with higher levels of cortisol, a stress hormone that is elevated in Cushing’s. The…

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…

There are sets of microRNAs that may be used as markers for inherited or newly arising primary macronodular adrenal hyperplasia (PMAH), a rare cause of Cushing’s syndrome, a small study found. According to researchers, these microRNAs — short RNA molecules that help control the activity of certain genes — also…

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…