News

Mutations in the KDM1A gene are responsible for the development of a rare, food-dependent form of Cushing’s syndrome, according to a recent study. “In general, rare diseases are generally underdiagnosed in clinics,” Isabelle Bourdeau, MD, the study’s co-author, said in a press release. “By identifying this new gene, we…

An aggressive tumor in the brain’s pituitary gland, which caused severe Cushing’s disease, was successfully treated with rounds of radiation and chemotherapy with temozolomide, as described in a recent case report. The study, “ACTH secreting pituitary carcinoma: Rare, durable response to concurrent chemotherapy and re-irradiation with a review of…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

Cushing’s syndrome triggered by different causes can have similar effects on a person’s metabolism, or the set of chemical changes that take place in the body, a study suggests. The study, “Metabolic profile differences in ACTH-dependent and ACTH-independent Cushing syndrome,” was published in the journal Chronic Diseases…

At an upcoming conference offered by the University of Pennsylvania (Penn), experts will share the latest approaches and techniques for diagnosing and treating Cushing’s disease and other conditions caused by tumors in the pituitary gland. The “4th Pituitary Update” conference will run from 7:45 a.m. to 4 p.m. ET…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

A 43-year-old woman developed Cushing’s syndrome due to bilateral adrenal adenomas, or a tumor on each of her two adrenal glands, according to a recent case report. “Although Cushing’s syndrome due to bilateral adrenal adenoma is rare, it should be considered in mid-aged females with typical symptoms,” researchers wrote. The…

A woman developed Cushing’s disease years after she had received successful treatment for Cushing’s syndrome, as described in a recent case report. “Our case illustrates that both [forms of Cushing’s] may develop in a single individual even without evidence for a common genetic background,” its authors wrote. The study,…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…