News

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

Study Identifies Mutations Responsible for Food-induced Cushing’s

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…

Rare Pituitary Carcinoma Managed With Radiation, Chemotherapy

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…

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

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…

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

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.

New Data-sharing Program Aims to Speed Innovation in Rare Diseases

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…

Rare Case of Cushing’s Due to Tumors on Both Adrenal Glands

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…

Cushing’s Syndrome Treatment Preceded Cushing’s Disease Diagnosis

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,…