News

Hormone-producing Intestinal Tumor Causes Rare Cushing’s Case

In a rare case, a hormone-producing intestinal tumor led to the development of ectopic Cushing’s syndrome in a 50-year-old man, according to a recent report. The patient’s high cortisol levels — a hallmark of hypercortisolism — normalized after he underwent surgery to remove both adrenal glands, which are responsible for…

Rare Disease Groups in US Join in Plea for Care Across State Lines

Over 230 national organizations signed a letter urging all 50 U.S. state governors to “maintain and expand” flexibility with licensure requirements for the duration of the COVID-19 pandemic to ease access to care. During the pandemic, governors used emergency authority to waive certain state licensure requirements, giving healthcare providers…

Metyrapone Safely Treats Cushing’s Disease in Pregnant Woman

Cushing’s disease was successfully treated using metyrapone in a pregnant women with no harm to the unborn baby, a case-report found. The report, “Cushing Disease Treated Successfully with Metyrapone During Pregnancy,” was published in the journal AACE Clinical Case Reports. Cushing’s syndrome is characterized by excessive levels of…

Rare Bone Tumor Led to Cushing’s Syndrome in Child

A recent report described the rare case of 9-year old girl who developed Cushing’s syndrome due to a hormone-producing Ewing sarcoma, a rare type of tumor that arises in bones or in its surrounding soft tissues. This case, according to the report’s authors, highlights the diagnostic challenges in identifying and…

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…