News

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…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

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…

Early diagnosis and treatment of Cushing’s disease could help prevent or diminish mental health crises, a recent report suggests. In the rare case study, a woman with a history of suicidal depression was found to have Cushing’s disease caused by a pituitary tumor in her brain. Her symptoms eased…

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…

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…