Pituitary adenoma risk factors included prior hyperparathyroidism, female sex, and non-missense pathogenic variants among patients with MEN1.

Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the ...

If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.

A new clinical trial suggests magnesium supplements may boost gut bacteria that help block the development of colon cancer – but only for some people, depending on their genes and sex. An increase in ...

Scientists have discovered that mutations in the EPG5 gene—known for causing the rare childhood disorder Vici syndrome—also increase the risk of Parkinson’s disease and dementia later in life.

The rate of acquisition of genomic changes in cancer has been the topic of much discussion, with several recent investigations finding evidence of punctuated evolution instead of gradual accumulation ...

The ACR recently issued the first formal international consensus guidance statement on diagnosing and managing VEXAS syndrome.

Several factors make ovarian cancer particularly challenging to treat. This is largely because the cancer often spreads at a ...

A study published in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a single drug, already licensed for medical use, can stabilize nearly all mutated ...

Why Adjuvant Treatment With a CDK4/6 Inhibitor Should Be Recommended for Women With High-Risk Breast Cancer: Methodologic Considerations on Available Evidence Antibody-drug conjugates (ADCs) are ...