Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

Julie Bowen, famed for Modern Family, faced a health scare at 29. She was diagnosed with sick sinus syndrome. Her sister ...

Superman syndrome, also known as 47, XYY, is a condition classified as a chromosomal aneuploidy (which is an abnormality in chromosome structure and/or number) in which males have an additional Y ...

More information: Max A. Thorwald et al. Down syndrome with Alzheimer's disease brains have increased iron and associated lipid peroxidation consistent with ferroptosis, Alzheimer's & Dementia (2025).

Due to the third copy of the APP gene, individuals with Down syndrome produce more amyloid-beta, increasing their risk of developing Alzheimer’s. By age 60, about half of individuals with Down ...

More information: Tsai-Yu Lin et al, Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome, Molecular Psychiatry (2025). DOI: 10.1038/s41380-025-03077-y ...

Legalisation of medical and recreational cannabis commerce is spreading around the world, associated with increased use1 and falling perception of the risk.2 Frequent cannabis use has increased in ...

Introduction Primary Sjögren’s syndrome (pSS) is a chronic, systemic autoimmune disease characterised by functional impairment of the lachrymal and salivary glands. The disease can result in systemic ...

OBJECTIVE To evaluate outcome in a cohort of Finnish patients with primary Sjögren's syndrome (pSS). METHODS Clinical and laboratory data from the time of diagnosis and follow up were collected from ...

In these two tests, a physician uses instruments to evaluate the muscles and nerves to see if they are carrying the signals from the spine to the arms properly. This test can evaluate several ...

Extreme emotional stress can cause a medical condition called broken heart syndrome. For decades, doctors thought it should mainly concern women — but that’s changing.