Feb. 28 is Rare Disease Day and Channel 9 is spotlighting a local family working to shed light on rare diseases all year long.

Chronic fatigue syndrome — also known as myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) OR systemic exertional intolerance disease (SEID)— is a serious, chronic illness that can ...

Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of ...

Macular telangiectasia, sometimes referred to as idiopathic juxtafoveal macular telangiectasia, is a disease that affects the part of the eye called the macula, causing degradation or loss of central ...

About SCA3 Spinocerebellar ataxia type 3 (SCA3) is a rare neuromuscular disease with a prevalence of one to five in 100,000 people. It is the most common form of spinocerebellar ataxia.

Objective or purpose: To investigate an ensemble-based approach utilizing deep learning models for accurate and interpretable detection of Macular Telangiectasia Type 2 (MacTel) on optical coherence ...

Yossi Shiloh has been researching the origins of a rare, crippling childhood disease, ataxia-telangiectasia. Children with A-T suffer frequent infections and lung problems, and are usually ...