People with the rare Li-Fraumeni syndrome (LFS) have a high risk of developing cancer. Almost all those affected will develop ...

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 ...

Patients with Marfan syndrome (MFS) are at a high risk of type B aortic dissection (TBAD). Aortic growth and elongation have been suggested as risk factors for TBAD. Vascular deformation mapping is an ...

Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...

Mizuguchi T; Collod-Beroud G; Akiyama T; Abifadel M; Harada N; Morisaki T; Allard D; Varret M; Claustres M; Morisaki H; Ihara M; Kinoshita A; Yoshiura K; Junien C ...

In a small study, patients with the syndrome were more likely to experience reactivation of Epstein-Barr virus and high levels of a coronavirus protein. By Apoorva Mandavilli The Covid-19 vaccines ...

These findings set the stage for the current studies, which provide the first molecular pictures of KBTBD4 targeting the CoREST complex through interactions induced by both cancer mutations and a ...

Brugada syndrome is an inherited cardiac channelopathy arising from mutations in voltage-gated cardiac sodium channels. Idiopathic epilepsy portrays a coalescent underlying pathophysiological ...

Background: Recent echocardiography studies in inherited long QT syndrome (LQTS) have shown left ventricular ... sequence during exercise and their relationship to symptoms in LQTS mutation carriers.

It was set up by family and friends of the McGrath family from Kilmacow who are directly affected by Marfan Syndrome. The Marfan’s Research Foundation was set up to raise funds for research on the ...