Alzforum webpages for each DIAN-TU-eligible variant now state “DIAN-TU eligibility: Yes” near the top of the page and an explanation under the Pathogenicity section (see, for example, PSEN1 M146V ).

Advancium Health Network, a public charity dedicated to advancing therapies for rare diseases, has awarded two major grants ...

Doctors at Huntsman Cancer Hospital removed the 36-year-old woman’s real stomach less than two weeks ago, a preventive ...

Researchers have developed a machine learning model that predicts Cas9 proteins that can be tailored with designer properties for therapeutic use.

Semaglutide promising alternative treatment for chronic myopathy of hyperkalemic periodic paralysis suggests a case report ...

Signs of Type 5 diabetes can vary depending on the subtype but usually include: Mild to moderate elevated blood glucose ...

An estimated 1 in 3,000 individuals may carry a genetic variant tied to pneumothorax and RCC—approximately 100 times more ...

Discover the symptoms, causes and treatments for hereditary angioedema, a rare genetic disorder causing severe swelling that ...

Tempest Therapeutics, Inc. (Nasdaq: TPST), a clinical-stage biotechnology company developing first-in-class1 targeted and ...

About ADPKD Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in the PKD1 or PKD2 genes, is among the most common human monogenic disorders and a leading cause of end-stage ...