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

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 ).

Autosomal dominant polycystic kidney disease rates in the Military Health System are comparable to the general population, ...

Germline mutations may be “dominant” or “recessive.” In autosomal dominant diseases, one parent has a normal copy of the gene and a mutated copy; there is a 50-50 chance a child will ...

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

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

Huntington described the autosomal dominant inheritance pattern of this ... all affected individuals would carry the same original mutation as the founder. Over a period of more than 20 years ...

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

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