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 ...

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 ...

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

REC-4881 is an orally bioavailable, non-ATP-competitive allosteric small molecule MEK 1/2 inhibitor. The platform analyzed cellular models of APC gene loss—the root cause of FAP—to identify compounds ...

Nearly all patients with cyclic neutropenia have a mutation on the ELANE gene. The mutation is passed down in an autosomal dominant fashion, which means only one parent has to be affected to pass it ...