Critical Path Institute (C-Path) is thrilled to announce its Polycystic Kidney Disease Outcomes Consortium (PKDOC) has been awarded an Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) ...

Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal co-dominant monogenic disorder characterized by lifelong low plasma levels of total ...

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an ...

Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We report the case of a female newborn, born to second-degree consanguineous ...

Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...