Wilson’s disease is an autosomal recessive disorder caused by ATP7B mutations, leading to copper accumulation in the liver, ...

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 ...

Emerging genetic therapies targeting Autosomal Recessive Congenital Ichthyoses (ARCI) present promising market opportunities due to unmet needs and rising prevalence. Improved diagnostics and ...

AstraZeneca ($AZN) announced an update on their ongoing clinical study. Study Overview: AstraZeneca is conducting a Phase I study titled ‘A Phase ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

Huntington's disease is a rare, inherited disease that causes the progressive breakdown of nerve cells in different regions of the brain, resulting in movement, cognitive, and psychiatric disorders.

Phenylketonuria (PKU) is an autosomal recessive disorder that results in decreased metabolism of the amino acid phenylalanine ...