Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

University of Queensland researchers have discovered a mechanism in DNA that regulates how disease-causing mutations are inherited. Dr. Anne Hahn and Associate Professor Steven Zuryn from UQ's ...

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked. A new study takes a deep dive into inherited cancer mutations ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

Familial Alzheimer’s disease is a rare, inherited form of Alzheimer’s that usually develops earlier than other forms of the disease. It’s due to specific genetic variants that tend to run in families.

Clinical and economic value of comprehensive genomic profiling in patients with advanced solid cancers using Australian real-world data: Preliminary analyses. This is an ASCO Meeting Abstract from the ...

The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk. The prothrombin gene plays a crucial ...

Colorectal cancer is often linked to lifestyle, but inherited gene mutations can also raise risk. Hereditary conditions like Lynch syndrome and familial adenomatous polyposis (FAP) can lead to ...