Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

Genes make us who we are—but are they shaped by chance, natural selection, or something else?

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

The team focused on over 70 common cancer-related genes and identified more than 3,400 unique mutations. This builds on prior research by Drs. Arbesman and Ni, which revealed that genetic ...

Aplastic anemia is a rare blood disorder in which patients cannot make enough blood cells. This life-threatening disease is a result of the immune system attacking blood stem cells. The condition has ...

An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic differences shape the way the human eye works. The breakthrough could help ...