Genetics

A 2024 study led by QIMR Berghofer Medical Research Institute and published in Nature Communications identified roughly 7,000 DNA changes linked to depression across both sexes and approximately 6,000 additional genetic variations unique to women, totaling about 13,000 DNA changes associated with depression.

A 2024 genetic analysis reported that genetic factors appear to contribute more to depression risk in women than in men, with nearly twice as many depression-linked genetic signals identified in women compared with men.

A 2024 study found that depression-related genetic variants identified in women show stronger overlap with genetic signals linked to metabolic traits compared with those identified in men, suggesting a genetic connection between depression in women and metabolic symptoms such as weight change or altered energy.

A 2001 discovery by Mary E. Brunkow and Fred Ramsdell identified a mutation in the Foxp3 gene that is associated with a rare human autoimmune disease.

Huntington's disease is a rare, inherited neurodegenerative disorder caused by a mutation in the HTT gene that leads to production of an abnormal huntingtin protein which progressively damages neurons in the brain.

More than 350 distinct genetic variants in mitochondrial DNA or in nuclear DNA that encodes mitochondrial proteins can trigger mitochondrial diseases.

Individuals with the same genetic mitochondrial defect can exhibit widely variable symptoms, disease severity, and ages of onset.

A mitochondrial disease–causing mutation in a gene required for mitochondrial protein synthesis affects about 50,000 people across the United States, Europe, and Japan.