Mom Jasmin Matharun says hearing the diagnosis was an "utter shock," adding, "our world completely stopped" ...

The girl who ages too fast because of rare genetic condition ...

For decades, newborn screening has relied on a heel-prick blood test that identifies a limited number of serious conditions ...

Our parents' genes, even the ones we didn't inherit, leave a measurable lasting imprint on our lives. An international team ...

Substance use disorders (SUDs) are highly heritable, but the extent of shared and distinct genetic architecture across ...

A study led by researchers at King's College London and QIMR Berghofer Medical Research Institute has analyzed genetic data ...

A Kemmerer couple is on medical leave taking care of a newborn and their 7-year-old son who has a rare genetic condition that ...

More than half of U.S. states require health insurance plans to cover hearing aids for children, but California does not. One ...

Family celebrates daughter’s 5th birthday with fundraiser for rare genetic condition ...

Knowing your risk for certain types of cancer can help you determine how to better prevent it or catch it at an earlier stage ...

A new study reveals that white blood cells in people with depression show abnormal activity in genes usually associated with ...

The initiative, supported by FAPESP, aims to map genes associated with rare hereditary diseases to create “risk calculators” based on the diversity of the Brazilian population.