Families with rare gene mutations that cause Alzheimer's in middle age are giving scientists a unique window on the disease, ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

Correlation does not equal causation. Every cancer cell has genetic mutations, but not all of those mutations necessarily ...

The donor's sperm carried a mutation that causes Li-Fraumeni syndrome or LFS, one of the most severe inherited cancer predisposition syndromes. A recent case in Europe has reignited debate over the ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth. By testing every possible mutation in a critical hotspot, they found that ...