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That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

Now a study of 15 Finnish families, published in the Journal of Medical Genetics, provides the first proof that musical ability is indeed linked to genes.

Until very recently it was thought that just one bacterium was to blame for causing Lyme disease in humans. But it turns out that a second, related bug can cause it too.

Residents of the Solomon Islands in the Pacific have some of the darkest skin seen outside of Africa. They also have the highest occurrence of blond hair seen in any population outside of Europe. Now, researchers have found the single gene that explains these fair tresses.

Your ancestors' lousy childhoods or excellent adventures might change your personality, bequeathing anxiety or resilience by altering the epigenetic expressions of genes in the brain.

This biomarker, called the KRAS-variant, is linked to more cancers than any other known inherited genetic mutation. It is present in 1 out of every 4 people with cancer, and in more than half of people who develop multiple cancers. KRAS-variant carriers tend to get highly aggressive and recurrent breast, ovarian, head and neck, lung and pancreatic cancers.