The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Human brains are built to grow for years, yet for some children that growth is cut short, leaving them with smaller heads, developmental delays and lifelong disability. Scientists are now closing in ...

Earlier this year, Health and Human Services Secretary Robert F. Kennedy Jr. pledged that the search for autism's cause—a ...

A sperm donor with a dangerous genetic mutation linked to cancer has fathered at least 197 children. Investigation revealed 23 children carry the mutation, with ten having developed cancer.

With a rate of mutation 35 percent higher than random chance, this previously unknown weakness could be a major vector for ...

Norrie Disease is an ultra-rare genetic disorder causing congenital blindness, progressive hearing loss and neurological challenges. One Indian mother's journey reveals how misunderstood the condition ...

“The TP53 mutation (pathogenic variant) was not present throughout the donor’s body tissues, meaning he had not inherited it. The mutation would appear to have arisen in the testes but to have ...

A genetic mutation that carries a 90% cancer risk has been passed on by an unwitting sperm donor to dozens of children, a ...

A team of researchers at the Icahn School of Medicine at Mount Sinai has uncovered why children with the same leukemia-causing gene mutation can have dramatically different outcomes: it depends on ...