Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Genetic variants believed to cause blindness in nearly everyone who carries them actually lead to vision loss less than 30% ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

This color-coded graphic shows different populations of cells in the mouse brain, each one targeted by one of the genetic tools developed by scientists at the Allen Institute and other institutions.

Scientists have found a way to restore brain cells impaired by a rare and life-threatening genetic disorder called Timothy syndrome. A type of drug known as an antisense oligonucleotide allowed ...

Experts say the research could reveal more about the role of genetics in autism and lead to more personalized care. A new study has identified four biologically distinct subtypes of autism, each with ...

Researchers have discovered a rare new type of diabetes that affects babies early in life. The condition is caused by changes ...

Gaucher disease is a rare genetic disorder that causes the buildup of fatty substances in certain organs. Type 1 is the most common type of Gaucher disease, but it’s the least severe and has the most ...