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 ...

In a genetic association study, investigators integrated data from genome-wide association studies of various disorders with retinal transcriptomic data. Findings revealed that the polygenic risk of ...

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 ...

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By ...

Gretchen Noah waited 2½ years for doctors to make the diagnosis she knew in her heart for months. Her son, Markie, now 3, has Smith-Lemli-Opitz Syndrome, a genetic disorder caused by insufficient ...

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated ...

Chennai: The Institute of Child Health (ICH) has seen a sharp rise in cases of genetic disorders since its launch in 2022, ...

For many years, autism has been identified as a spectrum with differing levels of ability. New research suggests that the age ...

Musculoskeletal disorders affect the bones, joints, muscles, and connective tissue. Many musculoskeletal disorders may occur in children, and some types are more common than others. Musculoskeletal ...