A new statistical framework could speed up the search for rare mutations that cause common diseases, helping researchers zero ...

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical similarities but have been largely viewed as genetically distinct. However, ...

A team led by LMU physician Daniel Kotlarz has identified a previously unknown genetic cause of Crohn's disease.

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 ...

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Researchers from The Hospital for Sick Children (SickKids) in Toronto have found a previously unknown genetic cause of ...

Genome-wide association studies identify genetic overlap among disorders, providing evidence that their distinctions may be misleading One major difference between psychiatric disorders and purely ...

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 ...

New research published in Alzheimer’s & Dementia provides evidence that genetic variations related to brain fluid movement ...