The definition of a “rare” disease is based on how often they occur in the population not by whether or not there is a ...

The development of many psychiatric disorders, including depression, schizophrenia and bipolar disorder, is known to be in great part influenced by genetics. Past research has identified various genes ...

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 ...

Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. The study reveals that during DNA repair, segments ...

In India, rare diseases are not so rare. It is estimated that around 70 million Indians live with one of more than 7,000 rare ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

— The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...

A new study by researchers at King's College London has split schizophrenia risk into two genetically distinct pathways. One ...

General introduction to the estimation of genetic risks -- Mendelian risk -- Risk modified by reproductive history -- Risk based upon phenotype -- Risk based upon genotype -- Familial versus new ...