Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

New research uncovers over 1,300 genetic loci driving metabolic syndrome, revealing links to brain tissues and offering insights for tailored health strategies across populations. Study: Multivariate ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

Genetic factors that could contribute to people’s risk of developing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME), have been identified in a large study. Scientists ...

Ecuadorean doctor Jaime Guevara Aguirre, examines patients Maritza Valarezo (L) and her sister Lugartda, both with Laron syndrome, during a consultation in Quito, on January 11, 2014. Physician and ...

Mosaic Down syndrome has some cells with three copies of chromosome 21, and some with two instead of all three. Only about 1% to 2% of people with Down syndrome have mosaic Down syndrome. The severity ...

Could diagnosing rare genetic disorders one day be as simple as snapping a picture with a smartphone? That’s what a new study suggests. Researchers with the National Institutes of Health’s National ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings were published recently in ...