This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Sunday, April 12, 2020

Genetic Variation across Phenotypic Severity of Autism

Autism is a broad-spectrum neurodevelopmental disorder that affects individuals to various degrees. Some with autism are high functioning, living independent lives while others suffer severe intellectual disability and require intensive care.  Despite massive research efforts, the etiology of autism is still poorly understood. The author of this paper, Genetic Variation across Phenotypic Severity of Autism, investigates the genetic factors associated with the varying degrees of the autism phenotypes. The latest evidence suggests a two-sided model. On one side are patients with more severe intellectual disability that are impacted to a greater degree by disrupting gene variants. On the other side are patients with high-functioning intellectual capacity that are impacted to a greater degree by common risk gene variants.

Impact of Different Classes of Genetic Variants on Phenotypic Severity in Autism




Elaine Miller – Trends in Genetics Post 4

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