Two new autism mouse models highlight gene dosage effects
Two new genetic mouse models that debuted this week show that having too many or too few copies of certain genetic regions leads to an array of symptoms reminiscent of autism.
Two new genetic mouse models that debuted this week show that having too many or too few copies of certain genetic regions leads to an array of symptoms reminiscent of autism.
Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.
Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.
Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.
Zebrafish share genes and pathways with humans, making them a useful tool to identify the genes that malfunction in autism, says expert Hazel Sive.
Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.
Wendy Chung planned to spend her career in a research lab, identifying rare pathologies. But life had other plans for her.
Children who express a subset of genes — including one located in the autism-associated chromosomal region 16p11.2 — at higher or lower levels than normal benefit from treatment with the antipsychotic drug risperidone, according to a study published 7 June in the Pharmacogenomics Journal.
The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.
Photographs that reveal minor physical abnormalities often seen in children with autism or other developmental disabilities could be useful as a first screen for autism, according to a study published 24 May in Autism.