Viewpoint

Individuals who have autism and dysmorphology comprise a distinct subgroup within the disorder, says geneticist Judith Miles. 

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.

Impairments in vision, even if they don’t cause autism, are likely to be manifestations of underlying neural abnormalities, says Pawan Sinha, professor of vision and founder of the humanitarian organization Project Prakash.  

Zebrafish share genes and pathways with humans, making them a useful tool to identify the genes that malfunction in autism, says expert Hazel Sive.

Including more females in autism research studies will aid the search for genetic and environmental susceptibility factors for the disorder, says genetic psychiatrist Lauren Weiss.

The study of any genetic disorder benefits from including the many diverse human populations in our world, and autism should be no different, says geneticist Christopher Walsh.

Deletions or duplications of the UBE3A gene lead to both Angelman syndrome and some cases of autism, respectively. Studying the effects of altered gene dosage in this region will provide insights into brain defects and suggest targets for therapies for both disorders, says expert Benjamin Philpot.

Studying the infant siblings of children who have autism to identify early signs of the disorder is expected to have enormous impact on the field from a clinical and a basic science standpoint, says psychologist Karen Dobkins.

Several targeted trials on drugs that treat fragile X syndrome are under way. But accurate endpoints to measure the drugs’ effectiveness are crucial, argues developmental and behavioral pediatrician Randi Hagerman.

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.