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More items for discussion

If you are itching for more reading on autism, Richard has contributed the following links:

The paper (first 8 pages especially) I tell everyone to start with for understanding autism is:

“Identification and Evaluation of Children with Autism Spectrum Disorders”

and this perspective piece:

Click to access nn1770.pdf

Mabel recommends:

The first work is a comparative analyses of primate genomes “suggest that the predisposing genomic architecture for most genomic disorders emerged during the past 25 million years.” In addition, “these specific molecular causes of complex diseases such as schizophrenia, epilepsy, intellectual disability and developmental delay are, in part, the result of relatively hominid-specific duplication architectures that emerged during the evolution of our species.”

Gene duplications

The second paper supports the idea that “human segmental duplications are hotspots for nonallelic homologous recombination leading to genomic disorders, copy-number polymorphism and gene and transcript innovations.”

Genome evolution

The third paper is about mechanisms “that influence the timing or location of phenotypic variation.”


The explanations in these papers could provide an alternative genomic/genetic framework for “genetic evidence of shared loci and pathways, mediating both autism and schizophrenia…”

autism & schizophrenia comparative genomics

Categories: 1

Joe Alcock

Emergency Physician, Educator, Researcher, interested in the microbiome, evolution, and medicine

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