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Neurodevelopmental Disorders: From Candidate Genes to Molecular Mechanisms


Instructor: Vann Bennett
Summary: This section will focus on autism, which is a neurodevelopmental disorder that has been the focus of many genome-wide studies searching for genes conferring increased risk. These studies have identified about 10 genes that are associated with autism with high probability as well as numerous genes (over 100) that are of lower probability. The era of gene hunting in this disorder is coming to a close, and the challenge for the future will be to identify cellular and molecular mechanisms. We will discuss the highlights of genome-wide screens as well as papers dealing with mechanisms potentially underlying autism. Students will benefit from basic knowledge in cell biology, biochemistry, and physiology.


This course will begin with efforts to define the genetic landscape of autism in human populations. To place these papers in context, it would be helpful to read the following articles reviewing current knowledge of the genetic basis for complex diseases.

1) Genes and non-mendelian diseases: dealing with complexity. Perspect Biol Med. 2014 Winter;57(1):118-31. doi: 10.1353/pbm.2014.0002. Jordan B.
2) Finding the missing heritability of complex diseases. Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. Manolio TA1, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM.