Daniel H. Geschwind, M.D., Ph.D.
MIND Institute Distinguished Lecturer Series: October 13, 2004
Biography
Daniel H. Geschwind, M.D., Ph.D., is professor of neurology at UCLA, where he also directs the
Program in Neurogenetics and the Center for Autism Research and Treatment. Dr. Geschwind’s research
focuses on the genetic bases of human cognitive specializations and their relationships with disease
processes, such as autism and focal neurodegenerative syndromes, using molecular genetic and
neurobiological approaches. During the last 5 years, his research has increasingly emphasized autism and
working with the Autism Genetic Resource Exchange, a resource of publicly available biomaterials and
data for which he provides scientific oversight. Dr. Geschwind is a graduate of Dartmouth College and
the Yale University School of Medicine.
Presentation Abstracts
Molecular Genetics Studies of Autism: Endophenotypes and the challenges of heterogeneity (4PM)
Genetic and phenotypic heterogeneity provide significant challenges to positional cloning of autism
susceptibility genes. We have approached this problem by ascertaining large sample sizes and trying to
identify heritable endophenotypes that may be more directly related to genetic factors predisposing to
autism. One of our focuses has been language-related endophenotypes, since language is such a
fundamental human specialization. We have used quantitative trait methodologies to identify speech and
language related loci in a large autism cohort with some preliminary success. We have also begun to use
other quantitative methods, such as the social reciprocity scale (Constantino), to use QTL analysis
directed at other core autism-related features. We have also begun to explore large-scale association
studies focusing on candidate pathways, and dense SNP mapping under regions of linkage, so as to
identify the underlying mutational basis of autism.
Autism, Genes and the Environment (6PM)
Autism is the most heritable neuropsychiatric condition, but its genetic foundation is complex. Many
genes and the environment underlie autism susceptibility. How one uses genetics to understand a disease
like autism and how this can help us further understand complex environmental effects will be discussed.
The role of shared resources and large collaborations, such as the Autism Genetic Resource Exchange
will also be discussed.