Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been very difficult to identify the underlying disease genes. The major obstacles to gene discovery in ASD are the extreme diversity in the clinical symptoms of patients as well as the complex genetic makeup of the disorder. Next-generation sequencing technologies have allowed for recent strides in the genetics of ASD, while the molecular mechanisms underlying disease pathogenesis have remained elusive hindering therapy development. The field has been heavily focused on the role of spontaneous genetic changes that are not inherited from parents. However, these spontaneous mutations account for only ~30% of ASD cases, and cannot explain why ASD is highly heritable in humans. My talk will provide an overview of current areas of emphasis in ASD research spanning genomics and genetics, focusing on how we can leverage shared ancestry to identify recessively inherited ASD mutations. I will also discuss one specific example of a neurodevelopmental disease gene with recessive mutations, UBE3B, that functions in protein turnover and the molecular mechanisms underlying disease in this example.
Research And Development
Clinical Laboratory Scientist17%
Medical Laboratory Technician17%
Manufacturer - Other17%