MAR 15, 2018 1:30 PM PDT

Rare Inherited Mutations in Autism Spectrum Disorder

Presented at: Neuroscience 2018
Speaker

Abstract

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.


Show Resources
You May Also Like
SEP 14, 2021 7:00 AM PDT
C.E. CREDITS
SEP 14, 2021 7:00 AM PDT
Date: September 14, 2021 Time: 7am PDT, 10am EDT, 4pm CEST A conventional thermal cycler has long been a commodity product in the lab and end-point PCR techniques can be completed almost wit...
NOV 17, 2021 8:00 AM PST
C.E. CREDITS
NOV 17, 2021 8:00 AM PST
Date: November 17, 2021 Time: 8:00am (PDT), 11:00am (EDT) From waste disposal to promising biomarkers and therapeutic agents, exosomes and other extracellular vesicles are valuable in resear...
OCT 13, 2021 7:00 AM PDT
C.E. CREDITS
OCT 13, 2021 7:00 AM PDT
Date: October 13, 2021 Time: 7:00am (PDT), 10:00am (EDT) Western blot analysis is a method widely used in the lab today because of its versatility in detecting and measuring specific target...
OCT 14, 2021 9:00 AM PDT
C.E. CREDITS
OCT 14, 2021 9:00 AM PDT
Date: October 14, 2021 Time: 9:00am (PDT), 12:00pm (EDT), 5:00pm GMT Western blot analysis is a method widely used in the lab today because of its versatility in detecting and measuring spe...
SEP 29, 2021 11:00 AM PDT
C.E. CREDITS
SEP 29, 2021 11:00 AM PDT
Date: Septembr 29, 2021 Time: 11:00am (PDT), 2:00pm (EDT) 3D cell models are becoming increasingly popular for studying complex biological effects, tissue functionality, and diseases. While...
NOV 30, 2021 10:00 AM PST
C.E. CREDITS
NOV 30, 2021 10:00 AM PST
Date: November 30, 2021 Time: 10:00am (PDT), 1:00pm (EDT) The prevalence of thyroid disease worldwide has served as a catalyst for healthcare providers to study various tools and methods to...
MAR 15, 2018 1:30 PM PDT

Rare Inherited Mutations in Autism Spectrum Disorder

Presented at: Neuroscience 2018


Show Resources
Loading Comments...
Show Resources