Neurogenetics

Date/Time: Friday, October 9, 2020 - 3:30 PM – 5:30 PM
Track: Special Interest Group
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Description:

Many neurologic diseases have genetic underpinnings. These include rare diseases with monogenic inheritance or more common disorders associated with genetic risk factors. As the availability of genetic data moves into clinical care it will be essential for clinicians and researchers to understand and appropriately interpret the exponentially increasing genetic information. In this SIG, we will explore the breadth of genetic variation and efforts to understand how it relates to clinical care and therapeutic development.

Objective(s):

  • Appreciate the importance of sharing genetic variants through research and clinical collaboration.

  • Understand how to interpret variants of unknown significance on genetic test results.

  • Learn how high throughout cell based approaches can offer supportive evidence to genetic testing.

Speaker(s):

A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders


ADNC-RS, a Clinical-Genetic Risk Score, Predicts Alzheimer's Pathology in Autopsy-Confirmed Parkinson's Disease and Dementia with Lewy Bodies


Speaker(s):

ALS: Lessons from 10,000 Genomes


Cell Based Functional Screens to Resolve Genetic Variants


Speaker(s):

Genetic Testing and Research Collaboration