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What is the Center for Neurogenetics?
How do patients come to the Center?
Example of patient diagnosis
The Importance of Collaboration Between Patients and Scientists
Genetic Risk Factors for Multiple Sclerosis
Computational Genomics
Clinical Impact
What are the benefits of using patient-derived neurons?
Precision Medicine
Costantino ladecola, M.D. Director, Feil Family Brain & Mind Research Institute
M. Elizabeth Ross, M.D., Ph.D. Director, Center for Neurogenetics
Barry Kosofsky, M.D., Ph.D Head, Pediatric Neurology
Matthew E. Fink, M.D. Chair, Neurology
Christopher Cunniff, M.D. Head, Pediatric Medical Genetics
Shenela Lakhani, M.Sc. Program Manager and Certified Genetic Counselor
The first "golden age" in the study of neurodegenerative disease
Repeat Expansion Diseases
Four types of repeat diseases are now recognized
N171-82Q mouse model of Huntington's disease
HD mice develop severe hypothermia
HD Brown Fat Morphology (H&E stain)
RT-PCR validation of human data
SCA7 patients show Bergmann glia pathology
Gfa2-SCA7-92Q mice display Purkinje cell degeneration
Future Directions
Learning Objectives
Scenarios Where Genetic Counseling May Be an Important Consideration
What a Genetic Counselor Is Not
The Genetic Counseling Process
Core Values of Genetic Counseling or Philosophy
Genetics of the Dmd Gene
The Reading Frame of the Dmd Gene
Carrier Status for Wilson Disease
What Wilson Disease Is
Reproductive Counseling