Translation of Disease-Targeted Therapies in Neurodevelopmental Disorders

This Kennedy Center Lecture on Development and Developmental Disabilities was presented on March 25, 2024. Held in partnership with the VUMC Pediatrics Research Conference.

Elizabeth Berry-Kravis, M.D., Ph.D., Co-Director, Molecular Diagnostics Section of the Genetic Laboratory; Professor, Department of Pediatrics, Rush University Medical Center

The explosion of neuroscience and molecular genetics research over the past decade has led to new opportunities to treat neurodevelopmental disorders with drugs targeting neural or genetic mechanisms of disease, as an alternative to standard supportive care. The translation effort from animal models to patients has not always proven straightforward with many problems to be solved. This lecture will discuss efforts in specific conditions to translate treatments from animal models including development of outcome measures and biomarkers as well as novel trial designs needed to bridge the translational chasm to bring this class of new treatments to humans with NDDs.

About the Speaker: Dr. Elizabeth Berry-Kravis' laboratory has a broad interest in an array of molecular techniques including experience with FMR1 DNA testing and methylation studies for both clinical diagnosis and prior research projects. Specifically, molecular-phenotype relationships in fragile X-associated disorders including relationships of phenotypes in fragile X syndrome and FXTAS to FMRP; FMR1 and ASFMR mRNA, methylation and activation ratios, and FMR1 repeat length and AGG location, as well as various other biomarkers of cellular function with FMR1 expansions.

Last Updated: 3/28/2024 12:32:16 PM

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