CELL BIOLOGY AND NEUROSCIENCE SEMINAR
“CONNECTING THE DOTS: TYING TOGETHER RARE DISEASE-CAUSING GENES”
Nearly 1 in 20 children are diagnosed with a neurodevelopmental disorder (NDD). Sequencing efforts have identified hundreds of genes whose loss-of-function will cause a NDD; despite knowing the genetic causes of many NDDs, we still lack targeted treatments for these disorders. The convergence of symptomology across NDDs suggests there may also be underlying molecular convergence across NDDs that drive brain dysfunction. We use the gene methyl-CpG-binding protein 2 (MECP2) as an exemplar gene whose genetic disruption causes two severe NDDs: Rett syndrome and MECP2 duplication syndrome (MDS). Studying the converging and diverging molecular pathways dysregulated in Rett and MDS revealed that MECP2 directly regulates growth-differentiation factor 11 (GDF11) in the brain; however, the role of GDF11, a TGF-beta ligand, in normal or abnormal brain development has not been deeply studied. Understanding how GDF11 functions is critical, as we discovered that mutations in GDF11 drive neurological dysfunction in patients. The Bajikar lab studies the interplay between genes that drive monogenic NDDs, like MECP2 and GDF11, to discover the underlying mechanisms that are broadly important for brain development in function and how these mechanisms go awry in NDDs.
Hosted By: Chloe Chung, PhD
Sameer Bajikar, PhD
Assistant Professor
Cell Biology and Biomedical Engineering
University of Virginia
Email:
Lab Website
RUTGERS–NEW BRUNSWICK
School of Arts and Sciences
Department of Cell Biology and Neuroscience