Genomics and Precision Medicine

Prof. Karen B. Avraham

Genetics and epigenetics for human disease

Hearing loss is a leading cause of disability worldwide, with an estimated 466 million people suffering from this debilitating loss. Prof. Avraham’s goal is to determine the genetic basis of hearing loss and use genome editing to create models to study the mechanisms of auditory function. Gene therapy is being conducted on these models for human hearing loss. Regulatory mechanisms are being discovered at the level of non-coding RNA and methylation. The team’s work has demonstrated https://www.kbalab.com/ that genomic sequencing using high-throughput technologies is effective for genetic diagnoses in a diverse population, providing a guideline for precision medicine for hearing loss in Israel. GRIN2D mutations are associated with epileptic encephalopathy. Avraham and her team study the mechanism of this NMDA receptor and develop mouse models, towards drug therapy.

Prof. Avraham, PhD, is Dean at the Faculty of Medicine at Tel Aviv University and holds the Drs. Sarah and Felix Dumont Chair for Research of Hearing Disorders. She is a member of the Department of Human Molecular Genetics and Biochemistry, the Sagol School of Neuroscience and the Safra Center for Bioinformatics. Avraham was recently awarded the Israel Science Foundation Breakthrough Research Grant. She is founder and was co-director of the Aufzien Family Center for the Prevention and Treatment of Parkinson’s Disease and the Healthy Longevity Research Center. Prof. Avraham founded and directs the MSc program in Medical Sciences with a specialty in Genetic Counseling.