Prof. Karen B. Avraham
Research work
Genetic diseases impact a significant portion of the population. We study both sensorineural hearing loss, developmental delay and epilepsy, all of which have a genetic component. Our overall goal is to determine the molecular basis for these diseases, understand the mechanisms and develop therapies. We use genome editing to create models for deafness and epileptic encephalopathy
Gene therapy is being conducted on these models. Regulatory mechanisms are being discovered at the level of non-coding RNA and methylation. Our work has demonstrated that genomic sequencing using high-throughput technologies is effective for genetic diagnoses in a diverse population, providing a guideline for precision medicine
Areas of interest & scientific knowledge
Neurodevelopment and Neurogenetic Research
Selected Publications
- 3. Brownstein Z, Gulsuner S, Walsh T, Arrojo Martins FT, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Örn Arnþórsson AO, Sokolov M, Gilony D, Lipschitz N, Moshe Frydman M, Bella Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samara N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan M, Allon-Shalev S, King M-C, Avraham KB. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. bioRxiv doi: 10.1101/2020.06.11.144790. Clin Genet, in revision.
- Yizhar-Barnea, O., Valensisi, C., Doni-Jayavelu, N., Kishore, K., Andrus, C., Koffler-Brill, T., Ushakov, K., Perl, K., Noy, Y., Bhonker, Y., Pelizzola, M., Hawkins, R.D., Avraham, K.B. (2018) DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium. Sci. Rep. 8:17348
- Ushakov, K., Koffler-Brill, T., Rom, A., Perl, K., Ulitsky, I., Avraham, K.B. (2017) Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems. Sci. Rep., 7:8637
- Bhonker, Y, Abu-Rayyan, A, Ushakov, U, Amir-Zilberstein, A, Shivatzki, S, Yizhar-Barnea, O, Elkan-Miller, T, Tayeb-Fligelman, E, Kim, S.M., Landau, M., Kanaan, M., Chen, P., Matsuzaki, F., Sprinzak, D. and Avraham, K.B. (2015) The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm. Genome, 27:29-46. PMID: 26662512. Bhonker, Y, Abu-Rayyan, A, Ushakov, U, Amir-Zilberstein, A, Shivatzki, S, Yizhar-Barnea, O, Elkan-Miller, T, Tayeb-Fligelman, E, Kim, S.M., Landau, M., Kanaan, M., Chen, P., Matsuzaki, F., Sprinzak, D. and Avraham, K.B. (2015) The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm. Genome, 27:29-46. PMID: 26662512
- Rudnicki, A.*, Isakov, O.*, Ushakov, K., Shivatzki, S., Weiss, I., Friedman, L.M., Shomron, N. and Avraham, K.B. (2014) Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways. BMC Genomics. 15:484
