Page 40 - Rappaport Institute Magazine 2024

GENETICS AND DEVELOPMENTAL BIOLOGY
Tamar Ben-Yosef, PhD Professor of Genetics
PhD, 1998 – The Hebrew University of Jerusalem, Israel
The genetic basis for inherited retinal diseases
Inherited retinal diseases (IRD) are a heterogeneous group of diseases, which cause visual loss due to the premature death or dysfunction of retinal photoreceptors. These include retinitis pigmentosa, cone-rod degeneration, Leber congenital amaurosis and more. Over 200 genes have been implicated in IRD. However, the contribution of each of these genes to the overall prevalence of IRD is relatively small, and in many patients the underlying genes are yet to be found. Moreover, the specific function of many of the identified genes is not fully understood. Work in our lab is focused on identification of the genetic basis for IRD in the Israeli population. In addition, we perform functional studies of genes associated with IRD. Research projects in the lab combine advanced techniques in Human Genetics, cell culture, mouse models and more. Our work has important implications for molecular diagnosis, carrier screening and genetic counseling to IRD patients. In addition, our findings contribute to the understanding of the etiology of IRD and of normal retinal function.
Selected Publications
ˆ Bauwens, M., Celik, E., Zur, D., Lin, S., Quinodoz, M., Michaelides, M., Webster, A.R., Van Den Broeck, F., Leroy, B.P., Rizel, L., Moye, A.R., Meunier, A., Tran, H.V., Moulin, A.P., Mahieu, Q., Van Heetvelde, M., Arno, G., Rivolta, C., De Baere, E., Ben-Yosef, T. Mutations in SAMD7 cause autosomal recessive macular dystrophy with or without cone dysfunction. Am. J Hum. Genet (2024), 111:393-402.*
* An international collaboration with members of the European Retinal Disease Consortium (ERDC): Prof. Gavin Arno, Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Prof. Carlo Rivolta, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Switzerland; Prof. Elfride De Baere, Ghent University Hospital, Belgium.
ˆ Sharon, D., Ben-Yosef, T., Goldenberg- Cohen, N., Pras, E., Gradstein, L., Soudry,
S., Mezer, E., Zur, D., Abbasi, A.H., Zeitz, C., Cremers, F.P.M., Khan, M.I., Levy, J., Rotenstreich, Y., Birk, O., Ehrenberg, M., Leibu, R., Newman, H., Shomron, N., Banin, E., Perlman, I. A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Hum Mutat 41(1):140-149 (2020). *
*A nation-wide collaboration with members of the Israeli Inherited Retinal Disease Consortium (IIRDC)
ˆ Allon, G., Mann, I., Remez, L., Sehn, E., Rizel, L., Nevet, M.J., Perlman, I., Wolfrum,
U., Ben-Yosef, T. PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation. Hum Mol Genet 28: 4078–4088 (2019).*
*A collaboration with Prof. Uwe Wolfrum from Johannes Gutenberg-Universität Mainz, Mainz, Germany
Tatour, Y., Sanchez-Navarro, I., Chervinsky, E., Hakonarson, H., Gawi, H., Tahsin-Swafiri, S., Leibu, R., Lopez-Molina, M.I., Fernandez-Sanz, G., Ayuso, C., Tamar Ben-Yosef. Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet 54: 698–704 (2017).*
*A collaboration with Prof. Carmen Ayuso from Jimenez Diaz Foundation University Hospital (IIS-FJD), Madrid, Spain
Grants and Awards
ˆ 2014, Foundation Fighting Blindness (USA2014, Israel Science Foundation (ISF) ˆ 2017, Israel Ministry of Health2019, Israel Science Foundation (ISF)
benyosef@technion.ac.il
Tamar Ben Yosef Lab
Sterile alpha motif domain containing 7 (SAMD7) is a transcriptional repressor of many genes, including genes which are expressed in retinal photoreceptors. We identified bi-allelic mutations in SAMD7 as a cause for autosomal recessive macular dystrophy with or without cone dysfunction in individuals from Israel, Pakistan, Morocco and Africa.