Dr. Rajech Sharkia

Research interests

Studies on genetic disorders that resulted in identifying new gene mutations and new causative genes. These disorders were found to be related to our society thus, characterization of such genetic disorders had an international scientific impact as well as a specific benefit for the concerned families.
Consanguinity as a risk factor for genetic disorders and congenital malformations. This research interest was important to us as there was a lack of data from our region in this regard.
As our society proved to have a high rate of consanguinity that lead to increased incidence of genetic disorders, some of our studies focused on genetic counseling in order to determine the factors associated with the utilization of this service to pregnant women in the Arab society.
In the last two years we undertook comparative studies on neurodevelopmental disorders which are: autism and ADHD. The necessity of such studies emerged to us from the fact of the increased incidence of such cases as well as the lack of data about these disorders in our society.

Education

B.Sc., life science, Tel-Aviv University

M.Sc., Department of Plant Science, Tel-Aviv University.

Ph.D., Department of Plant Science, Tel-Aviv University.

Contact info:

email: :rajachsharkia@hotmail.com

mobile: +972-52-5343841

Selected publications

Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A. S., Reichbauer, J., Tao, F., … Sharkia, R., & Pyle, A. (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140(6), 1561-1578.

Mahajnah, M., Sharkia, R., Shorbaji, N., & Zelnik, N. (2017). The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children. Journal of Attention Disorders, 1087054717696768.

Sharkia, R., Shalev, S. A., Zalan, A., Marom‐David, M., Watemberg, N., Urquhart, J. E., … & Mahanjah, M. (2017). Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. American Journal of Medical Genetics Part A, 173(4), 1051-1055.

Hengel, H., Magee, A., Mahanjah, M., Vallat, J. M., Ouvrier, R., Abu-Rashid, M., …… Bauer, P. & Sharkia, R., et al. (2017). CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurology Genetics, 3(2), e144.

Rajech Sharkia, Holger Hengel, Ludger Schöls, Muhammad Athamna, Peter Bauer and Muhammad Mahajnah (2016) Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report. Journal of Medical Case Reports, 10 (1):67.

Muhammad Mahajnah, Rajech Sharkia , Nadeem Shurbaji and Nathanel Zelnik. (2016) The Clinical Profile of ADHD – Impact of Ethnic and Social Diversities in Israel. The Israel Medical Association journal: IMAJ, 18(6), 322.

Rajech Sharkia, Muhammad Mahajnah, Muhammad Athamna, Ahmad Sheikh-Muhammad, Abdelnaser Zalan. (2015) Variations in Types of First-Cousin Marriages over a Two-Generation Period among Arabs in Israel. Advances in Anthropology, 5, 171-176.

Rajech Sharkia, Jalal Tarabeia, Esmael Atamany, Muhammad Athamna, Stavit Allon-Shalev. (2015) Factors affecting the utilization of genetic counseling services among Israeli Arab women. Prenatal Diagnosis, 35:1-6.

Muhammad Mahajnah, Rajech Sharkia, Haitham Shalabe, Ruth Terkel-Dawer, Ashraf Akawi and Nathanel Zelnik. (2015) Clinical Characteristics of Autism Spectrum Disorder in Israel – Impact of Ethnic and Social Diversities. BioMed Research International, 2015:962093.

Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B. (2015) Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Mol Vis. 15;21:306-15.

Rajech Sharkia, Muhammad Mahajnah, Esmael Athamny, Mohammad Khatib, Ahmad Sheikh-Muhammad and Abdelnaser Zalan. (2015) CHANGES IN MARRIAGE PATTERNS AMONG THE ARAB COMMUNITY IN ISRAEL OVER A 60-YEAR PERIOD. Journal of Biosocial Science; 22: 1-5.

Sharkia R., Mahajnah M, Zalan A, Sourlis C., Bauer P. Schöls L. (2014) Sanfilippo type A: New Clinical Manifestations and Neuro-imaging findings in patients from the same family in Israel. Journal of Medical Case Reports, 8:78.

Martial Mallaret, Matthis Synofzik3 Jaeho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, Mathilde Renaud, Fabrice A.C. Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean-Louis Mandel, Mark Bedford, Mustafa A. Salih, , Peter Bauer, Rebecca Schüle, Ludger Schöls, Marcelo Aldaz, Michel Koenig. (2014) The tumor suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 137; 411–419.

Sharkia, R., Mahajnah, M., Zalan, A., Athamna, M., Azem, A., Badarneh, K., and Faris, F. (2013). Comparative screening of FMF mutations in various communities of the Israeli society. European journal of medical genetics. ‏ 56(7):351-5