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Dr. Rajech Sharkia

Dr. Rajech Sharkia

Research interests

In the Human Biology and Genetics unit, headed by Dr. Sharkia, we investigated several aspects of inherited diseases in the Arab society of Israel like the prevalence of consanguinity, the relation between consanguinity and the emergence of genetic diseases, and identifying new rare genetic disorders among the Arab society in Israel.

A further important aspect that is dealt with by our unit is through improving the quality of life in the studied community. This goal was achieved by implementing various educational and preventive programs that helped to direct specific support for lots of families having affected members.

Many activities of the Unit of Human Biology and Genetics were carried out in collaboration with other local and international institutions. The aims could be achieved through network of collaborations created with eminent researchers affiliated with various institutions. Most importantly, recently we started to secure the involvement of patients and their families in our educational and intervention programs.

Scientific research: Studies on the molecular basis of rare genetic diseases

Our unit was first established in 2005, when we studied the genetic diseases and their related risk factors in the Arab society of Israel. Later, the main concern started concentrating on the rare-neurogenetic diseases. A prominent venture was undertaken as a trilateral project (Israeli-Palestinian-German) supported by the DFG (German Research Foundation).  The project focused on the identification of new neurogenetic and ophthalmic disorders in about 150 Arab families including 500 family members with neurological or ophthalmological diseases from consanguineous background in Arab villages of Israel and the Palestinian Authority.  Whole-exome sequencing as a first-line diagnostic tool was used and we were able to establish a probable genetic diagnosis in 55% of the families.  The number of genetic diseases identified was unprecedented. Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: ACO2, ADAT3, ALS2, AMPD2, APTX, B4GALNT1, CAPN1, CLCN1, CNTNAP1, DNAJC6, GAMT, GPT2, KCNQ2, KIF11, LCA5, MCOLN1, MECP2, MFN2, MTMR2, NT5C2, NTRK1, PEX1, POLR3A, PRICKLE1, PRKN, PRX, PTRH2, SCAPER, SEPSECS, SGCG, SLC25A15, SPG11, SYNJ1, TMCO1, TSEN54 FAM161A, BCAS3 and VWA1. Additionally, three published candidate genes (AHR, WWOX and PAX7) were identified in this project.

 Several of these newly identified families presented with clinical features that had not been described for the respective disease before and thus helped to improve recognition of the diseases by substantial expansions of the phenotypic spectrum. Even more important, we established certain therapeutic follow-up under the supervision of specialized physicians for some of the affected families. Furthermore, they were referred to genetic counselling service and supporting them for a better decision making of the family, thus, positively affecting their future offspring.

As the Arab society of Israel has unique socio-demographic and cultural characteristics with some common and rare genetic disorders and high rates of consanguineous marriages, that differ from the rest of the population, therefore, implementing genetic counseling and educational programs for this population should be carefully designed and given utmost priority.

In our unit at TRDC, we implement genetic health and educational programs concerning four main topics: (i) basic terms in genetics and genetic disorders, (ii) consanguinity, (iii) genetic testing services and (iv) genetic counseling – a traditional struggle for the studied families and other community members. These programs aim to raise the knowledge level and awareness of the families and the community members and highlight the risks of consanguineous marriages. Furthermore, through these programs we project the emotional sufferings and the economic burden (on both the individual and the society) resulting from the inherited genetic disorders, thus, we do our best to support the families and give them a hand to cope with their specific situation. These efforts are carried out through joined lectures, seminars, workshops, and various educational tools. Recently, some interested members from the affected families started to be involved in these community-based preventive programs.


Selected publications

Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Hazar Zahalka, Ayman Asaly, Muhammad Mahajnah. CLN8 gene compound heterozygous mutations: A new case and protein’s bioinformatic analyses. (2022), Manuscript communicated to Genes- Manuscript ID: genes-1781220.

Zalan A, Khatib M, Sheikh-Muhammad A, Mahajna M, Sharkia R.  Consanguinity Status in the Arab Society of Israel: Is it Different? American Journal of Biomedical Science and Research. 2021: – 15(1). AJBSR.MS.ID.002071. DOI: 10.34297/AJBSR.2021.15.002071

Sharkia, R., Khatib, M., Sheikh-Muhammad, A., Mahajnah, M. and Zalan, A. The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?Journal of Biosocial Science.  2021: Dec 6;1-5. (SJR: IF=0.57, Q1).

Zalan A, Sheikh-Muhammad A, Khatib M, Sharkia R. The Current and forecasted Status of Type 2 Diabetes in the Arab Society of Israel. Current Diabetes Reviews. 2021: 17(8):e050421192659. (SJR: IF=0.63, Q3)

Zalan A., Sharkia R. (2021) Type 2 Diabetes Mellitus (T2DM) in the Arab Society of Israel. In: Laher I. (eds) Handbook of Healthcare in the Arab World. Springer, Cham. as well as the link:

Abdelnaser Asad Zalan and Rajech Abdullah Sharkia, book chapter entitled: “Genetic Counseling (GC) in the Arab Society of Israel” has recently been published in; “A Comprehensive Guide to Genetic Counseling”, Published by: Nova Science Publishers, Inc. New York, 2020. ISBN 9781536169751 (paperback) | ISBN|9781536169768 (adope pdf). Editor:Benjamin A. Kepert, 415 Oser Avenue, Suite N, Hauppauge, NY 11788 USA, Tel: 631-231-7269, Fax: 631-231-8175. novapublishers.com

Sharkia, A. Zalan, A. Jabareen-Masri, H. Hengel, L. Schöls, A. Kessel, A. Azem, M. Mahajnah. A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia.American Journal of Medical Genetics: Part A. 2019: 179(7), 1338-1345. (SJR: IF=1.1, Q2) (cited by 4)

Sharkia R., Zalan A., Jabareen-Masri A., Zahalka H., Mahajnah M. A new case confirming and expanding the phenotype spectrum of ADAT3 related intellectual disability syndrome. European Journal of Medical Genetics. (2019): 62(11) 103549. (SJR: IF=0.87, Q1) (cited by 17)

Sharkia R, Sheikh-Muhammad A, Mahajnah M, Khatib M and Zalan A. Exploration of risk factors for type 2 diabetes among Arabs in Israel. Annals of Global Health. 2019: 85(1): 67, 1–7. (SJR: IF=0.52, Q2) (cited by2)

Sharkia R., Mahajnah M., Sheikh-Muhammad A., Khatib M., Zalan A. Trends in the prevalence of type 2 diabetes mellitus among Arabs in Israel: A community health survey. Global Advanced Research Journal of Medicine and Medical Sciences. 2018: 7(4): 098-104. (IF=1.185, according to journal cite) (cited by 3)

Sharkia R., Shalev S., Zalan A., Marom-David M., Watemberg N., Urquhart J., Daly S., Bhaskar S., Williams S., Newman W., Spiegel R., Azem A., Elpeleg O., Mahajna M. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. American Journal of Medical Genetics Part A. 2017: 173(4): 1051-1055. (SJR: IF=1.1, Q2) (cited by=7)

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. Brain140(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 A173(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 Genetics3(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: IMAJ18(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