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Prof. Ghada El-Kamah

Clinical Genetics
Clinical Genetics Dept. National Research Center

Brief Biography:

Scientific activities: participant in
1. ICGEB project; New DNA techniques for identification of mutations in the beta globin gene in Egyptian beta thalassemia patients. 1993-1997
2. Co-PI: Molecular studies in some genetic diseases in Egyptians. 1998-2001.
3. NRC grant; Genetic Classification and Diagnosis of Patients Referred to the Human Genetics Department’s Clinics with Studies on the Effect of Consanguinity, FISH, Prenatal Diagnosis and Electric Microscopic Diagnosis of Gingival Biopsy.
4. NRC grant; Clinical genetics and its relevance to the prevention of genetic diseases and malformations in Egyptians. 2004-2007.
5. Data base establishment for genetic disorders in Egyptians. 2007-2010.(extended)
6. Establishment of DNA banking at NRC, 2010 extending.
7. Gestational diabetes Mellitus screening, early diagnosis, fetal and maternal care.2009-2011.
8. EU 1st   TAG (together against genodermatosis) project. 2008-2011.
9. Non EU-coordinator of Transversal approach to genodermatoses group.
10. Collaborative with Prof Hennies Kuln univ. on establishing molecular studies for Egyptian AR Ichthyosis patients.
11. PI “Hereditary Blood Disorders” NRC grant, 2010-2013.
12. Referee in the 1st International Congress on Health Genomics and Biotechnology held in Tehran, Iran from 24-26 November 2007.
13. Ethical coordinator of the Clinical Genetics department and the Ethical committee, NRC.
14. Organizing committee of ‘The First International Conference of Human Genetics” NRC, Egypt, 2010.
15. National and international genetics and medical societies.
16. Scientific committees in the Human Genetics & Genome Research division, NRC.
17. Supervising several Msc & PhD essays & theses.
Reviewer for: The Blood Coagulation and Fibrinolysis Journal, Journal of Pediatric Biochemistry, Clinical and Experimental Dermatology & Webmed Central Journal. Faculty teaching staff and co-organizer in the Clinical Genetics educational courses presented to general practitioners and paediatricians from ministry of health’s hospitals and clinics as well as international online training courses.
Training: Clinical courses (ESGM), molecular diagnostic techniques (NRC & Gaslini hospital, Genova), tissue engineering (Neuss, Germany) and in health research ethics.
1. Thirty publications in the field of human genetics.,Books: Co-author in books entiltled: An Easy Approach to Genetic Diagnosis. & Genetic Disorders Associated with Gingival Enlargement.


Academic positions:

M.B.B.Ch, M.Sc. Pediat., Ph.D. pediat. studies.


Research interests:

Clinical Genetics, Hereditary Blood Disorders, Genodermatosis, Community Genetics.


Any other information:

Compact disc production: Aiming at introducing genetic video counselling for the first time in Egypt, starting with beta thalassemia patients and families with preliminary satisfactory outcome.


Representative publications:
1. Ghada El-Kamah, Ekram Abd-El-Salam, Mohamad El-Nagar. Genetic engineering in prenatal diagnosis and treatment. M.Sc. Essay. Faculty of Medicine. Cairo University, 1988.
2. Ghada El-Kamah, Samia A. Temtamy, Amal El-Beshlawy, Mostafa El-Nashar, Mostafa El-Awady. Molecular studies and genotype phenotype correlation in Egyptian beta-thalassemia patients. Ph.D. Thesis. Institute of Childhood Studies. Ain Shams University, 1997.
3. New DNA techniques for identification of mutations in the beta globin gene in Egyptian beta thalassemia patients. Terminal evaluation report ICGEB collaborative research programme. ICGEB ref. # : CRP / EGY 93-01. Principle investigator: Prof. Dr. Samia A. Temtamy. 30 May 1997.
4. Ibtessam R. Hussein, samia A. Temtamy, Amal El-Beshlawy, M. El-Awady, Ghada El-Kamah, Maria Baffico and G. Romeo. Screening for beta-thalassemia mutations in Egypt by Reverse Dot Blot hybridization. Egypt. J. Genet. Cytol., 26:261-271 July, 1997.
5. Hussein I.R., Temtamy S.A., El-Kamah Gh., El-Awady M. and Romeo G.: Screening for the most common beta-thalassemia mutations and clinical variability among Egyptian patients.(abstract).6th international conference on thalassemia and the hemoglobinopathies & the 8th annual thalassemia parent & thalassemics  international conference.(5-10 April, 1997)malta.
6. Ibtessam R. Hussein, Amal El-Beshlawy, Adel Zein El-Abedin, Hossam Kandil, Magda I. Ramzy, Ghada El-Kamah, Mostafa I. Mostafa and Eman Abou-El-Ezz.  Assesment of  oro-dental and cranio-facial abnormalities in correlation with the genotype in beta-thalassemia patients. Cairo Dental journal 16(2): 115-122, 2000.
7. I.R. Hussein, Gh. El-Kamah, A. Abd-El-Aleem, A. Medhat, S. Farook, B. Foda and A. El-Beshlawy. The effect of some genetic factors on the clinical variability of beta-thalassemia.(Abstract). The 4th international conference for thalassemia (May 8-9,2003) Cairo.
8. Sobh HA, El-Kamah Gh and Makhlouf A. lipid profile in beta-thalassemia children and adolescents. Kasr El-Eini medical Journal. 5:239-250, 1999.
El-kamah Gh. And Temtamy SA. Variability of cardiac and limb involvement in the Holt-Oram syndrome. Kasr El-Eini medical Journal. 9 suppl.: 223-230, 2003.
9. Hussein IR, El-Kamah Gh, El-Beshlawy A and Foda B. The effect of -3.7 alpha globin gene deletion and gamma globin gene polymorphism on clinical variability of beta-thalassemia in Egyptian patients. The Medical Journal of Cairo University.4suppl.II: 299-304, 2003.
10. EL-Kamah Gh, El-Beshlawy A, Sobh HA and Hussein IR. Phenotypic scoring in thalassemia intermedia and the impact of underlying molecular defects. The Medical Journal of Cairo University.4suppl.II: 323-327, 2003.
11. El-Kamah Gh, Abd-El-salam GH, Hassan NA, El_Darouti M and Temtamy SA. Neurofibromatosis 1: Unusual clinical associations. Kasr El-Eini medical Journal. 10 suppl.: 45-56, 2004.
12. Temtamy SA, El-Kamah Gh, Ismail S, Mazen I and El-Darouty M. Report of four Egyptian cases representing two new rare types of Ehlers-Danlos syndrome. Journal of Arab Child. 15:91-111,2004.
13. Temtamy SA, Ismail S, El-Kamah Gh, El-Bassyouni HT, Katouri AIS, Ramzy M and Zaki ME. The phenomenon of more than one genetic disorder in the same individual or sib ship: Relevance to consanguinity. The Medical Journal of Cairo University.72suppl.II: 157-173, 2004.
14. El-Kamah Gh, El-Bassyouni HT and El-Darouty M. Hypomelanosis of Ito: Expanding the spectrum of the disease: Clinico-pathological variability. Egyptian Medical Journal of the National Research Centre. 6: 247-266, 2005.
15. Khaled R. Gaber, Mona K. Farag, Hala T. El-Bassyouni, Ghada El-Kamah, Somaya E.T Soliman. Maternal Vitamin B12 and the Risk of Neural Tube defects. Clinical Laboratory.53:69-75, 2007.
16. Afifi HH, Zaki  MS, El-Kamah  GY, El-Darouti M. “ Elejalde syndrome: Clinical and histological findings in an Egyptian male.”. Genetic Counselling .18,2: 179-188, 2007.
17. Ahmed I.S. Kotoury, Ghada Y. El-Kamah, Samira Ismail, Engy A. Ashaat. EEG changes and neuroimaging abnormalities relevance to severity of autism. Egypt. J. Med. Hum. Genet. 10, 1: 135-143, 2009.
18. Ghada Y. El-Kamah, Mohamad A. El-darouti, Ahmad IS. Kotoury, Mostafa I. Mostafa. Farber disease overlapping with stiff skin syndrome: Expanding the spectrum. Egypt. J. Med. Hum. Genet. 10, 1: 97-104, 2009.
19. Ghada Y. El-Kamah, Mostafa I. Mostafa. Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. Dermatology Online Journal 15, 5: 6, 2009.
20. El Darouti Mohamad, Zayed Amira, El-Kamah Ghada, Mostafa Mostafa: Ligneous Conjunctivitis with Oral Mucous Membrane Involvement and Decreased Plasminogen Level. Paediatric Dermatology. 26 (4): 448–451, 2009.
21. Temtami SA, Sobh HA, El-Kamah Gh Y. Investigating Intra-familial Phenotypic Variability among Egyptian Families of Beta Thalassemia Cases: Impact on Genetic Counselling. Journal of Applied Sciences Research. 5(9): 1185-1189, 2009.
22. El-Kamah GhY, Hosny LA, Sobh HA. Exploring phenotypic alterations in response to high haemoglobin F level in Egyptian beta thalassemia patients. Journal of Applied Sciences Research. 5(10): 1547-1551, 2009.
23. Ghada Y El-Kamah, Mohamed A El-Darouti,  Hala T El-Bassyouni,  Laila A Hosny, Sayeda A Hammad,  Ahmad A. Kotouri. Sister Chromatid Exchange Dosage Effect in Correlation to Phenotype in Egyptian Xeroderma Pigmentosum Patients. Research Journal of Medicine and Medical Sciences. 2009.
24. Afifi HH,  El-Ruby MO, El-Bassyouni HT, Ismail SI,  Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El Kamah GY, El Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA. Most Encountered Groups of Genetic Disorders in Giza Governorate, Egypt: Classification and Relevance. Bartislava Medical Journal. 111(2): 62-69, 2010.
25. GY El-Kamah, K Fong, M El-Ruby, HH Affifi, SE Clements, K Amr, M El-Darouti, JA McGrath. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. British Journal of Dermatology. 163(1): 213-215. 2010.
GMH Abdel-Salam, GY El-Kamah, GI Rice,  M EL-Darouti, H Gornall, M.Szynkiewicz, F Aymard, MS Zaki, AK Abdel-Aleem, P Lebon, YJ Crow. Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome. Neuropediatrics. Neuropediatrics. 41: 18– 23. 2010.
26. Mostafa MI, Zarouk WA, El Badry T, El-Kamah GhY. Class  II alleles  HLA-DQB 1 *  0301  among  a  seven  -  membered Egyptian family of a child with oral pemphigoid. Bartislava Medical Journal. 112(10): 591-594. 2011.
27. Ghada M.H. Abdel-Salam, Noriko Miyake, Maha M. Eid, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Ola M. Eid, Laila K. Effat, Tarek H. El-Badry, Ghada Y. El-Kamah, Mohamed El-Darouti, and Naomichi Matsumoto. A Homozygous Mutation in RNU4ATAC as a Cause of Microcephalic Osteodysplastic Primordial Dwarfism Type I (MOPD I) With Associated Pigmentary Disorder. American Journal of Medical Genetics. 2885-2896. 2011
28. Samia A. Temtamya, Maha M. Eidb, Amal M. Mohamedb, Hesham F. Kayedb, Marwa I. Shihabb and Ghada El-Kamah. Fanconi anemia: studying telomeres and telomerase genes using fluorescent in-situ hybridization technique in Egyptian patients. Medical Research Journal . 10:23–26. 2011.
29. Khalda Amr, Mostafa Mostafa,  Ghada El-Kamah. Mandibuloacral dysplasia mutation detection in three Egyptian families: A report of a novel mutation. L Sci J. 9(1): 940-944. 2012.
30. Eid MM, Temtamy SA, El-Kamah G, Eid OM. Cytokinesis-blocked micronucleus assay in a group of Egyptian patients with Fanconi anemia? Middle East Journal of Medical Genetics. 2012.


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