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[Tunis]Molecular diagnosis of hereditary defect of red blood cells
Tunisia (ASSOCIA-MED) - University of Tunis El-Manar/Faculty of Medecine of Tunis, Tunis
Laboratory of molecular and cellular hematology, Pasteur institute of Tunis , Tunisia
Pr. Menif Semia
Pr. Menif Semia , Dr H.Ouragini
English, French and Arabic.
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Constitutional hemolytic anemias are caused by intrinsic defect of red blood cells and can be genetically determined. These anemias are classed in 3 groups : - Hemoglobinopathies such as thalassemia and sickle cell anemia. - Defect of erythrocyte membrane. - Enzymopathies of red blood cells such as defect of G6PD ( Glucose-6-phosphate dehydrogenase ) and defect of pyruvate kinase.
What is the aim of the project?
The aim of our studies is to understand exactly the physiopathology of these hereditary diseases and so to be able to establish a prenatal diagnosis by the use of different molecular methods.
What techniques and methods are used?
The techniques and methods that are used are : - Polymerase Chain Reaction (PCR) - Sequence method - DNA electrophoresis
What is the role of the student?
- The student will observe the practical experiments but will be highly involved in the analysis of the results
What are the tasks expected to be accomplished by the student?
To contribute to the development of molecular methods of diagnosis in Medicine.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation - The student will prepare a scientific report - The student’s name will be mentioned in a future publication
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
- The exchange students participating in this project should be a medical student who already has a good knowledge about hematology, biochemistry and genetics. - A white coat is obligatory for this clinical research project.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Pre-Medical students from the American-British system
- Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene M. JAOUANI*; L. MANCO†;‡; M. KALAI*; L. CHAOUCH*; K. DOUZI*; A. SILVA§; S. MACEDO§; I. DARRAGI*; I. BOUDRIGA*; D. CHAOUACHI*; Z. FITOURI¶; R. VAN WIJK**; M. L. RIBEIRO†; S. ABBES* *Laboratoire d’H ́ematologie Mol ́eculaire et Cellulaire; Institut Pasteur de Tunis; Universit ́e de Tunis El Manar; Tunis; Tunisia †Unidade de Hematlogia Molecular; Centro Hospitalar e Universit ́ario de Coimbra (CHUC); Coimbra; Portugal ‡Research Centre for Anthropology and Health (CIAS); Department of Life Sciences; Universidade de Coimbra; Coimbra; Portugal §Instituto de Investigacß ̃ao e Inovacß ̃ao em Sa ́ude; Universidade do Porto; Porto; Portugal ¶Service de p ́ediatrie-urgences- consultations; Hˆopital d’Enfants de Tunis; Tunis; Tunisia **Laboratory for Red Blood Cell Research; Department of Clinical Chemistry and Hematology.
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