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Genetic analysis of patients with inherited retinal diseases
Israel (FIMS) - Technion, Haifa
Pappaport Faculty of Medicine, Technion – IIT 1, Efron St, Haifa 31096 Israel
Prof. Tamar Ben Yosef
Prof, Tamar Ben Yosef
Type of Research Project
- Basic science
What is the background of the project?
Inherited Retinal Diseases (IRD) are a heterogeneous group of diseases, which cause visual loss due to the premature death of photoreceptors in the retina. The worldwide prevalence of IRD is approximately 1:4000. Over 250 genes have been implicated in IRD. This heterogenity makes genetic analysis in IRD patients comlicated and expensive, and requires a combination of several approaches. The vast majority of studies on the genetics of IRD have been performed on the American and European populations and therefore the results are limited to the set of causative genes in these populations. The genetic structure of the Israeli population is unique, and therefore there is a dramatic difference between the Israeli population and other populations regarding the identity and relative contribution of genes underlying IRD. Our working hypothesis is that by performing a comprehensive genetic analysis of affected Israeli families of various ethnic backgrounds, we will identify novel IRD genes and mechanisms.
What is the aim of the project?
To identify the genetic basis for IRD in Israeli families of various ethnic backgrounds
What techniques and methods are used?
Currently we are aware of multiple founder mutations which are common among specific Israeli ethnic groups. Each patient who joins the study is first screened for such mutations, according to his ethnic background. Mutation screening is performed by PCR (polymerase chain reaction) amplification and Sanger sequencing. Patients who are negative for all relevant mutations are then sent for Next Generation Sequencing, including Whole Exome Sequencing or Targeted Next Generation Sequencing. The results of these platforms require careful bioinformatics analysis, to identify the underlying genetic defect. Identified mutations will be verified by Sanger Sequencing, and their segregation in the patient's family will be studied.
What is the role of the student?
- The tasks of the student will be performed on his/her own
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student will observe during patient recruitment sessions. The student will perform analyses on DNA (Deoxyribonucleic Acid) samples, while using the following methods: PCR (polymerase chain reaction) amplification of specific genomic region; gel electrophoresis of PCR products; preparation of PCR products for Sanger sequencing; analysis of sequencing results; analysis of Next Generation Sequencing results.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
The student will be asked to read a review on Inherited Retinal Diseases.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- No specific outcome is expected
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Subjects passed: molecular biology and genetics.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Pre-Medical students from the American-British system - Students in biomedical fields
- Ayuso; C. and Millan; J.M. (2010) Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med; 2; 34.
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