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Detection of mutations causing congenital adrenal hyperplasia.
Slovakia (SloMSA) - Comenius University, Bratislava
Institute of Medical Biology, Genetics and Clinical Genetics
Assoc. prof. Daniel Böhmer, M.D., PhD.
Andrea Pastoráková, PhD., Robert Petrovič, PhD.
Required:: English Accepted: Slovak or Czech
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
We are the group dedicated to the research and diagnostic of the genetic and molecular basis of metabolic diseases. This project is a continuation of our longstanding activities in molecular genetic diagnostics of patients with congenital adrenal hyperplasia (CAH). CAH is one of the diseases caused by enzymatic deficiency of one enzyme participating in the synthesis of steroid hormones. For this genetically heterogeneous group of inherited diseases we use molecular genetic approaches necessary for identification of mutations in genes CYP21A2, CYP11B1 and HSD3B2. We are searching for other genes that influence the clinical variability of disease. CAH patients can receive hormone replacement therapy and foetuses at risk of virilising congenital adrenal hyperplasia undergo prenatal treatment of dexamethasone via the mother. In our laboratory for the diagnosis of congenital adrenal hyperplasia we use the following methods: Deoxyribonucleic acid isolation, Polymerase chain reaction, agarose gel electrophoresis, real-time polymerase chain reasction, minisequencing (Snapshot), Multiplex Ligation-dependent Probe Amplification, Sanger sequencing.
What is the aim of the project?
We investigate the deoxyribonucleic acid (DNA) of patients suspected of congenital adrenal hyperplasia to confirm the molecular basis of the disease.
What techniques and methods are used?
Mention the steps/stages in this project? (provide examples and avoid abbreviations without an explanation) Patients deoxyribonucleic acid (DNA) will be isolated and CYP21A2 gene will be analyzed using polymerase chain reaction (PCR), agarose gel electrophoresis, real-time PCR, SNaPshot minisequencing, multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing to detect mutations.
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
- 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 take active part in the practical aspect of the project. The tasks of theoretical knowledge about CAH will be performed by the student on his/her own. The tasks in the laboratory will be led and done under supervision, student will analysed real patients and solve their genotypes as well as the segregation in the family.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
No theoretical teaching provided. We recommend some theoretical information about molecular genetic methods and genetic basis of congenital adrenal hyperplasia.
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 poster
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Understanding basic notions of genetics, intellectual curiosity and willingness to learn new things. Experience in laboratory is an advantage.
Are there any legal limitations in the student’s involvement
Subjects passed: : biology, genetics, molecular biology or biochemistry
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Students in biomedical fields
- Saroj Nimkarn; MD; Prasanna K Gangishetti; MBBS; Mabel Yau; MD; and Maria I New; MD.: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia https://www.ncbi.nlm.nih.gov/books/NBK1171/
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