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Molecular basis of Cornelia de Lange Syndrome
Spain (IFMSA-SPAIN)-University of Zaragoza, Zaragoza
Pharmacology and Physiology, University of Zaragoza
Prof. Miguel Angel Plaza Carrion
Juan Pie Juste, Maria Esperanza Teresa Rodrigo, Maria Hernandez
Type of Research Project
- Basic science
What is the background of the project?
We are a group dedicated to the research of the molecular basis of rare diseases. We focus on the processes in which the ketone bodies synthesis has been altered and the syndromes which cause dysmorphology.
What is the aim of the project?
Learn the basis for the diagnosis of monogenic diseases.
What techniques and methods are used?
DNA extraction from peripheral blood, specific exon amplification by PCR method, manipulation and inoculation of agarose gel, sequencing reactions, chromatograms interpretation
What is the role of the student?
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
- The student is expected to show interest and be responsible for their work. We want a student committed to their research exchange. He/she will learn and help us in our laboratory; the more they learn - the more they know and the better they do at the laboratory.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
The students can also participate in our courses and seminars.
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?
The students need to have studied biochemistry and physiology.
Are there any legal limitations in the student’s involvement
Liability insurance needed
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Pre-Medical students from the American-British system
- Arnedo M et al. Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol. J Lipid Res. 2012 Oct;53(10):2046-56. doi: 10.1194/jlr.M025700. Epub 2012 Jul 30.
- Lardoeyt Ferrer R et al. Updating the molecular bases of the Cornelia de Lange syndrome concerning three cases. Rev Cubana Genet Comunit. 2011;5(2-3):133-138
- Liu J et al. Cornelia de Lange syndrome. Adv Exp Med Biol. 2010;685:111-23. We will provide a manual in which is explained the basic knowledge of methods and techniques needed in a laboratory.
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