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Genetic and molecular basis of lysosomal storage disorders (LSD)
Spain (IFMSA-SPAIN)-University of Zaragoza, Zaragoza
Translational Research Unit. Aragon Health Sciences Institute (IACS). Miguel Servet H.
Pilar Giraldo Castellano
Jorge Javier Cebolla Sanz, Pilar Irún Irún, Laura López de Frutos, Blanca Medrano Engay
English or Spanish
Type of Research Project
- Basic science
What is the background of the project?
We are a group dedicated to the research of the genetic and molecular basis of rare diseases. We focus on different lysosomal storage diseases, finding out about new therapies for Gaucher disease, and strategies in the application of enzyme replacement therapies and the influence of genetic factors on the effectiveness. We are searching for other genes that influence the clinical variability of disease. Gaucher patients can receive enzyme replacement infusions. Enzyme replacement has worked well to control the systemic (non- central nervous system) complications most commonly found in Type 1 patients. However, the replacement enzyme has difficulty crossing the “blood brain” barrier, therefore, in the Type 2 and Type 3 form of Gaucher disease, it has had limited affect on the central nervous system, or brain involvement. So new drugs, which are capable to cross the blood-brain barrier should be investigated. The first step in our research will be to answer this question, thus, providing a direction to travel, in an effort to find a cure.
What is the aim of the project?
Evaluate the efficacy of different molecules as potential pharmacological chaperones. These molecules should enhance folding of mutant glucocerebrosidases proteins, that are defective in Gaucher disease.
What techniques and methods are used?
- DNA and RNA extraction from peripheral blood and cell cultures - Specific exon amplification by PCR method - Restriction enzyme digestion - Manipulation and inoculation of agarose gel - Sequencing reactions - Chromatograms interpretation - Enzyme activities
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)
We will provide a manual and articles in which are explained the basic knowledge of methods and techniques needed in a laboratory. 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 student must show interest on the project and be committed to the timetable. There are no legal limitations. They 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
- Giraldo P et al. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012;7:17.
- Weinreb N J et al. Semin Hematol. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. 2004;41:15-22.
- Alfonso P et al. Bicyclic derivatives of L-idonojirimycim as pharmacological chaperones for neuropathic forms of Gaucher disease.Chembiochem. 2013;14:943- 949.
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