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Genetics of cardiomyopathies
Spain (IFMSA-SPAIN) - University of Oviedo, Oviedo
MOLECULAR GENETICS LABORATORY HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS AVENIDA DE ROMA SN-33011 OVIEDO SPAIN
ELIECER COTO GARCIA
ELIECER COTO GARCIA
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Genetic testing in familial cardiomyopathies. We would work in the genetic testing with molecular tools to identify the genetic cause of cardiac disease in families. This would help in the genetic cousling and the therapeutical options. In particular, we work in Hypertrophic and Dilated Cardiomyopathies. Our group is also involved in the research of genetic determinants of high lipid values, particularly Familial Hypercholesterolemia, either familial and in the general population (polygenic hyperlipaemia) and its relationship with Coronary Artery Disease. The Molecular Genetics Lab-HUCA is a reference centre for the genetic study of cardiomyopathies in Spain, and receives patients from several Hospitals in Spain. These patients/families are the used to search for new genetic determinants in these diseases. Our lab collaborates with other research groups in Spain and Europe. The main objective is to discover the genetic basis of IFMSA International Secretariat, c/o IMCC, Nørre Allé 14, 2200 København N., Denmark inherited cardiomyopathies to translate the genetic information to the clinical practice.
What is the aim of the project?
To learn about the Genetic testing / Genetic counseling in cardiovascular diseases, such as cardiomyopathies (hypertrophic, dilated), cardiac arrhytmias (long QT and Brugada syndromes) and familia hypercholesterolaemia.
What techniques and methods are used?
Our lab uses techniques for genetic studies, including the sequencing of large panels of genes implicated in cardiac familial diseases. We work with patients referred to genetic studies by the cardiologists. The students with learn and practice about the genetic techniques, such as: PCR, NGS, Sanger sequencing: Identification of index cases, elaboration of family trees to characterise the inheritance pattern, decision about what genes to study, DNA extraction, polymerase chain reaction, Sanger sequencing, genotyping techniques, Next Generation sequencing (exome and specific gene panels), sequencing interpretation (variants classification), genetic reports elaboration (diganostic and genetic counseling), among others.
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?
Molecular Genetics techniques, specifically: The students with learn and practice about the isolation of DNA, amplification of DNA (PCR), sequencing of DNA by NGS and Sanger sequencing; elaboration of family trees to characterise the inheritance pattern, decision about what genes to study, genotyping techniques, Next Generation sequencing (exome and specific gene panels), sequencing interpretation (variants classification), genetic reports elaboration (diagnostic and genetic counsel), among others.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Papers about the topic, lab protocols
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?
Genetics, Molecular Genetics (Basics)
Are there any legal limitations in the student’s involvement
Insurance in order to work in a lab (institution requirement) LOREs will tell by the time of sending the CA
Type of students accepted
This project accepts: - Medical students - Students in biomedical fields
- The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy. Gómez J; Reguero JR; Coto E. Rev Esp Cardiol (Engl Ed). 2016 Jan;69(1):61-8. doi: 10.1016/j.rec.2015.10.001. Epub 2015 Dec 5. Review. PMID: 26654849
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