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Exploring RNA-targeted gene therapy approaches for Hypertrophic Cardiomyopathy
Portugal (PorMSIC) - University of Lisbon, Lisbon
Cell Biology Unit, Instituto de Medicina Molecular
Professor Maria Carmo-Fonseca
Prof. Teresa Carvalho / Prof. Sandra Martins
English, Spanish and Portuguese
Type of Research Project
- Basic science
What is the background of the project?
HCM is an autosomal dominant disease, which affects the myocardium leading to its hypertrophy. It occurs in 1:500 individuals and is the most common hereditary disease of the heart and cause of sudden death in young adults and athletes. HCM-causing mutations affect genes that code for proteins of the sarcomere, which is the functional unit of the cardiomyocytes. There are currently more than 1000 HCM-associated mutations identified in 15 different genes. MYBPC3, MYH7 and TNNT2 account for at least 60% of all cases of HCM. Despite all the knowledge regarding the genetic mutations associated with the disease, it is still not possible to establish genotype-phenotype correlations of prognostic value. HCM is characterized by a highly heterogeneous phenotype, so understanding the genotype phenotype relationships present in this disorder is crucial for better informed counseling, to establish a profile of risk for the development and severity of the disease, and for allowing a better clinical management of HCM patients minimizing life-threatening situations that may culminate with sudden death.
What is the aim of the project?
In this project we will develop experimental models to study in a personalized manner how mutations and genetic variants found in HCM patients affect cardiomyocyte function. Our first goal is to determine how known HCM pathogenic mutations influence cardiomyocyte function at cellular level.
What techniques and methods are used?
Cellular and molecular biology methodologies (including mammallian cell culture, fluorescence microscopy, PCR, cloning).
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 will be done under supervision
What are the tasks expected to be accomplished by the student?
The student will be integrated in a research project and participate in all the laboratory activities in a daily basis.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
There will be preliminary readings.
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 presentation - The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
The student should have a basic knowledgment on cell and molecular biology.
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
- Doudna; J.A. and Charpentier; E. 2014. Genome Editing. The New frontier of genome engineering with CRISPR-Cas9. Science 346(6213): 1258096.
- Maron; B.J. and Maron; M.S. 2013. Hypertrophic Cardiomyopathy. Lancet 381: 242-255.
- Chong; J. J. H.; Yang; X.; Don; C. W.; et.al. 2014. Human Embryonic Stem Cell-Derived Cardiomyocytes Regenerate Non-Human Primate Hearts. Nature 510 (7504): 273–277.
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