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There is currently no cure for the syndrome. Treatment is preventive and associated to improve the patient life quality in light of the cardiologic, orthopedic and ophthalmologic effects. Lygia da Veiga Pereira PHD, lecturer and doctor, is one of the most important Marfan syndrome researchers in the world and uses animal models to perform live studies on the gene function.
Profª Dra. PHD Lygia Pereira Cientista Marfan

Since the gene was discovered in 1991, it has been possible to develop pre-symptomatic and prenatal molecular diagnosis methods on the disease. The researcher breeds genetically modified mice, which have the same mutations, which affect humans. This will make it possible to study the development of Marfan syndrome possible treatments for the disease. The Genome project performed in each country is attempting to penetrate the mystery that surrounds our genetic code. In Brazil, Dr. Ana Beatriz Alvarez Perez and Dr. Lygia Pereira are embarking upon a new Marfan Syndrome project, in an attempt to map out the several mutations to support a genotype-phenotype correlation and future gene therapy.

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Profª Dra. Ana Beatriz Alvarez Perez

Please click here should you want further information about the research and should you wish to participate Participation entails an interview/survey (performed by you or your doctor) and donation of a small blood sample.