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There are at least 10.000 ALS patients in Brazil and this population is of great value to this project due to its genetic background variability, since we have mixtures of Caucasians, Africans, Asians and Native Americans.
The Human Genome and Stem Cell Research Center (HUG-CELL) is the largest center of research and diagnosis of genetic disorders In Latin America. Among different disorders we are investigating, ALS play an important role. Our group has identified one of the inherited ALS form (ALS8-VAP-B gene) and since then we have been involved in ALS research.We are investigating new therapeutic approaches focusing stem cell therapy in preclinical studies and also generating IPS cells from ALS patients with different mutations. That is why we are extremely interested in taking part of the international Project MinE. As main reference center for neuromuscular disorders in Brazil we has access to a great number of patients that would be enrolled in this project. Therefore, the centre will be responsible for collecting, processing the samples and analyzing the data.
The Paulo Gontijo Institute (IPG) was created in 2005. It is a non-profit organization aiming to support ALS research and also bringing robust and reliable information to patients. The institute seeks to increase its support for scientific studies, deepen the national and international knowledge management, and provide larger-scale exchange between researchers. The PG Award – ALS/MND is an annual and globally reputed prize that recognizes the contribution of young ALS scientists and it is one of the main scientific initiatives of the institute, which includes the organization of a biannual ALS Forum in Brazil (now in its 3rd edition). Additionally, the IPG has been supporting Brazilian scientists since 2007 in their research, and collaborated in the development of a new in vitro model for the disease. In order to achieve the above described goals, the IPG is extending its longstanding partnership with experienced researchers in the Human Genome and Stem Cell research center (HUG-CELL) in the University of São Paulo.
In Brazil, we have as ambassador for Project MinE
As the daughter of an ALS patient, Mrs Marcela is very involved with the ALS community since 2005. She believes that Project Mine is crucial to identify the causes of ALS.
Project MinE research in Brazil is performed at the Human Genome and Stem Cell Research Center at the University of São Paulo (USP)
Mayana Zatz is professor of Human and Medical Genetics. Director of the Human Genome Research Center (Hug-cell) and Institute of stem -cells in genetic disorders, at the University of São Paulo (USP). Her research projects in human and medical genetics, are focused mainly in stem-cells (as a tool to understand gene functioning and cell therapy) and neuromuscular disorders focusing the following aspects: gene identification, genotype-phenotype correlations , and mechanisms underlying clinical variability. She published 340 peer-reviewed papers (February 2015), which were cited almost 8700 times (average 31 per paper; H index= 43 web of knowledge, February 2015). She was the mentor of 45 Msc/PhD thesis. Awarded for several international prizes such as: L ‘Oreal ‘s/UNESCO for Women in Science, best Latin American researcher in 2001, TWAS for Research in Medical Sciences in 2004, Mexican Prize of Science and Technology in 2008 and Gaetano Conte in 2011. She was columnist of the weekly magazine VEJA having written more than 250 articles for lay people. Is author of the book Gen ÉTICA. From 2010 to 2012 she was part of the board of revisors (BORE) of scientific journal Science. Has been actively involved in ethical aspects related to genome research, genetic testing and scientific political decisions regarding the approval of the embryonic stem -cells bill in Brazil in 2005 by the Congress and 2008 by the Supreme Court.
Scientific coördinator at Paulo Gontijo Institute, Scientific Consultan at Fleury Group and Associate Researcher at Center for Human Genome and Stem-cell Research (USP). PhD in Human Genetics, from University of São Paulo (USP). PhD internship at University of California San Diego (motor neuron disease modeling, iPSC, cell reprogramming). PhD Internship at Baylor College of Medicine (monoclonal antibodies development). Bachelor’s at Biological Sciences from Universidade de São Paulo (2005). Honorable Mention to the PhD thesis from University of São Paulo and CAPES. Has experience in Genetics, focusing on Human and Medical Genetics, acting on the following subjects: Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Mutation Identification, Functional Studies, Cell Reprogramming (iPSC), Pluripotent Stem Cells, Protein expression, Mutation Identification, Next Generation Sequencing (NGS), Molecular Diagnostics Tests development.
Dr Rotta is Medical Coördinator at Paulo Gontijo Institute, Director of Clinical Neurophysiology, Neurologist and Neuromuscular Specialist at Moinhos de Vento Hospital. He graduated from Universidade Federal do Rio Grande do Sul (UFRGS) School of Medicine in 1992. He did his Internship in Internal Medicine at Wayne State University/Detroit Medical Center (1992-1993), his Residency in Neurology (1993-1996) and Fellowship in Neuromuscular Diseases (1996-1997) at University of Miami/Jackson Memorial Hospital. From 2009 to 2011 he was Director at the International Alliance of ALS/MND Associations.