LOCAL ORGANIZING COMMITTEE
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Dr. Pereira graduated from the Pontifícia Universidade Católica of Rio de Janeiro, Brazil, with a BA in Physics. She has a M.S. in Biophysics from the Federal University of Rio de Janeiro, and a PhD in Biomedical Sciences with emphasis in Human Genetics from the Mount Sinai Graduate School/City University of New York. In 1996 she joined the University of São Paulo as Assistant Professor at the Department of Genetics and Evolutionary Biology, where she established the first lines of murine ES cells and first knockout mice (a mouse model for Marfan syndrome) in Brazil. In 2006, she was awarded a grant from the Cell Therapy program of the Brazilian Federal Government, leading to the establishment of the first lines of human ES cells in the country in 2008. Her research lines include the study of the epigenetic mechanisms in the human X chromosome; the development of human embryonic stem cell lines for research and therapy and the generation of ethnically diverse lines of hiPSCs for drug development. She is currently Full Professor at the Department of Genetics and Evolutionary Biology at USP, where she heads the National Laboratory for Embryonic Stem Cell Research; and she leads the DNA do Brasil project, aimed to include the Brazilian population in precision medicine by sequencing the genomes of 15.000 Brazilians.
In 2002, she was a member of the Brazilian delegation to the International Convention against Human Reproductive Cloning, UN, New York, USA. From 2002 to 2008 she was involved in the ethical and legal debates on human ESC research in Brazil, speaking at a public hearing at the Brazilian Supreme Court on the theme. These debates lead in 2008 to the approval of human ESC research in the country. She was elected one of the "100 most influential Brazilians" by IstoÉ Magazine in 2007 and in 2010. In 2008, she was considered one of “100 Personalities of the Year" by Revista Época, and received the award "Faz Diferença" of the newspaper O Globo in the category Science and History. In 2014 she received the Tiradentes Medal from the Legislative Assembly of the City of Rio de Janeiro. She is a member of the International Society for Stem Cell Research since 2011 where she presides the International Affairs Committee since 2019 and is member of the Board of Directors since 2020.
I am a physician-scientist working in neurogenetics, focusing on studying genetic and phenotypic markers in neurologic disorders. I am a full professor of Medical Genetics and Genomic Medicine at the Department of Translational Medicine, University of Campinas (UNICAMP), Brazil. I am particularly interested in studying the underlying molecular mechanisms leading to disease, aiming to find better treatment options and prevention. In recent years, my laboratory has focused on using new genomic techniques to answer some of these biological and clinical questions. My research team is a reference in Latin America for next-generation sequencing technologies, bioinformatics analysis of complex genomic data, and the study of non-coding RNAs. I have received several honors and awards for my scientific contributions, including the election as a member of the Brazilian Academy of Sciences, the highest award for scientists in Brazil. In addition, I have recently participated in establishing the Brazilian Initiative on Precision Medicine (www.bipmed.org) which launched the first public genomic database in Latin America, and the LatinGen (www.latingen.org), a web portal for the sharing of genetic and genomic information in Latin America. In addition, I introduced the first presymptomatic testing clinic for late-onset neurodegenerative disorders in Brazil in 1997. I am currently a principal investigator of the Brazilian Institute of Neuroscience and Neurotechnology (www.brainn.org.br), a center of excellence for research innovation and dissemination of science in Brazil (https://cepid.fapesp.br/en/home/). I have published 269 scientific papers in peer-reviewed journals, cited 13,672 times (google scholar), h-index = 53 (google scholar). In my career, I have supervised 71 graduate students, 29 post-doctoral research fellows, and 38 undergraduate students. Also, I work as an attending physician in the medical genetics outpatient clinic at the UNICAMP hospital.
Link to ResearcherID: http://www.researcherid.com/rid/B-9416-2013
Link to My Citations (Google Scholar): http://scholar.google.com.br/citations?user=H4g6TDcA.
Link to My Bibliography: https://www.ncbi.nlm.nih.gov/myncbi/1r5I4Ybvtb9gve/bibliography/public/
Link to PubMed: https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopes-Cendes
Dr Mariela Larrandaburu, PhD is a Medical Geneticist, President of Latin American Network of Human Genetics-RELAGH. Her expertise is in clinical genetics, genetic epidemiology and public health. She has a Diploma in Human Genetics, in Children and Adults, University of the Republic of Uruguay, MSc and PhD in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Brazil. She is a Technical Advisor of the Disability and Rehabilitation Program of the Ministry of Public Health of Uruguay, and a Professor at the Catholic University of Uruguay in Medicine School. Selected to join WHO Technical Working group on Burden of Birth Defect (TWGBBD)
Alejandra Mampel MD Mgter
Medical Genetics -SAG certified
Master in Clinical Research UNCuyo
Professor of the FCMédicas UNCuyo
MD of the University Hospital UNCuyo
Member of the Family Cancer Program PROCAFA (Ministry of Health of the Argentine Nation)
Advisor to the Argentine Human Variome Project
Vicepresident 2nd Argentine Society of Genetics
Gabriela Repetto, MD, leads the Rare Diseases Program at the Institute of Science and Innovation in Medicine at Clinica Alemana Universidad del Desarrollo School of Medicine in Santiago, Chile.
She is a clinical geneticist, researcher, educator and advocate in rare diseases. She received her MD degree from P Universidad Catolica de Chile, did a residency in Pediatrics at the University of Wisconsin-Madison in the US, and a genetics fellowship at Children´s Hospital in Boston
www.pocofrecuentes.cl
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SCIENTIFIC PROGRAM COMMITTEE
Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine.
Dr. Lee joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital. He is best known for his discovery that copy -- number variation - a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease—is widespread and significant in the human genome. This discovery, and his subsequent research, has provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands of genetic tests every year on conditions such as autism, birth defects and cancer.
Throughout his career, Dr. Lee has received numerous accolades and awards for his research into the human genome, including an Award from the American Association for Cancer Research and the 2008 Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), a 2014 Thompson Reuters Citation Laureate and is currently president of the Human Genome Organization (HUGO). In addition to his responsibilities at JAX Genomic Medicine, Dr. Lee is an adjunct professor at Xi’An Jiaotong University, Xi’An, China.
Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine, the Scientific Director of Online Mendelian Genetics in Man (OMIM). Dr. Hamosh received her BA in Biology from Wesleyan University, MD from Georgetown University, and MPH from Johns Hopkins School of Hygiene and Public Health. She completed a pediatrics residency and clinical and clinical biochemical genetics fellowship at Johns Hopkins Hospital. Dr. Hamosh has authored over 130 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including the International Rare Disease Research Consortium, the Human Variome Project, the ClinGen Project, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She will serve a two-year term as President of HUGO beginning in Spring 2023.
She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data for use in the CMG project that is freely available to all for clinical and research use, and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 14,000 submitters from 104 countries and >65,000 cases. Matches through GeneMatcher have resulted in >680 publications describing >500 novel disease genes. GeneMatcher is a founding member of the Matchmaker Exchange (MME). Dr. Hamosh serves on the steering committee of the MME and represents it on the steering committee of the GA4GH.
( biosketch soon!)
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LOCAL ORGANIZING COMMITTEE
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Dr. Pereira graduated from the Pontifícia Universidade Católica of Rio de Janeiro, Brazil, with a BA in Physics. She has a M.S. in Biophysics from the Federal University of Rio de Janeiro, and a PhD in Biomedical Sciences with emphasis in Human Genetics from the Mount Sinai Graduate School/City University of New York. In 1996 she joined the University of São Paulo as Assistant Professor at the Department of Genetics and Evolutionary Biology, where she established the first lines of murine ES cells and first knockout mice (a mouse model for Marfan syndrome) in Brazil. In 2006, she was awarded a grant from the Cell Therapy program of the Brazilian Federal Government, leading to the establishment of the first lines of human ES cells in the country in 2008. Her research lines include the study of the epigenetic mechanisms in the human X chromosome; the development of human embryonic stem cell lines for research and therapy and the generation of ethnically diverse lines of hiPSCs for drug development. She is currently Full Professor at the Department of Genetics and Evolutionary Biology at USP, where she heads the National Laboratory for Embryonic Stem Cell Research; and she leads the DNA do Brasil project, aimed to include the Brazilian population in precision medicine by sequencing the genomes of 15.000 Brazilians.
In 2002, she was a member of the Brazilian delegation to the International Convention against Human Reproductive Cloning, UN, New York, USA. From 2002 to 2008 she was involved in the ethical and legal debates on human ESC research in Brazil, speaking at a public hearing at the Brazilian Supreme Court on the theme. These debates lead in 2008 to the approval of human ESC research in the country. She was elected one of the "100 most influential Brazilians" by IstoÉ Magazine in 2007 and in 2010. In 2008, she was considered one of “100 Personalities of the Year" by Revista Época, and received the award "Faz Diferença" of the newspaper O Globo in the category Science and History. In 2014 she received the Tiradentes Medal from the Legislative Assembly of the City of Rio de Janeiro. She is a member of the International Society for Stem Cell Research since 2011 where she presides the International Affairs Committee since 2019 and is member of the Board of Directors since 2020.
I am a physician-scientist working in neurogenetics, focusing on studying genetic and phenotypic markers in neurologic disorders. I am a full professor of Medical Genetics and Genomic Medicine at the Department of Translational Medicine, University of Campinas (UNICAMP), Brazil. I am particularly interested in studying the underlying molecular mechanisms leading to disease, aiming to find better treatment options and prevention. In recent years, my laboratory has focused on using new genomic techniques to answer some of these biological and clinical questions. My research team is a reference in Latin America for next-generation sequencing technologies, bioinformatics analysis of complex genomic data, and the study of non-coding RNAs. I have received several honors and awards for my scientific contributions, including the election as a member of the Brazilian Academy of Sciences, the highest award for scientists in Brazil. In addition, I have recently participated in establishing the Brazilian Initiative on Precision Medicine (www.bipmed.org) which launched the first public genomic database in Latin America, and the LatinGen (www.latingen.org), a web portal for the sharing of genetic and genomic information in Latin America. In addition, I introduced the first presymptomatic testing clinic for late-onset neurodegenerative disorders in Brazil in 1997. I am currently a principal investigator of the Brazilian Institute of Neuroscience and Neurotechnology (www.brainn.org.br), a center of excellence for research innovation and dissemination of science in Brazil (https://cepid.fapesp.br/en/home/). I have published 269 scientific papers in peer-reviewed journals, cited 13,672 times (google scholar), h-index = 53 (google scholar). In my career, I have supervised 71 graduate students, 29 post-doctoral research fellows, and 38 undergraduate students. Also, I work as an attending physician in the medical genetics outpatient clinic at the UNICAMP hospital.
Link to ResearcherID: http://www.researcherid.com/rid/B-9416-2013
Link to My Citations (Google Scholar): http://scholar.google.com.br/citations?user=H4g6TDcA.
Link to My Bibliography: https://www.ncbi.nlm.nih.gov/myncbi/1r5I4Ybvtb9gve/bibliography/public/
Link to PubMed: https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopes-Cendes
Dr Mariela Larrandaburu, PhD is a Medical Geneticist, President of Latin American Network of Human Genetics-RELAGH. Her expertise is in clinical genetics, genetic epidemiology and public health. She has a Diploma in Human Genetics, in Children and Adults, University of the Republic of Uruguay, MSc and PhD in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Brazil. She is a Technical Advisor of the Disability and Rehabilitation Program of the Ministry of Public Health of Uruguay, and a Professor at the Catholic University of Uruguay in Medicine School. Selected to join WHO Technical Working group on Burden of Birth Defect (TWGBBD)
Alejandra Mampel MD Mgter
Medical Genetics -SAG certified
Master in Clinical Research UNCuyo
Professor of the FCMédicas UNCuyo
MD of the University Hospital UNCuyo
Member of the Family Cancer Program PROCAFA (Ministry of Health of the Argentine Nation)
Advisor to the Argentine Human Variome Project
Vicepresident 2nd Argentine Society of Genetics
Gabriela Repetto, MD, leads the Rare Diseases Program at the Institute of Science and Innovation in Medicine at Clinica Alemana Universidad del Desarrollo School of Medicine in Santiago, Chile.
She is a clinical geneticist, researcher, educator and advocate in rare diseases. She received her MD degree from P Universidad Catolica de Chile, did a residency in Pediatrics at the University of Wisconsin-Madison in the US, and a genetics fellowship at Children´s Hospital in Boston
www.pocofrecuentes.cl
( biosketch soon!)
( biosketch soon!)
SCIENTIFIC PROGRAM COMMITTEE
Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine.
Dr. Lee joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital. He is best known for his discovery that copy -- number variation - a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease—is widespread and significant in the human genome. This discovery, and his subsequent research, has provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands of genetic tests every year on conditions such as autism, birth defects and cancer.
Throughout his career, Dr. Lee has received numerous accolades and awards for his research into the human genome, including an Award from the American Association for Cancer Research and the 2008 Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), a 2014 Thompson Reuters Citation Laureate and is currently president of the Human Genome Organization (HUGO). In addition to his responsibilities at JAX Genomic Medicine, Dr. Lee is an adjunct professor at Xi’An Jiaotong University, Xi’An, China.
Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine, the Scientific Director of Online Mendelian Genetics in Man (OMIM). Dr. Hamosh received her BA in Biology from Wesleyan University, MD from Georgetown University, and MPH from Johns Hopkins School of Hygiene and Public Health. She completed a pediatrics residency and clinical and clinical biochemical genetics fellowship at Johns Hopkins Hospital. Dr. Hamosh has authored over 130 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including the International Rare Disease Research Consortium, the Human Variome Project, the ClinGen Project, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She will serve a two-year term as President of HUGO beginning in Spring 2023.
She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data for use in the CMG project that is freely available to all for clinical and research use, and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 14,000 submitters from 104 countries and >65,000 cases. Matches through GeneMatcher have resulted in >680 publications describing >500 novel disease genes. GeneMatcher is a founding member of the Matchmaker Exchange (MME). Dr. Hamosh serves on the steering committee of the MME and represents it on the steering committee of the GA4GH.
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