SEPTEMBER 23-27, 2024, FOZ DO IGUAÇU, BRAZIL
FACULTY
HERNAN AMARTINO,
Buenos Aires, Argentina
Medical Doctor graduated at Universidad de Buenos Aires, Argentina, specialized in Pediatric Neurology. Head of Child Neurology Department at Hospital Universitario Austral. Buenos Aires. Argentina. Dr Amartino was trained in the field of inborn errors of metabolism at the Laboratorio de Neuroquimica by Dr Nestor Chamoles, in Buenos Aires. He has pioneer and long term experience in Argentina diagnosing and treating all LSDs. He is currently Principal Investigator in clinical trials for LSDs and Director of Postgraduate Course on Inborn Errors of Metabolism at Univesidad Austral, Argentina. He is member of HOS (Hunter Outcome Survey) Steering Comitee and also member of international advisory boards related to the following LSDs: Pompe Disease, Fabry disease, MPS IVA, MPS VI, NPC, MLD and Krabbe disease. He is author of over 50 publications including books, book chapters and peer review journal articles. He is one of the co-founders and member of the scientific commitee of LACLSD.
GUILHERME BALDO,
Porto Alegre, Brazil
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Professor at the Federal University of Rio Grande do Sul (UFRGS), working on the development of innovative treatments for rare genetic diseases, especially focused on gene therapy and genome editing. He has more than 100 articles published in international journals, with a research productivity scholarship from CNPq level 1D. Professor of the Graduate Programs in Physiology and in Genetics and Molecular Biology at UFRGS, having supervised 15 master's and doctoral thesis (in progress or completed). Speaker of courses and events in the country and abroad dealing with advanced therapies
LUIS FIGUEIRA,
Guadalajara, Mexico
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MD degree obtained at Universidad de Oriente, Venezuela, and PhD degree at Universidad de Guadalajara, México. Post-Doctoral training at Baylor College of Medicine, Houston, Texas. Chairman of the Department of Genetics, Instituto Mexicano del Seguro Social, Guadalajara, Mexico. Professor at the PhD Program of Human Genetics, Universidad de Guadalajara, Mexico.
ROBERTO GIUGLIANI,
Porto Alegre, Brazil
Professor of Genetics and Molecular Biology at Federal University of Rio Grande do Sul, and member of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. Is President of the Administrative Council of Casa dos Raros, and Head of Rare Diseases at DASA Genomics. Is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP), Chairman of the Latin American School of Human and Medical Genetics, and Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening. Is past-President of the Latin American Network of Human Genetics (RELAGH), Brazilian Society of Medical Genetics (SBGM) and Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN).
NATALIA GOMEZ-OSPINA,
Palo Alto, CA, USA
Dr. Gomez-Ospina was born and raised in Medellin, Colombia. She began her undergraduate studies in petroleum engineering at the Universidad Nacional de Colombia before moving to Colorado. She double majored at the University of Colorado Boulder, completing her bachelor’s degree in Molecular Cellular and Developmental Biology as well as Biochemistry. She graduated summa cum laude and wrote an honors thesis entitled “Role of the quiescent center in the regeneration of the root cap in Zea Mays.” She then completed her combined MD, PhD at Stanford Medical School, where her PhD work focused on understanding the novel functions of voltage-gated calcium channels. Her PhD thesis, “The calcium channel CACNA1C gene: multiple proteins, diverse functions,” was published in Cell. After completion of her dual degrees, she did her preliminary year in internal medicine at Santa Barbara Cottage hospital before starting residency in Dermatology at Johns Hopkins Hospital. She completed residency in Medical Genetics at Stanford Hospital and clinics.
Her post-doctoral research was with Dr. Matthew Porteus in Pediatric Stem Cell transplantation, where she began to develop genome editing-based strategies in stem cells as a therapies for metabolic diseases. She is currently an Assistant Professor in the Department of Pediatrics. For her clinical practice she sees patients with suspected genetic disorders, and is also in charge of the enzyme replacement service for lysosomal storage disorders at Lucile Packard Children’s hospital. She has been the lead author in research studies in The New England Journal of Medicine, Cell, Nature Communications, and American Journal of Medical Genetics.
FRANCYNE KUBASKI,
Greenwood, SC, USA
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Francyne Kubaski, MSc, PhD, is a Staff Scientist at the Biochemical Genetics Laboratory at the Greenwood Genetic Center, USA. She is actively working on the development of novel methods for the diagnosis of inborn errors of metabolism with a major focus on lysosomal disorders by tandem mass spectrometry. Dr. Kubaski is also interested in developing novel methods for biomarker analysis that can aid diagnosis, prognosis, treatment monitoring, and that can also be used as surrogate markers in clinical trials. Dr. Kubaski also has experience with newborn screening for lysosomal disorders.
JOSEPH MUENZER,
Chapel Hill, NC, USA
Joseph Muenzer, MD, PhD, is the Bryson Distinguished Professor in Pediatric Genetics and a Professor in the Department of Pediatrics and Department of Genetics at the University of North Carolina at Chapel Hill, where he has practiced since 1993. He received an MD (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, OH. He completed a residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, NIH, in Bethesda, MD. Dr. Muenzer is the Director for the recently created Joseph Muenzer MPS Research and Treatment Center at the University of North Carolina at Chapel Hill.
Dr. Muenzer is involved in the diagnosis, management, and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses (MPS) and newborn screening for MPS I and MPS II. He is board certified in Pediatrics and in Clinical Biochemical/Molecular Genetics. He has been actively involved in developing new treatments for MPS disorders his entire professional career. He has created a mouse model for Hunter syndrome (MPS II) that has been widely used to develop new treatment for MPS II. He has been a principal investigator (PI) for IV enzyme replacement clinical trials (ERT) for both MPS I and MPS II resulting in FDA approval. His recent clinical research has focused on the development of new treatments for the brain disease in MPS. Dr. Muenzer was the PI for Phase I/II and Phase II/III intrathecal enzyme replacement clinical trials for severe MPS II and now the post-trial access PI. He has been the principal investigator for >20 MPS clinical trials/observational studies. Dr. Muenzer is currently the PI for a Phase I/II gene editing clinical trial for MPS II and a Phase I/II and phase II/III IV ERT clinical trials to treat the brain disease in MPS II.
GREGORY PASTORES,
Dublin, Ireland
Gregory M. Pastores is Clinical Professor Emeritus, Medicine (Genetics) at the University College Dublin, Ireland. He graduated from the University of Sto. Tomas in Manila, and trained in Genetics at the Mayo Clinic (Rochester) and Mount Sinai Hospital (New York). Prior to coming to Ireland, he was a faculty member at Mount Sinai School of Medicine and then at New York University. He has been involved in several clinical trials, including the evaluation of enzyme replacement and substrate reduction, and the use of pharmacologic chaperone. He has published several articles and books, including the recent volume Neurogenetics for the Practitioner (2024).
CARLOS E. PRADA
Chicago, IL, USA
Dr. Prada finds it an honor to work with children, adults, and families with genetic diseases. His clinical work focuses on improving health for individuals with rare diseases by developing individualized and integrated care across specialties to promote their wellbeing. For 6 years, he co-led the RASopathies program at Cincinnati Children’s Hospital to develop a care-based model on genetic pathways. He has conducted randomized clinical trials of lysosomal storage disorders, neurofibromatosis type 1, RASopathies, mTORopathies, and several natural history studies of genetic disorders in partnership with family groups and foundations.
An author of over 60 publications, Dr. Prada has been the principal investigator on numerous federal and foundation grants, including grants from the Department of Defense (DoD), National Institute of Neurological Disorders and Stroke (NINDS), and the American College of Medical Genetics and Genomics (ACMG). He is the principal investigator for a large effort to develop novel biomarkers of tumor progression in neurofibromatosis type 1.
Dr. Prada served as the Associate Editor for the American Journal of Medical Genetics. He has an interest in international medicine and collaborates with the Cardiovascular Foundation of Colombia and Dominican Republic.
As an advocate in genetics, he is passionate to help build connections between families with rare genetic disorders to help develop foundations for future research and improve our understanding of disease and potential therapeutics. Educating the new generation of clinical and biochemical geneticists has been an area of focus. Dr. Prada has mentored numerous trainees who are now independent researchers and clinicians.
UMA RAMASWAMI,
London, UK
Uma is a Consultant in Inherited Metabolic Disorders, Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London and honorary Associate Professor at Genetics and Genomics Medicine UCL. She also leads the Royal Free Hospital lysosomal disorders transition service from pediatrics to adults. Uma has a special interest in clinical research relating to understanding of the natural history and disease progression of inherited metabolic disorders and has been a principal investigator for many pivotal clinical trials for lysosomal disorders. Uma is interested in utilizing technology such as telecommunication and apps to monitor and improve health care.
Uma is a passionate faculty member involved in many inherited metabolic disorders educational and training initiatives in developing countries. She has many peer reviewed publications on inherited metabolic disorders, National Institute of Clinical Excellence (NICE) Topic Expert, Communicating Editor for Journal of Inherited Metabolic Disorders (JIMD), peer reviews for many journals and authored book chapters in Inherited Metabolic Disorders, teaching faculty and personal tutor for 4th to 6th year medical students at UCL, and an invited speaker at National and International conferences, including lysosomal patient organizations led conferences.
PAULA ROZENFELD,
La Plata, Argentina
Dr Rozenfeld holds a degree in Biochemist and a PhD degree in the field of immunology, both from the National University of La Plata (UNLP), Argentina. At her postdoctoral work she began to work on lysosomal disorders. She works at Institute for Study of Immunology and pathophysiology (IIFP), UNLP-CONICET, La Plata, Argentina. She is Principal Researcher of CONICET, the National Council of Research in Argentina. She is the director of DIEL, a lab service for diagnosis of lysosomal disorders for patients from Argentina and other Latin-American countries. Her current research interests focus on the pathophysiology of immune system in lysosomal disorders. Since 2003, she has consulted, conducted research, provided diagnosis, written scientific papers and lectured in the area of lysosomal disorders.
RAPHAEL SCHIFFMANN,
Dallas, TX, USA
Raphael Schiffmann MD, MHSc, FAAN is an expert on neurometabolic diseases. Dr. Schiffmann currently is a Professor in the Department of Internal Medicine, Texas Christian University. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. Dr. Schiffmann has published 288 peer-reviewed research articles and over 15 book chapters.
Bibliography: https://scholar.google.com/citations?user=ZRmqVIgAAAAJ&hl=en
FILIPPO VAIRO,
Rochester, MN, USA
Filippo Vairo is an Associate Consultant in the Department of Clinical Genomics and in the Center for Individualized Medicine (CIM) at Mayo Clinic where he is the Medical Director of the Program for Rare and Undiagnosed Disease (PRaUD) bridging clinical and translational research across various departments and divisions, focusing on genetics and rare diseases. Also, he is Associate Professor of Medical Genetics at the Mayo Clinic College of Medicine and Science. He is the Associate Director of the Translational Omics Program (TOP) where he has been aiding in establishing several innovative techniques to assist patient practice in individualized medicine. Also, he is involved in developing and implementing novel methodologies for the identification of genetic variation causing disease and to functionally validate variant pathogenicity to ultimately increase the number of patients receiving a genetic diagnosis. Dr Vairo is one of the PIs of the Undiagnosed Disease Network (UDN) Mayo Clinic Diagnostic Center of Excellence. He is part of expert panels in lysosomal and kidney diseases within ClinGen, a NIH-funded resource aimed at defining the clinical relevance of genes and variants and he is also part of the National Organization for Rare Diseases (NORD) Data Sharing Working Group which aims at establishing the best practices and facilitate data sharing in the rare disease space to increase the number of diagnosed patients. He is member of the Editorial Board of the Journal of Inborn Errors of Metabolism and Screening, the Genetics and Molecular Biology journal, and affiliated member of the Brazilian National Academy of Medicine. He has experience in the area of clinical genetics, inborn errors of metabolism, lysosomal diseases, and precision medicine. Dr Vairo’s research interests include new diagnostic tools and translational medicine.
MARIE VANIER,
Lyon, France
Marie T. Vanier, MD, PhD, received her university degrees and medical training in Lyon, France, and Göteborg, Sweden. She is Director of Research (grade equivalent to Full Professor) Emeritus at the French Institute of Health and Medical Research (INSERM). Alongside her INSERM position, she was for over 30 years the Head of a laboratory offering diagnostic services for lysosomal and peroxisomal diseases at Lyon University Hospitals. Among lysosomal diseases, sphingolipidoses and allied disorders have constituted her main focus of interest. She has authored over two hundred articles in peer-reviewed journals, and numerous book chapters. A significant part of her research work is related to Niemann-Pick diseases - both ASMD and NPC, although more particularly the latter. It covers clinical, pathophysiological and diagnostic aspects of these disorders. She has also participated in clinical guidelines related to NPC and ASMD, and she has been a member of the French Committee for Evaluation of Treatment of Lysosomal Diseases (CETL) since its beginning, in the late 1990s. Over the years, she has been working with several patients’ organizations, in France and internationally, and still collaborates very closely with some of them.
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