FACULTY MEMBERS

HERNÁN 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 long term experience in Argentina with ERT for Fabry, Pompe and MPS. He is author of over 40 publications including books, book chapters and peer review journal articles. He is currently Principal Investigator in clinical trials for LSDs and co-director of PREIEM, an intensive training program on Mucopolysacharidosis for Latinoamerican physicians. He is also member of the following international boards related to LSDs: Pompe Registry Latam and International Boards, HOS (Hunter Outcome Survey) Latam Board, HOS CNS Task Force, and MPS IT Therapy Advisory Board.

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 80 articles published in international journals, with a research productivity scholarship from CNPq level 2. 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.

MICHAEL BECK,

Mainz, Germany

Professor of Pediatrics and Genetics, University of Mainz, Germany. Former head of Lysosomal Storage Disorders at the Children's Hospital, University of Mainz and Head of the Biochemical Laboratory. Consultant at the Genetic Institute of the University of Mainz. Principal Investigator in a variety of clinical studies and trials in the field of Lysosomal Storage Disorders (Natural History, Enzyme Replacement Therapy). Organizer of the 3rd (1993) and 8th (2004) International Symposium on Mucopolysaccharidoses and Related Diseases. Author of more than 300 Articles, mostly in peer-reviewed international journals.

CARMEM BOMFIM, 

Curitiba, Brazil

Carmem Bonfim, MD, PhD, is the Head of the Pediatric Blood and Marrow Transplantation Program at the Hospital de Clinicas, Federal University of Parana, Curitiba, Brazil. Her major areas of interest are: Hematopoietic Stem Cell Transplantation (HSCT) for patients with Primary Immunodeficiencies, Inborn Errors of Metabolism and Inherited Bone Marrow Failure Syndromes. Dr Bonfim has also a special interest in newborn HSCT for selected genetic diseases detected after newborn screening and the use of alternative stem cell sources for pediatric transplantation (cord blood and haploidentical transplantation).

MAIRA BURIN,

Porto Alegre, Brazil

Pharmacist and Biochemist, with MsC and PhD in Biological Sciences-Biochemistry at Federal University of Rio Grande do Sul, Brazil. Senior Biochemist of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. Training periods in London (UK), Munich (Germany), Porto (Portugal), and Bethesda (USA).

LUIS FIGUEIRA,

Guadalajara, Mexico

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 at the Department of Genetics, Federal University of Rio Grande do Sul, and member of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. Is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP), Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America, 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).

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, USA

Joseph Muenzer, MD, PhD, is Professor of Pediatrics and Genetics in the Division of Genetics and Metabolism, Department of Pediatrics at the University of North Carolina at Chapel Hill, USA, where he has practiced since 1993. He is actively involved in the diagnosis, management and treatment of patients with inborn errors of metabolism, especially mucopolysaccharidosis (MPS). Dr Muenzer's clinical research is directed toward the development of enzyme replacement therapy (ERT) for MPS. He was a principal investigator for the recombinant enzyme replacement clinical trials for MPS I and MPS II. Dr Muenzer is currently a principal investigator for the Phase I/II and Phase II/III clinical trials evaluating intrathecal ERT for the severe form of Hunter syndrome.

GREGORY PASTORES, 

Dublin, Ireland

Gregory M. Pastores, MD. Consultant, Adult Metabolic Service, Department of Medicine/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland; Clinical Professor, Medicine (Genetics), University College Dublin, Ireland.

UMA RAMASWAMI,

London, UK

Uma Ramaswami is a Consultant in Inherited Metabolic Disorders based at the Lysosomal Disorders Unit (LSDU) at the Royal Free Hospital, London.

Uma is the Clinical Lead for the LSDU at Royal Free Hospital and the National Clinical Lead for the UK Paediatric Familial Hypercholesterolaemia Register. 

She is actively involved in transition services for young patients with inherited metabolic disorders from paediatric to adult centres. Uma is interested in utilising 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.

Uma’s research interest is mostly related to clinical research relating to understanding of the natural history and disease progression of metabolic disorders; and she is involved in a number of clinical trials in Inherited Metabolic Disorders.

She has many peer reviewed publications on inherited metabolic disorders, written book chapters for inherited metabolic disorders, she is a communicating editor for the journal of inherited metabolic disorders and peer reviews manuscripts for several metabolic journals.

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 Independent 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, USA

Director, Institute of Metabolic Disease, Baylor Research Institute, Dallas Texas.

Clinical Professor Texas A&M University.

Neurometabolic diseases, lysosomal diseases.

FILIPPO VAIRO,

Rochester, USA

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Filippo Vairo is a clinical geneticist and holds a Master degree in Medical Sciences and a PhD degree in Genetics and Molecular Biology. He is associate consultant in the Center for Individualized Medicine and in the Department of Clinical Genomics at Mayo Clinic. He is assistant professor of Medical Genetics in the Mayo Clinic College of Medicine and Science. He is one of the organizers of the Latin American School of Human and Medical Genetics and since 2008 he organizes the Advanced Course on Diagnosis and Treatment of Inherited Diseases. He is member of the Editorial Board of the Journal of Inborn Errors of Metabolism and Screening, and affiliated member of the Brazilian National Academy of Medicine. Since 2016, he is member of the Mayo Clinic Center for Individualized Medicine (CIM) Translational Genomics Program where he has been aiding in establishing several innovative techniques to assist in patient practice in the area of individualized medicine. Also, he is involved in developing and/or 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. He has experience in the area of clinical genetics, inborn errors of metabolism and lysosomal diseases, especially Gaucher and Fabry disease. 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 a Director of Research (grade equivalent to Full Professor), now emeritus, at the French Institute of Health and Medical Research (INSERM). Alongside this 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, neurolipidoses constitute her main focus of interest. She has authored over 200 articles in peer-reviewed journals and a number of book chapters. A significant part of her research work is related to Niemann-Pick disease type C, covering clinical, pathophysiological and diagnostic aspects, as well as participation in preclinical therapeutic studies. She is also working with several patients organizations, in France and internationally.