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 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 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 (In Memoriam)

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 BONFIM, 

Curitiba, Brazil

Carmem Bonfim, MD, PhD, is the Head of the Pediatric Blood and Marrow Transplantation Program at Hospital Pequeno Principe, Professor at the Pele Pequeno Principe Research Institute and at the Federal University of Parana in Curitiba, Parana, Brazil. Her major areas of interest are- Hematopoietic Cell Transplantation (HCT) for patients with Inherited and Acquired Bone Marrow Failure Syndromes, Inborn Errors of Metabolism, Primary Immunodeficiencies, and the use of haploidentical HCT with the post-transplantation cyclophosphamide platform for nonmalignant diseases. She is the vice-president for the Latin American Bone Marrow Transplantation Group (LABMT) and is involved in collaborations with CIBMTR (Center for International Blood and Marrow Transplant Research) and EBMT (European Group for Blood and Marrow transplantation). Dr. Bonfim has also a deep interest in international issues related to HCT, especially in developing countries.

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. Training periods in London (UK), Munich (Germany), Porto (Portugal), and Bethesda (USA).
Senior Biochemist of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil from 1991 to 2022.

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 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).

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 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, USA

Clinical Professor Texas A&M University.
Professor in the Department of Internal Medicine, Texas Christian University.
Senior VP and Therapeutic Area Head, 4D Molecular Therapeutics, Emeryville, California, USA.

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 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.