Scientific Board

 

Yukio Ando, MD, PhD

Kumamoto University
Kumamoto, Japan

Professor Yukio Ando is Professor and Chairman of the Department of Diagnostic Medicine, and Graduate School of Medical Sciences of Kumamoto University, Director of Laboratory Medicine and Vice President of Kumamoto University Hospital, Japan. He is also the Director of The Amyloidosis Research Committee, Research on Intractable Diseases, The Ministry of Health, Labour and Welfare, Japan. Professor Ando graduated from Kumamoto University School of Medicine in 1983, and started his clinical career in neurology and medicine at Kumamoto University Hospital in the same year. After receiving his PhD in 1991 (under the guidance of Professor Y. Morino and Professor S. Araki), he studied at the First Department of Internal Medicine, Kumamoto University School of Medicine, under the continued guidance of Professor S. Araki.

Between 1996 and 1998, Professor Ando performed basic and clinical studies on familial amyloid polyneuropathy (FAP) at the Department of Medicine, Umeå University, Sweden, as a visiting professor. Professor Ando has been awarded several prizes, including the Japanese Laboratory Medicine Prize, the Japanese Society of Neurological Therapeutics Prize, and an honorary PhD in Sweden. To date, he has published 280 articles, and 80 reviews, letters and book chapters.

 

Fabio Barroso, MD

Scientific Board

Institute for Neurological Research, FLENI
Montañeses 2325
Buenos Aires, 1428, Argentina

Dr Fabio Barroso is a neurologist at Raul Carrea Institute for Neurological Research, FLENI, in Buenos Aires, Argentina. His main areas of expertise include neuromuscular diseases and neurophysiology, with a special interest in hereditary amyloid neuropathies.

Dr Barroso graduated from Medical School at the National University of Rosario in 1994. After graduation, he completed a neurology residency and was Chief Resident of Neurology. He later continued his training in neuromuscular diseases and electromyography at Raul Carrea Institute for Neurological Research, FLENI.

In the past 3 years Dr Barroso has been collaborating with the THAOS registry through observations on transthyretin amyloid neuropathy subjects.

 

Teresa Coelho, MD

Scientific Board

Unidade Clinica de Paramiloidose Hospital Geral de Santo António
Porto, Portugal

Teresa Coelho, MD, is a Neurologist and Neurophysiologist at Santo António Hospital, Porto, Portugal, where clinical investigation led to the first description of familial amyloid polyneuropathy (FAP), published in Brain in 19521. Since 1997, Dr Coelho has been Head of the FAP Clinical Unit at Santo António Hospital. The FAP Clinical Unit is an outpatient, multidisciplinary clinic that is a Reference Centre for this disease. The hospital’s historical register includes more than 2,500 observed subjects from 600 families. More than 800 subjects are observed each year, including 80 newly diagnosed subjects.

Dr Coelho is also coordinator of the Neuromuscular Outpatient Clinic, Santo António Hospital, and the Principal Investigator of several pivotal clinical trials in transthyretin FAP.


  1. Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves Brain 1952;75:408–427.

 

Isabel Conceição, MD

Scientific Board

Hospital Santa Maria
Lisbon, Portugal

Isabel Conceição studied medicine at Lisbon Classical University, Lisbon, Portugal, and completed her general medical training in 1991 at Pulido Valente Hospital, Lisbon. She completed a Research Fellowship at Massachusetts General Hospital and Children’s Hospital, Boston, MA, USA, before going on to complete her residency in neurology in 1995 at the Neurology Department of Santa Maria Hospital, Lisbon. In 1997, Dr Conceição completed her degree in clinical neurophysiology. She is currently a Consultant in neurology and clinical neurophysiology at Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Lisbon.

Dr Conceição has a special interest in neuromuscular pathology, namely neuropathies, myopathies and myasthenia gravis. Her clinical practice focuses on neuromuscular outpatient care, electromyography and evoked potentials. She became Head of the Familial Amyloid Polyneuropathy outpatient unit, Hospital de Santa Maria, Lisbon, in 2004, and this site sees more than 300 FAP subjects and symptomatic carriers for clinical and neurophysiological follow up.

She is Vice President of the Portuguese Society of Neuromuscular Disorders and Treasurer of the Portuguese Society of EEG and Clinical Neurophysiology. She is also a member of the Portuguese Neurological Society, the EFNS Scientific Neuropathy Panel, the International Federation of Clinical Neurophysiology and the World Muscle Society.

 

Thibaud Damy, MD

Centre Hospitalier Universitaire Henri Mondor,
Paris, France

Professor Thibaud Damy qualified in medicine at the University of Paris XI in 1996. After a period of postgraduate cardiology training in several Parisian hospitals he specialised in heart failure and cardiomyopathy. Professor Damy obtained a PhD on the effect of nitric oxide on heart failure at the University Paris VII in 2004. He was appointed first as a Senior Registrar at Paris V University (2004), then at Paris XII (2005–2006) and subsequently took up a position in 2007 as a Senior Lecturer in Cardiology and Honorary Consultant Cardiologist at Henri Mondor Hospital, Creteil, France. In August 2008 he obtained a secondment for 16 months as a Senior Research Fellow at the Academic Cardiology Department of Professor John G Cleland at the Universityof Hull (UK). He was appointed Professor in Cardiology in 2011 and became the Head of the Heart failure and Cardiomyopathy unit.

In 2009, with Professor Violaine Planté-Bordeneuve he created the “Mondor Amyloidosis Network”, which involves all the clinical facilities for the diagnosis and treatment of amyloidosis in addition to a clinical research team. Professor Daniel Azoulay joined the network in 2010. Professor Damy’s main field of interest is amyloidosis, extending from its epidemiology and physiopathology through to its diagnosis and treatment. Particular current interests include early cardiac diagnosis markers from biology to imaging.

 

Angela Dispenzieri, MD

Scientific Board

Mayo Clinic
Rochester, MN, USA

Dr Dispenzieri is a Professor of Medicine and of Laboratory Medicine at the Mayo Clinic in Rochester, MN, USA. The Mayo Clinic is home to a database and biobank from more than 6000 patients with amyloidosis. She is president-elect of the International Society of Amyloidosis and she is the treasurer for the International Myeloma Society.

Dr Dispenzieri serves as the Research Chair for the Division of Hematology at the Mayo Clinic and has been an author or co-author on over 300 manuscripts and book chapters in the field of plasma cell disorders, including multiple myeloma, immunoglobulin light chain amyloidosis, and POEMS syndrome.

 

Bo-Göran Ericzon, MD

Scientific Board

Karolinska Institutet, University Hospital Huddinge
Stockholm, Sweden

Bo-Göran Ericzon received his MD at the Karolinska Institutet, Stockholm, Sweden, in 1978, and joined the transplant team at the Karolinska Institutet in 1984. Shortly thereafter, Professor Ericzon took a clinical and research fellowship at the University of Pittsburgh, Pennsylvania, PA, USA. In 1993, he obtained his PhD from the Karolinska Institutet with a thesis entitled “Studies on the immunosuppressive and metabolic effects of FK506 in monkey and man”. Since 2000, he has been Professor and Head of the Division of Transplantation Surgery, Department of Clinical Sciences, Intervention and Technology (CLINTEC) at the Karolinska Institutet.

Professor Ericzon’s main research interest is related to liver transplantation for metabolic liver disorders and, in 1990, he became the first in the world to treat a patient with familial amyloid polyneuropathy (FAP) using liver transplantation. Another important field of research currently under evaluation is liver transplantation in combination with allogenic bone marrow transplantation for the treatment of advanced cancers. Professor Ericzon’s team also introduced microdialysis as a research and monitoring tool following liver transplantation. Recently, an important focus of his research has been hepatocyte transplantation. In 2008, Professor Ericzon’s team performed the first hepatocyte transplantation in Scandinavia.

Professor Ericzon is the author of more than 200 peer-reviewed publications and book chapters, and he is also a member of several international scientific committees. Between 1997 and 1999, he was the president of the European Society of Organ Transplantation (ESOT).

 

Natália Ferreira

Ophthalmologist, Portugal

 

Alejandra González-Duarte, MD

Scientific Board

Neurology Department
Instituto Nacional de Ciencias Médicas y Nutrción Salvador Zubiran, Neurology Department
Vasco de Quiroga 15 Sección XVI
Tlalpan 14000 México D.F

Alejandra González-Duarte was born in Mexico City and holds degrees in Medicine, Internal Medicine and Neurology. She continued her education in New York City, USA with a post-doctoral fellowship in neuroinfectious diseases and a post-doctoral fellowship in autonomic disorders.

She currently works as a researcher in the Instituto Nacional de Nutrición Salvador Zubirán in Mexico City, where she coordinates the laboratory dedicated to the study of autonomic and small fiber neuropathy. She is also responsible for a cohort of 80 subjects with FAP.

 

Martha Grogan, MD

Scientific Board

Mayo Clinic, Rochester
Minnesota, USA

Martha Grogan is Consultant at the Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota and Assistant Professor of Medicine, Mayo Clinic College of Medicine.

Dr Grogan graduated in biology at the University of Cincinnati, Ohio in 1976, and then obtained an MD at the Northwestern University Medical School in Chicago, Illinois in 1984. This was then followed by an internal medicine residency and a cardiology fellowship at the Mayo Graduate School of Medicine, Rochester, Minnesota. She has also served as Medical Director of the Federal Medical Center, Rochester, Minnesota, a US Bureau of Prisons tertiary care center (fulfilling a National Health Service Core Scholarship program commitment), and briefly practiced in the Kaiser Sunnyside Medical Center, Clackamas, Oregon.

Dr Grogan’s practice has focused on cardiac amyloidosis, heart failure, adult congenital heart disease and echocardiography. She is Founder and Director of the Cardiac Amyloid Clinic at the Mayo Clinic. Dr Grogan is Principal Investigator for several TTR cardiac amyloid clinical trials and her center had the highest US enrolment in both the ATTR-ACT and ENDEAVOUR trials.

 

Denis Keohane, MD

Pfizer inc.
New York, NY, USA

Denis J. Keohane MD, MS obtained his medical degree from Hahnemann University School of Medicine in Philadelphia, PA in 1992. He completed his residency in Internal Medicine at Brown University in Providence, RI in 1995 followed by a fellowship in General Internal Medicine/Health Services Research at Cornell University Medical College resulting in a Master of Science degree in Clinical Epidemiology in May 1997. After completing his fellowship, Dr Keohane took a position as Assistant Professor in the Division of Geriatrics and Gerontology at Weill Medical College of Cornell University where he worked until 2001. Dr Keohane joined Pfizer in June 2001 and has worked within the Neuroscience space holding a variety of roles since then. He is currently the Global Medical Affairs Lead for the tafamidis team within the Rare Disease Group in the Global Innovative Pharma business unit of Pfizer. Dr Keohane serves as the Pfizer representative on the THAOS Scientific Board.

 

Arnt Kristen, MD

Scientific Board

Medical University of Heidelberg
Heidelberg, Germany

Arnt Kristen studied medicine at the Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany, from 1995 to 2001, obtaining his MD in 2001. He completed his residency in internal medicine at the Department of Internal Medicine, University Hospital, Heidelberg, Germany. He received board certification for Internal Medicine and Cardiology in 2008 and 2010, respectively. Dr Kristen currently works as a Cardiologist at the Heidelberg Heart Center and Heidelberg Amyloidosis Center at the University of Heidelberg.

Dr Kristen’s scientific and clinical focus is on cardiomyopathies and rare diseases, as well as the management and treatment of these disorders, including with heart transplantation. His particular emphasis is on cardiac amyloidosis, and another clinical interest is the field of interventional cardiology.

Dr Kristen is a member of the German Society of Cardiology and the German Society for Amyloid Diseases, and is also a scientific board member of the Transthyretin Amyloidosis Outcomes Survey (THAOS). He is author of 50 peer-reviewed publications in national and international journals with focus on risk stratification and novel treatment of cardiac amyloidosis

 

Mathew Maurer, MD

Scientific Board

Columbia-University Medical Center
New York Presbyterian Hospital
622 West 128th Street
New York, NY 10032

Dr Maurer is a general internist and geriatric cardiologist with advanced training in heart failure and cardiac transplantation. He is an Associate Professor of Clinical Medicine at Columbia University, College of Physicians and Surgeons, where he directs the Clinical Cardiovascular Research Laboratory for the Elderly (CCRLE) at Allen Hospital of the New York Presbyterian Hospital System, which was the first US site in the THAOS registry. Dr Maurer is also member of the Center for Advanced Cardiac Care at New York Presbyterian Hospital – Columbia Campus.

Dr. Maurer received a B.S. in biomedical science as part of the 7-year medical school program at CCNY – The Sophie Davis School of Biomedical Education, where he was awarded the Belle Zeller Scholarship. He received his MD degree from Mount Sinai School of Medicine and graduated Alpha Omega Alpha. He completed training in internal medicine and cardiology at New York Presbyterian Hospital and was Chief Medical Resident.

Dr Maurer’s work focuses on evaluating age related changes in cardiovascular physiology in order to elucidate the mechanisms that underlie the higher prevalence and incidence of cardiovascular disease in older individuals. Much of his recent work is centred on cardiac amyloidosis. In addition to his work on THAOS, he is the Principal Investigator of several studies including investigating therapy in TTR-CM and investigator-initiated studies seeking to identify diagnostic tools for TTR using SPECT scanning and serum analysis.

 

Anna Mazzeo, MD

Scientific Board

U.O. di Neurologia e Malattie Neuromuscolari
AOU Policlinico G. Martino
Via Consolare Valeria
98125 Messina, Italy

Anna Mazzeo, MD, is currently a Research Fellow at the Department of Neuroscience, Unit of Neurology and Neuromuscular Disease, Azienda Ospedaliera-Universitaria (AOU) Policlinico Universitario, Messina, Italy. Between 1997 and 1998, Dr Mazzeo was Research Fellow at the Royal Free Hospital, London, and University College Medical School, University College London, London, where she worked in the field of polyneuropathies and neurodegenerative disorders.

Dr Mazzeo has a special interest in genetic and acquired neuropathies and autonomic neuropathies, namely familial amyloid polyneuropathy (FAP). She also has an interest in neuromuscular disorders, spinal muscular atrophies and cytoskeletal proteins of the peripheral nerves.

She is a member of the Italian Association of Neuropathy, the Italian Society of Neurology, and an executive board member of the Italian Association of Peripheral Nervous System Study, “Associazione Italiana per lo studio sul Sistema Nervoso Periferico (ASNP)”. Dr Mazzeo has published over 50 papers in well-respected journals.

 

Violaine Planté-Bordeneuve, MD, PhD

Scientific Board

Service de Neurologie
CHU Henri Mondor
51 Avenue du Maréchal de Lattre de Tassigny
94000 Créteil, France

Violaine Planté-Bordeneuve received an MD in neurology from Université Paris VI-UER., Broussais-Hôtel Dieu, Paris, France, in 1991. Following this, she undertook a Research Fellowship in the Department of Molecular Genetics under the guidance of Professor AE Harding at the Institute of Neurology, London, UK. Between 1993 and 1996, she was a Senior Registrar at the Department of Neurology CHU, Bicêtre, Paris, where she later became an Associate Professor. In 2001, Professor Planté-Bordeneuve received a PhD in biochemistry and molecular biology. Since 2007, she has been a Professor of Neurology at the Department of Neurology, CHU Henri Mondor, Créteil, France where she set up a network dedicated to amyloidosis.

Professor Planté-Bordeneuve’s main research interests include genetic studies of familial Parkinson’s disease, genotypic correlations in Charcot-Marie-Tooth disease and other rare inherited peripheral neuropathies (e.g. mitochondrial disorders), clinicopathological aspects of peripheral neuropathies (e.g. diabetic neuropathies or chronic inflammatory demyelinating neuropathies) and genetic studies, genotypic–phenotypic correlations, genetic epidemiology and therapeutic approaches in transthyretin familial amyloid neuropathy (TTR-FAP).

Professor Planté-Bordeneuve is a member of the European Society of Neurology and the Société Française de Neurologie. She is a member of the editorial board for the Journal of Neurology (since January 2013). Over the past 5 years, Professor Planté-Bordeneuve has published more than 15 research articles on familial amyloid polyneuropathy.

 

Claudio Rapezzi, MD, Chair of the THAOS Scientific Board

Scientific Board

Instituto di Cardiologia, PAD 21
Universita di Bologna
Policlinico S. Orsola-Malpighi
Via Massarenti 9, 40138
Bologna, Italy

Claudio Rapezzi is Associate Professor of Cardiology at the University of Bologna and Director of the Cardiology Unit, Cardiovascular and Thoracic Department, University Hospital S. Orsola-Malpighi, Bologna.

His main areas of scientific interest are systemic amyloidosis, cardiomyopathy pathophysiology, aortic diseases, heart failure, echocardiography and electrocardiography.

He has published approximately 400 publications in national and international journals, books and congress proceedings.

 

Hartmut Schmidt, MD

Universitätsklinikum Charité
Berlin, Germany

Professor Hartmut Schmidt studied Human Medicine at the University of Hannover, Germany, graduating with a 1st in his degree in 1988. This was followed by fellowships in the Department of Gastroenterology and Hepatology in Hannover under both Professor FW Schmidt and Professor MP Manns. In 1995 Professor Schmidt was awarded a degree as a Medical Doctor in Emergency Medicine. Since 2005 he has been the Head of the Division of Transplant Hepatology at Universitätsklinikum Münster, Germany, where he is Professor of Internal Medicine.

Professor Schmidt is a member of many regional and international societies, and has served on the Board of Directors of the German Society for Amyloidosis since 2002 and on the International Society of Amyloidosis since 2006.

He has received many prizes and grants for his research and has been involved with numerous clinical studies on transthyretin amyloid polyneuropathy, including the Fx-005 open-label and open-label extension studies.

 

Yoshiki Sekijima

Shinshu University
Nagano, Japan

Yoshiki Sekijima graduated with an MD from Shinshu University School of Medicine, Japan, in 1991, where he later obtained a PhD in Neurology in 1998. He is currently Associate Professor at the Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine. Dr Sekijima’s main areas of expertise include neuromuscular diseases and clinical genetics. He also has a special interest in ATTR amyloidosis. From 2002 to 2004, he worked as a postdoctoral fellow at Professor Jeffery W. Kelly’s Lab, Scripps Research Institute, La Jolla, CA, USA, where he investigated the molecular pathogenesis of ATTR amyloidosis alongside associated therapeutic strategies. He is a board member and Secretary General of the Japan Amyloidosis Research Society.

 

Fabian aus dem Siepen, MD

Scientific Board

University of Heidelberg
Heidelberg, Germany

Fabian aus dem Siepen is a Medical Resident in the Department of Internal Medicine III (Cardiology, Angiology and Pneumology) at the University of Heidelberg, Germany. Prior to this he underwent his Medical Internship at the same centre.

He studied medicine at Ruprecht-Karls-Universität from 2008 to 2014, during which time he completed a doctoral thesis on ‘Non-invasive tissue characterization using cardiovascular magnetic resonance imaging’ at the University of Heidelberg, with Dr H. Steen.

In addition to his doctoral thesis, he has research interests in cardiac amyloidosis which he pursues with Dr Arnt Kristen at the University of Heidelberg.

 

Ole Suhr, MD, PhD

Scientific Board

Umeå University Hospital
Umeå, Sweden

Ole Suhr graduated as MD from the University of Copenhagen, Denmark, in 1976, and obtained a PhD in gastroenterology, in 1990, from Umeå University Hospital, Sweden. He is currently Chief Physician and Gastroenterologist at the Department of Medicine and Head of the Amyloid team at the Umeå University Hospital.

Professor Suhr has participated in many clinical trials for hereditary transthyretin (TTR) amyloidosis, and a Phase I trial of TTR-gene silencing. In 1999, Professor Suhr was the President of the 4th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders and the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy. Professor Suhr was also a member of the Euramy Consortium for the investigation of amyloid disease between 2006 and 2009. He is currently a member of the advisory board for the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR) and member of the Swedish Gastroenterologist Association, the Swedish Medical Association, the International Amyloid Society and the editorial board for the journal Amyloid. He has published 140 articles and 50 reviews, letters and book chapters.

 

Márcia Waddington-Cruz, MD, PhD,
THAOS Chair

Scientific Board

Hospital Universitario Clementino Fraga Filho
Rio de Janeiro, Brazil

Márcia Waddington-Cruz, MD, PhD is Chief of the Neuromuscular Diseases Unit at the University Hospital, Federal University of Rio, Brazil. Dr Waddington-Cruz has been overseeing the Familial Amyloid Polyneuropathy (FAP) patient care clinic (CEPARM, www.ceparm.com) at the hospital for over 20 years. The first liver transplant was performed in Rio de Janeiro in 1997, and Dr Waddington-Cruz is providing care for nearly 100 FAP subjects, both before and after transplantation.

Dr Waddington-Cruz is participating in several research programs to evaluate the incidence of FAP in Brazil and the genetic profile of the disease among Portuguese and Brazilian families. She is actively involved in several clinical trials to study potential therapies for FAP. Dr Waddington-Cruz has enrolled 97 subjects in the THAOS international disease registry, to help clinicians and subjects better understand this disease and aid in the diagnosis and treatment of amyloidosis.

Dr. Waddington-Cruz works with the Amyloidosis laboratory at the Biochemistry Institute of the Federal University of Rio de Janeiro directed by Professor Débora Foguel, PhD (LAPA www2.bioqmed.ufrj.br ), and with Sonda Genetic Laboratory directed by Prof. Franklin David Rumjanek (www.bioqmed.ufrj.br), aiming to better understand the genetic profile of FAP in the Brazilian population and to correlate it with several clinical phenotypes and biomarkers of disease severity.

Dr. Waddington-Cruz also works with Prof. José Manoel de Seixas, PhD at COPPE/ Electrical Engineering Program at the Federal University of Rio de Janeiro (www.coppe.ufrj.br), and is intending to use multilayer neural networks to create a FAP score, using cardiac, neurologic, neurophysiologic, nephrologic and systemic parameters based on the THAOS database.

 

Jonas Wixner, MD

Scientific Board

Umeå University Hospital
Umeå, Sweden

Jonas Wixner studied medicine at Uppsala University, Sweden and was awarded his MD in 2006. He completed his dissertation on "Gastrointestinal disturbances in hereditary transthyretin amyloidosis" in 2014 and thereby obtained a PhD in Gastroenterology at Umeå University, Sweden. In 2014 he also completed his residency at Umeå University Hospital and is now a specialist in Internal Medicine.

Dr Wixner is currently working at the Department of Medicine and Gastroenterology at Umeå University Hospital and, since 2009, he is part of the Swedish ATTR amyloidosis Reference Center in Umeå. He is also a member of the Swedish Gastroenterologist Association and has published a number of articles on the subject of transthyretin amyloidosis, with special focus on the gastrointestinal complications of the disease.

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