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EAS Advanced Course – Rare Lipid Disorders, from Lisbon
About This Webinar
We are delighted to invite you to this EAS Advanced Course in Rare Lipid Disorders, organised in collaboration with the Sociedade Portuguesa de Aterosclerose (SPA) by Drs João Sequeira Duarte & Francisco Araujo, Lisbon, Portugal
The aim of the course is to examine rare genetic disorders of lipid metabolism. While the prevalence of these individual disorders is low, collectively they are important and the busy specialized practitioner will encounter patients with these conditions. Lipidologists need to be familiar with their diagnosis and treatment as they may be associated with high morbidity and mortality.
Our expert faculty will each give a 20-min presentation on their specialist topic, after which there will be Q&A with the audience.
Photo copyright: Alexander Spatari
Agenda
- 30 min || Take the pre-course evaluation (multiple choice questions)
- 10 min || Welcome and opening remarks
- 20 min talk || Diagnostic tools for rare diseases in lipoprotein metabolism – Prof. Mafalda Bourbon – Lisboa, Portugal
- 20 min talk || What can we learn from rare diseases? Clinic and Lab crosstalks in lipidology – Dr. Francisco Araujo – Lisboa, Portugal
- 20 min talk || Lipodistrophies with dyslipidemia – Prof Paula Freitas – Porto, Portugal
- 20 min talk || Extremely high triglycerides – Dr. Sequeira Duarte – Lisboa, Portugal
- 20 min talk || Lysosomal acid lipase deficiency (LALD) – Prof. Patricio Aguiar – Lisboa, Portugal
- 20 min talk || Lp(a) implications and solutions – Prof. Børge G. Nordestgaard – Copenhagen, Denmark
- 20 min talk || Extreme HDL: low and high – Prof. Alberico L. Catapano – Milano, Italy
- 20 min talk || Sitosterolemia and other FH like phenotypes – Prof. Shailesh Patel – University of Cincinnati – USA
- 10 min || Concluding remarks
- Take the post-course evaluation (multiple choice questions)
Who can view: Everyone
Webinar Price: Free
Featured Presenters
Dr
Lisbon, Portugal
Sequeira Duarte graduated at Lisbon University Nova Medical School in 1980 and completed his trainee in as Endocrinologist in 1990 at Serviço de Endocrinologia do Hospital de Egas Moniz, Lisbon where is the director since 2019.
Dr Duarte's main interest areas are Obesity and bariatric surgery, Metabolic Syndrome, Diabetes and its complications. Pituitary tumours.
Dr Duarte the president of Portuguese Aterosclerotic Society since 2021.
Has published 12 articles in national and international peer-reviewed journals and presented more than 150 communications in national and international conferences and meetings.
Sequeira Duarte graduated at Lisbon University Nova Medical School in 1980 and completed his trainee in as Endocrinologist in 1990 at Serviço de Endocrinologia do Hospital de Egas Moniz, Lisbon where is the director since 2019.
Dr Duarte's main interest areas are Obesity and bariatric surgery, Metabolic Syndrome, Diabetes and its complications. Pituitary tumours.
Dr Duarte the president of Portuguese Aterosclerotic Society since 2021.
Has published 12 articles in national and international peer-reviewed journals and presented more than 150 communications in national and international conferences and meetings.
Prof
Lisbon, Portugal
Mafalda Bourbon, completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She is currently the coordinator of the R&D Unit and Head of the Cardiovascular Research Group at the Department of Health Promotion and Prevention of non-Communicable Diseases. There she is also the coordinator of the Portuguese Familial Hypercholesterolaemia Study and invited Professor at Universidade de Lisboa Faculdade de Ciências and integrated member of the BioSystem and Integrative Sciences Institutte (BioISI).
Prof Bourbon is the Chair of the Familial Hypercholesterolaemia Variant Curation Expert Panel at Clinical Genome Resource and the National lead Investigator of 2 international FH registries (FH Studies Collaboration and International Children FH Registry). She is a board member of the Iberoamerican FH network. She also participates in the 1 Million Genomes Initiative in the country mirror groups on sequencing and interpretation standards and complex disorders and is part of the Public Health Group at FH Europe, a patients association initiative.
Prof Bourbon's main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH), developing and applying methods to identify, functionally characterize and interpret variants found in clinical FH patients and other dyslipidaemia patients. She is also working on a personalized medicine model for FH. She published more than 50 peer review articles in international scientific journals and 2 book chapters. She received 3 scientific awards.
Mafalda Bourbon, completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She is currently the coordinator of the R&D Unit and Head of the Cardiovascular Research Group at the Department of Health Promotion and Prevention of non-Communicable Diseases. There she is also the coordinator of the Portuguese Familial Hypercholesterolaemia Study and invited Professor at Universidade de Lisboa Faculdade de Ciências and integrated member of the BioSystem and Integrative Sciences Institutte (BioISI).
Prof Bourbon is the Chair of the Familial Hypercholesterolaemia Variant Curation Expert Panel at Clinical Genome Resource and the National lead Investigator of 2 international FH registries (FH Studies Collaboration and International Children FH Registry). She is a board member of the Iberoamerican FH network. She also participates in the 1 Million Genomes Initiative in the country mirror groups on sequencing and interpretation standards and complex disorders and is part of the Public Health Group at FH Europe, a patients association initiative.
Prof Bourbon's main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH), developing and applying methods to identify, functionally characterize and interpret variants found in clinical FH patients and other dyslipidaemia patients. She is also working on a personalized medicine model for FH. She published more than 50 peer review articles in international scientific journals and 2 book chapters. She received 3 scientific awards.
Dr
Lisbon, Portugal
Head of Internal Medicine Department Hospital Lusíadas Lisbon
Elected President of the Portuguese Society of Atherosclerosis for 2023-2025. Portuguese representative in the Familial Hypercholesterolemia Study Group of the European Society of Atherosclerosis (2018-2021).
Coordinator of the Vascular Risk Study Group of the Portuguese Society of Internal Medicine (SPMI) (2019-2022). SPMI representative in the study group of the European Federation of Internal Medicine on Critical Analysis of Guidelines (2018-2022).
Has more than three hundred scientific presentations at national and international scientific meetings. More than forty articles and book chapters published.
Main file of interests: Lipidology, Diabetes, Vascular Risk
Head of Internal Medicine Department Hospital Lusíadas Lisbon
Elected President of the Portuguese Society of Atherosclerosis for 2023-2025. Portuguese representative in the Familial Hypercholesterolemia Study Group of the European Society of Atherosclerosis (2018-2021).
Coordinator of the Vascular Risk Study Group of the Portuguese Society of Internal Medicine (SPMI) (2019-2022). SPMI representative in the study group of the European Federation of Internal Medicine on Critical Analysis of Guidelines (2018-2022).
Has more than three hundred scientific presentations at national and international scientific meetings. More than forty articles and book chapters published.
Main file of interests: Lipidology, Diabetes, Vascular Risk
Prof
Porto, Portugal
Prof Paula Freitas is Endocrinologist in the Department of Endocrinology, Diabetes and Metabolism of the Centro Hospitalar Universitário São João, Porto
Assistant Professor at Faculty of Medicine University of Porto
Member of the Institute for Research and Innovation in Health (I3S)
Editor in Chief of the Portuguese Journal of Endocrinology, Diabetes and Metabolism.
President of the Portuguese Society for the Study of Obesity.
She has published 63 papers in journals with impact factor, and 8 chapters of books.
Prof Paula Freitas is Endocrinologist in the Department of Endocrinology, Diabetes and Metabolism of the Centro Hospitalar Universitário São João, Porto
Assistant Professor at Faculty of Medicine University of Porto
Member of the Institute for Research and Innovation in Health (I3S)
Editor in Chief of the Portuguese Journal of Endocrinology, Diabetes and Metabolism.
President of the Portuguese Society for the Study of Obesity.
She has published 63 papers in journals with impact factor, and 8 chapters of books.
Prof
Adult Inherited Metabolic Disorders Clinic, Medicine 1 department, Centro
Hospitalar Lisboa Norte, Lisbon, Portugal; Faculty of Medicine, Lisbon University.
Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed his
trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte
(Lisbon, Portugal). He completed his PhD at Lisbon University Medical School, in 2018, in the
field of inborn errors of metabolism (biomarkers of Anderson-Fabry disease) in partnership
with the University College of London. He performs the evaluation and follow up of patients
with inherited metabolic disorders, mainly lysosomal storage disorders. He is also member
of the core team of one of the national reference center in inherited metabolic disorders
(Centro Hospitalar e Universitário Lisboa Norte), as well as member of the board of the rare
diseases study group of the Portuguese Society of Internal Medicine.
His main research areas are Lysosomal Storage Disorders and Autonomic Nervous System
Diseases, with several ongoing research projects on Anderson-Fabry disease (AFD)
biomarkers, autonomic manifestations of AFD, immunogenicity against recombinant
proteins used for enzyme replacement therapy, factors affecting quality of life in patients
with type 1 Gaucher disease and neuroimaging prodromic signs of Parkinsonism in Gaucher
disease. In 2014, he was awarded the prize of the Federation for the Development of
Internal Medicine in Europe for research in the field of rare disorders.
He is invited lecturer of Lisbon University Medical school and has published 28 articles in
national and international peer-reviewed journals and presented more than 100
communications in national and international conferences and meetings.
Hospitalar Lisboa Norte, Lisbon, Portugal; Faculty of Medicine, Lisbon University.
Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed his
trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte
(Lisbon, Portugal). He completed his PhD at Lisbon University Medical School, in 2018, in the
field of inborn errors of metabolism (biomarkers of Anderson-Fabry disease) in partnership
with the University College of London. He performs the evaluation and follow up of patients
with inherited metabolic disorders, mainly lysosomal storage disorders. He is also member
of the core team of one of the national reference center in inherited metabolic disorders
(Centro Hospitalar e Universitário Lisboa Norte), as well as member of the board of the rare
diseases study group of the Portuguese Society of Internal Medicine.
His main research areas are Lysosomal Storage Disorders and Autonomic Nervous System
Diseases, with several ongoing research projects on Anderson-Fabry disease (AFD)
biomarkers, autonomic manifestations of AFD, immunogenicity against recombinant
proteins used for enzyme replacement therapy, factors affecting quality of life in patients
with type 1 Gaucher disease and neuroimaging prodromic signs of Parkinsonism in Gaucher
disease. In 2014, he was awarded the prize of the Federation for the Development of
Internal Medicine in Europe for research in the field of rare disorders.
He is invited lecturer of Lisbon University Medical school and has published 28 articles in
national and international peer-reviewed journals and presented more than 100
communications in national and international conferences and meetings.
Prof
MD, DMSc, Professor, University of Copenhagen, Denmark
Chief Physician, Dept. Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark
In 1985 he graduated as a medical doctor from University of Copenhagen. Scientific education included 2 years at Cornell University in Ithaca, New York with Donald Zilversmit, and 2 years St. Thomas's Hospital in London, UK with Barry Lewis.
In 1990 he was awarded Doctor of Medical Sciences by University of Copenhagen and in 2016 Honorary Doctorate by University of Buenos Aires, Argentina.
Prof. Nordestgaard has for more than 35 years continued his interest in the pathogenesis, diagnosis and treatment of hyperlipidemia, atherosclerosis, diabetes and cardiovascular disease, and has written extensively on these conditions. Important focus areas are related to triglyceride-rich lipoproteins, lipoprotein(a), and familial hypercholesterolemia.
In 1988-97 he acted as chairman of the Scandinavian Society for Atherosclerosis Research. In addition, in 1998-01 and in 2013-16 he was an Executive Committee member of the European Atherosclerosis Society and in 1999-02 an Executive Scientific Committee member of the European Society of Cardiology.
He is chairing the Copenhagen General Population Study and is also a steering committee member of the Copenhagen City Heart Study and of 4 large randomised intervention trials.
Prof. Børge G. Nordestgaard has supervised 65 Ph.D. students and 31 postdoctoral fellows, and has published 818 original articles and 125 reviews, book chapters, consensus statements, & editorials. His H-index is 133 in Web of Science and he is listed among the 6389 researchers World-wide with the most highly cited papers (n=73).
Original articles include publications in New England Journal of Medicine, Lancet, Journal of the American Medical Association, Nature, Science, Nature Genetics, British Medical Journal, Lancet Diabetes Endocrinology, European Heart Journal, Journal of the American College of Cardiology and Circulation.
Chief Physician, Dept. Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark
In 1985 he graduated as a medical doctor from University of Copenhagen. Scientific education included 2 years at Cornell University in Ithaca, New York with Donald Zilversmit, and 2 years St. Thomas's Hospital in London, UK with Barry Lewis.
In 1990 he was awarded Doctor of Medical Sciences by University of Copenhagen and in 2016 Honorary Doctorate by University of Buenos Aires, Argentina.
Prof. Nordestgaard has for more than 35 years continued his interest in the pathogenesis, diagnosis and treatment of hyperlipidemia, atherosclerosis, diabetes and cardiovascular disease, and has written extensively on these conditions. Important focus areas are related to triglyceride-rich lipoproteins, lipoprotein(a), and familial hypercholesterolemia.
In 1988-97 he acted as chairman of the Scandinavian Society for Atherosclerosis Research. In addition, in 1998-01 and in 2013-16 he was an Executive Committee member of the European Atherosclerosis Society and in 1999-02 an Executive Scientific Committee member of the European Society of Cardiology.
He is chairing the Copenhagen General Population Study and is also a steering committee member of the Copenhagen City Heart Study and of 4 large randomised intervention trials.
Prof. Børge G. Nordestgaard has supervised 65 Ph.D. students and 31 postdoctoral fellows, and has published 818 original articles and 125 reviews, book chapters, consensus statements, & editorials. His H-index is 133 in Web of Science and he is listed among the 6389 researchers World-wide with the most highly cited papers (n=73).
Original articles include publications in New England Journal of Medicine, Lancet, Journal of the American Medical Association, Nature, Science, Nature Genetics, British Medical Journal, Lancet Diabetes Endocrinology, European Heart Journal, Journal of the American College of Cardiology and Circulation.
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