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Advanced Course in Rare Lipid Disorders - from Copenhagen

Fri, Oct 8, 2021 · 09:00 · Stockholm
About This Webinar

We are delighted to invite you to this EAS Advanced Course in Rare Lipid Disorders, organised by Prof Ruth Frikke-Schmidt, Copenhagen, Denmark.

Our expert faculty will each give a 20-min presentation on their specialist topic, after which there will be Q&A with the audience.

Agenda
  • Welcome and Introduction
  • Overview of human lipid metabolism
  • Homozygous familial hypercholesterolemia: Genetics, diagnosis, and established and emerging therapies
  • Sitosterolemia: Molecular background, clinical presentation and treatment
  • Extreme high lipoprotein(a) levels: Genetics, pathogenesis and emerging therapies
  • Dysbetalipoproteinemia and apolipoprotein E – from rare syndromes to impact in the general population
  • Low HDL cholesterol disorders: Genetic background and future therapeutic options
  • Lysosomal Acid Lipase Deficiencies: Molecular background, clinical phenotype and treatment options
  • Chylomicronemia syndrome: Molecular background, clinical presentation, and therapies
  • Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia
  • Concluding remarks
Who can view: Everyone
Webinar Price: Free
Featured Presenters
Webinar hosting presenter
Prof
Professor, MD, PhD, DMSc

Positions and Honors
Professor and Deputy Head at the Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen and Chief Physician at Rigshospitalet, Copenhagen University Hospital.

Chairman of the Scientific Programme Committee for the EAS 2020 Congress in Geneva 2018-2020, and EAS Executive Committee member 2017-2020; Chairman of the Scandinavian Society for Atherosclerosis Research 2006–2011; Member of the steering committee for the Copenhagen General Population Study (a study of 110,000 participants from the general population); Member of the steering committee for the Copenhagen Baby Heart study (a study of 30,000 newborns); Member of the steering committee for the National Institute of Public Health 2017-ongoing; Editorial board member of Atherosclerosis 2017-ongoing.

Research
Early on Ruth Frikke-Schmidt (RFS) performed a series of papers on a central lipid transport protein, apolipoprotein E (apoE) (e.g. JACC 2000), and on the newly identified ABCA1 gene. ABCA1 was sequenced in the population extremes (J Clin Invest 2004, JACC 2005), and a series of Mendelian Randomization studies was performed and showed that the so-called “good” HDL cholesterol is not causally related to atherosclerotic cardiovascular disease (e.g. JAMA 2008, Lancet 2012), a highly controversial statement in 2008. All ongoing HDL increasing trials failed and the findings had major impact on drug-development in the field, and on how HDL cholesterol in atherosclerotic cardiovascular disease is understood today. Subsequently, RFS leveraged her knowledge from peripheral lipid metabolism into neurodegenerative diseases, where local lipid transport is emerging as a key player – with apoE and its key lipidator, ABCA1, as important examples (e.g. Alzheimers Dement 2015 & 2018, Eur Heart J 2019). RFS and her students have established apoE levels as causal factors for dementia in large scale genotyping and sequencing efforts (Alzheimers Dement 2018 and 2020, Eur Heart J 2019), paving the way for apoE targeted therapeutic applications. Most recently RFS and her students have established that a healthy cardiovascular profile nearly halves the risk of dementia, even in those groups with highest genetic susceptibility (Eur Heart J 2020). This highlights the shared potential for prevention of cardiovascular disease and dementia. Further, her knowledge in human lipid metabolism is translated into clinical guidance by working with the European Atherosclerosis Society Task Force Consensus Statement (Lancet Diabetes Metabolism 2020).

Webinar hosting presenter
Prof
Professor, MD, PhD,
University of Gothenburg, Sweden
Webinar hosting presenter
Prof
Professor, MD, DMSc,
Rigshospitalet and University of Copenhagen, Denmark

Chief Physician at the Department of Clinical Biochemistry at Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark (1999). Clinical Professor of Clinical Biochemistry with Focus on Translational Molecular Cardiology at the Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark (2009).

Graduated as medical doctor from the University of Copenhagen in 1981. Board certified as a specialist in Clinical Biochemistry 1996. Scientific education included 1 year at the University of Copenhagen and the Lipid Clinic at Righospitalet, Copenhagen University Hospital. Three years at Hagedorn Research Laboratory, Gentofte, Denmark, and 3 years (87-89) at British Heart Foundation’s Molecular Biology Research Group, London, UK.

AT-H’s research has focused on the genetics and genomics of cardiovascular disease and related diseases in large prospective studies of the general population (>150.000 participants). Recent focus areas include Mendelian randomization, polygenic risk scores for dyslipidemia and CAD, and amyloidosis and amyloidosis-related heart disease and other diseases.

AT-H is a current member of the steering committees of the Copenhagen City Heart Study and the Copenhagen General Population Study, and Executive Editor for European Heart Journal 2020 and ongoing.

Honors include: Honorary member, Czeck Atherosclerosis Society 2017. EAS’ Anitschkow Prize for 2018. JLR Distinguished Lecture, ISA Toronto 2018. Albert Latner Memorial Lecture, Univ. of Newcastle 2018. The KFJ Prize for 2018, University of Copenhagen, Denmark. National Lipid Association (NLA) USA, Honorary Lifetime Membership Award 2021.
Webinar hosting presenter
Dr
MD, PhD
Unit for HTS-diagnostics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway

Dr Berge hasbeen involved in research and genetic testing of lipid disorders for several years. In 2000-2002 he was a post doc in Professor Helen H. Hobbs lab at UT Southwestern Medical Center in Dallas, Texas, where he was involved in the research that led to the identification and characterization of the genes ABCG5 and ABCG8 that are involved in sitosterolemia.

For the last 5 years Dr Berge has been the unit leader for the HTS-diagnostics unit, Department of Medical Genetics, Oslo University Hospital. Together with his co-workers he is providing genetic diagnosis for rare disorders using next generation sequencing, mainly by whole genome sequencing.”

Webinar hosting presenter
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.
Webinar hosting presenter
Prof
Professor, PhD,
University of Milan, Italy
Webinar hosting presenter
Prof
Professor, PhD,
Medical University of Graz, Austria

Dagmar Kratky is Professor of Biochemistry at the Gottfried Schatz Research Center of the Medical University of Graz in Austria. She is a molecular biologist and biochemist with expertise in lipid and energy metabolism of mutant mouse models.

Storage and degradation of lipids are tightly regulated processes involving intracellular lipid hydrolases, enzymes of lipid biosynthesis, and regulatory proteins. Excessive lipid accumulation is central in the pathogenesis of prevalent metabolic diseases such as obesity, diabetes, and atherosclerosis. Her research interests focus on the role of lysosomal and cytosolic lipases in various cells and organs. The research group utilizes mutant mouse models with loss or overexpression of lipases to study the impact of the respective enzymes on whole-body lipid and energy metabolism. Over the past years, the laboratory has successfully explored the role of neutral and acid lipid hydrolases in tissues and various blood cell types including macrophages and neutrophils. The group aims to understand the molecular mechanisms that cause abnormalities in lipid and lipoprotein metabolism associated with the development of chronic inflammatory disorders including atherosclerosis. In addition, they are interested in cell and tissue autonomous functions of the respective enzymes.

Dagmar Kratky wants to pass on her enthusiasm for lipid metabolism by mentoring young scientists. Dagmar has broad leadership experience as board member of various scientific societies. She is currently treasurer of the European Lipoprotein Club, president elect of the Austrian Atherosclerosis Society and coordinates the excellent network program “SFB Lipid Hydrolysis” funded by the Austrian Science Fund (FWF).
Webinar hosting presenter
Prof
Professor, MD, PhD,
Western University, London, Ontario, Canada
Webinar hosting presenter
Prof
Professor, MD,
University of California, Los Angeles, USA

Stephen Young grew up in Kansas and obtained an undergraduate degree in history from Princeton University. Following medical school at Washington University-St. Louis, he did internal medicine training at UCSF and cardiology training at UCSD. He then embarked on a career in basic science. He did postdoctoral research training in lipid metabolism at UCSD with Dr. Joseph Witztum and then worked at a UCSF-affiliated research institute for 17 years. Along the way, he became an expert in using genetically modified mice to investigate the gene function in health and disease. Currently, his laboratory studies an endothelial cell protein required for plasma triglyceride metabolism and diseases of the nuclear envelope. His laboratory has a strong track record in developing the careers of young scientists. Dr. Young has received multiple awards and is a member of the National Academy of Sciences.
Documents
PDF
Today's Programme in full.pdf
PDF
Review Article - Rare dyslipidaemias from phenotype to genotype.pdf
PDF
EAS Consensus slide set - Rare lipid disorders.pdf
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