3rd Best Practice Example of Personalised Medicine Research & Implementation - From Basic Research to the Patient

Translational medicine in familial Hypercholesterolaemia – from Phenotype to Genotype to Treatment

Introduction and Moderation: Mafalda Bourbon and João Lavinha, INSA, Portugal

Mechanism of Diseases and Research Effort: Mafalda Bourbon, INSA, Portugal
Clinical approach and Health System Implementation: Eric Sijbrands, Erasmus Medical Centre, Netherlands
Market Access and Precision Medicine in FH: Steve Humphries, Store Gene, United Kingdom
Health System Implementation: Eric Sijbrands, Erasmus Medical Centre, Netherlands
Patient benefit: Gabriele Hanauer-Mader, FH Austria, Austria
Ethical, Legal and Social Implications: João Lavinha, INSA, Portugal

Mafalda Bourbon

National Health Institute Doutor Ricardo Jorge (INSA), Portugal

Mafalda Bourbon has a PhD in Clinical Sciences by the Imperial College Faculty of Medicine, London, UK. She is founder and coordinator of the Portuguese Familial Hypercholesterolaemia (FH) Study since 1999 and coordinator of the Research and Development Unit, Department of Health Promotion and Prevention of Noncommunicable Diseases at the National Institute of Health Doutor Ricardo Jorge (INSA), Lisbon, Portugal. She is also Head of the Cardiovascular Research Group at INSA and integrated member of the Biosystems & Integrative Sciences Institute (BioISI).

Mafalda is invited Professor at Faculty of Sciences of the University of Lisbon, Lisbon, Portugal and member of the board of the Iberoamerican FH Network and National Lead Investigator for the 2 FH registries: FHSC and International Paediatric FH Registry. She is also chair of the FH Expert Panel Variant Curation at Clinical Genome Resource (ClinGen Cardiovascular).

João Lavinha

National Health Institute Doutor Ricardo Jorge (INSA), Portugal

João Lavinha is Head of the Research & Development Unit, Human Genetics Department, National Institute of Health Ricardo Jorge (INSA), Lisboa, Portugal. He has held other positions at INSA over the years including Director-general (2000-2004). He received his equivalent to PhD from INSA (1994) and his MSc (Medical Science) from the University of Glasgow (1983), having previously graduated (BSc) in Pharmacy and Chemistry from the University of Lisboa (1969, 1977). He is (co)-author of 103 papers, 76 of which in international peer-reviewed journals. His current research interests include molecular etio-pathogenesis and epidemiology of genetic disease, public health genomics and genetics of the response to environmental stressors in human-relevant models. Since 2016 he is a member of the Portuguese Clinical Research Ethics Review Board. He has been elected to the board of the European Society of Human Genetics (1997-2002).

Eric Sijbrands

Erasmus Medical Centre, Netherlands

Prof. Dr. Eric Sijbrands is one of the founding fathers of the Dutch national molecular diagnostics program for familial hypercholesterolemia and he tested the clinical value of this worldwide first and largest population-based genetic diagnostic screening program. His work improved the insurability of patients with familial hypercholesterolemia: identified and on statins they now pay regular premiums. He is specialized in collecting databases and biobanks of deep phenotyped cohorts with the specific properties that enhance translational research. His research group is active in the fields of genetic epidemiology of cardiovascular disease, hyperlipidaemia, hypertension, and diabetes mellitus.

Steve Humphries

Store Gene, United Kingdom

Steve Humphries is a world-renowned expert in cardiovascular genetics, a field in which he has worked for over 30 years. He worked at University College London from 1991, where he was the British Heart Foundation Professor of Cardiovascular Genetics. He retired in September 2015 and is the UCL Emeritus Professor of Cardiovascular Genetics. Professor Humphries has an h index of >100 and has published over 700 papers and more than 230 review articles and has supervised 39 PhD and 8 MD thesis students. From 2008-2015 he was the Editor in Chief of the international journal Atherosclerosis.

He has directed a major research programme to develop and implement molecular strategies to study the causes and clinical and psychological consequences of Familial Hypercholesterolaemia (FH). He was the Lead Advisor to the UK NICE guidelines on FH published in 2008, and for the NICE 2017 update of these guidelines. He directed the 2010 UK audit of FH services and has set up an FH Pediatric Register under the auspices of the RCP and RCPCH. He has published on the health economics of cascade testing for FH, and is the Director of the international FH mutation database. He is actively involved with teaching, ethics, and public awareness aspects of the development of genetic testing for complex late-onset disorders.

Gabriele Hanauer-Mader

FH Austria, Austria

Born in Vienna, Austria, Gabriele Hanauer-Mader is an English/Spanish major and worked as a journalist, copywriter, and public relations expert before her daughter was born in 2000. When her daughter was diagnosed with a severe form of familial hypercholesterolemia at the age of 3, Gabriele founded an FH patient support group that later became FHchol Austria, an FH patient organization & charity. As president, it is her goal to raise awareness of this genetic but easily manageable lipid disorder to prevent patients from suffering cardiovascular disease. She also works as coordinator for an FH registry project in Austria.

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