PerMed FH - Personalising diagnosis and treatment for Familial Hypercholeserolaemia patients

Symposium

International Symposium on Personalised Medicine in Familial Hypercholesterolaemia (FH)

3–4 December 2026 · Sintra, Portugal

The International Symposium on Personalised Medicine in Familial Hypercholesterolaemia (FH) will take place in Sintra, Portugal, on 3–4 December 2026, bringing together leading researchers, clinicians, healthcare professionals, and people living with FH for two days of scientific exchange and discussion.

The symposium will explore the latest scientific and clinical advances in FH, with a particular focus on their potential to improve early diagnosis, personalised treatment, and disease prevention. By fostering dialogue between research, clinical practice, and the patient community, the meeting aims to accelerate the translation of emerging scientific knowledge into more effective and personalised approaches to FH care.

Preliminary Programme

Please click below to see the preliminary programme and the panel of experts that will contribute to the symposium.

Download programme (PDF)

Meet the Symposium Participants

Pablo Corral

FASTA University · Argentina

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Pablo Corral, MD, is a specialist in Internal Medicine and Lipidology from Argentina. He is Full Professor of Pharmacology at the School of Medicine, FASTA University, and Coordinator of the Lipids and Atherosclerosis Department at Instituto Clínica Médica in Mar del Plata. He is also an active clinical researcher with a major focus on dyslipidaemia, familial hypercholesterolaemia, lipoprotein(a), and cardiovascular risk prevention.

Dr Corral is Past President of the Argentine Lipid Society and a co-founder and active member of the European Atherosclerosis Society (EAS) Latin American Chapter. He serves as National Lead for Argentina within the EAS Lipid Clinic Network and has participated as national lead and principal investigator in multiple international clinical trials and registries in lipid disorders and cardiovascular prevention.

His academic and research activities focus particularly on improving the detection and management of inherited lipid disorders and translating emerging lipid-lowering therapies into clinical practice.

Alan T. Remaley

NHLBI & NIH Clinical Center · USA

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Alan T. Remaley, M.D., Ph.D., is chief of the Lipoprotein Metabolism Laboratory at the NHLBI and a senior staff member in the Department of Laboratory Medicine at the NIH Clinical Center in Bethesda, MD. He earned his B.S. in Biochemistry and Chemistry (1981) and his M.D./Ph.D. in Biochemistry (1987) from the University of Pittsburgh, completed a Clinical Pathology residency at the University of Pennsylvania (1990), and a postdoctoral fellowship at NHLBI (1990–1995).

Dr. Remaley has received numerous research awards and authored over 500 publications on lipoprotein metabolism and cardiovascular disease. He holds multiple patents for therapeutic agents and diagnostic tests. His work has significantly advanced understanding of HDL metabolism, particularly cholesterol efflux via the ABCA1 transporter, and led to the development of apoA-I mimetic peptides and recombinant LCAT therapies tested in early clinical trials. More recently, he has focused on LDL, developing a widely used equation to estimate LDL cholesterol and determining the first high-resolution structure of APOB100, a key protein in LDL metabolism.

Raul D. Santos

University of São Paulo · Brazil

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Raul D. Santos, MD, MSc, PhD, is a preventive cardiologist at the Academic Research Organization (ARO) of Hospital Israelita Albert Einstein in São Paulo, Brazil. He is also an associate professor and director of the Lipid Clinic at the Heart Institute (InCor) of the University of São Paulo Medical School Hospital. His research focuses on lipid metabolism, severe genetic dyslipidemias—particularly familial hypercholesterolemia—imaging in atherosclerosis, and novel lipid-lowering therapies, especially for pediatric patients. He served as president of the International Atherosclerosis Society (IAS) from 2019 to 2021 and is currently the Editor-in-Chief of Global Heart, the official journal of the World Heart Federation (WHF). Clarivate Analytics and Elsevier/Stanford University recognise him as a Highly Cited Researcher.

Prof. Frikke-Schmidt

University of Copenhagen · Denmark

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Prof. Frikke-Schmidt (MD, PhD, DMSci) is a medical specialist in Clinical Biochemistry and genomics and Clinical Professor within the field of lipid metabolism, cardiovascular disease and dementia. She is heading a cross disciplinary research group of medical doctors, bioinformatics and engineers, and has leading roles in genomic consortia and Scientific Societies within the field (FRIKKE-SCHMIDT GROUP: https://www.rigshospitalet.dk/english/research-and-innovation/units-and-groups/Pages/genomic-epidemiology-of-dementia-and-cardiovascular-risk-factors-and-disease.aspx). Prof. Frikke-Schmidt’s research is bridging the cardiovascular field with neuroscience and dementia by investigating causal inference of atherogenic lipid traits, cardiovascular biomarkers and risk factors for dementia, by developing ancestry specific risk prediction scores for targeted prevention, and by conducting genomics-driven repurposing of cardiovascular medicines for dementia. She also has a clear focus on atherogenic lipoproteins in childhood and spearheads an FH cord blood project in the Copenhagen Baby Heart Study. Prof. Frikke-Schmidt’s leadership roles include positions as Deputy Head of the Department of Clinical Medicine, University of Copenhagen, Director of the translational partnership, Greater Copenhagen Health Science Partners (responsible for establishing Clinical Academic Groups bridging clinical and basic scientists), clinical work as Senior Consultant, and long term member of the European Atherosclerosis Society (EAS) with roles as Execute Committee member, Chair of the EAS Young Investigator Award Committee, Chair of the 2020 Scientific Conference program, and Chair of the Election Committee. Her latest invited and plenary lectures include talks at the European Society of Cardiology congresses, Gordon Research Conferences and EAS conferences. Prof. Frikke-Schmidt has authored approximately 300 peer-reviewed scientific publications (Web of Science H-index 72; no. of citations >40,000).

Antonio Gallo

Sorbonne University · France

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Antonio Gallo is Head of the Lipid clinic and cardiovascular prevention unit and associate professor at Sorbonne University, Pitié-Salpêtrière Hospital in Paris, France.

After completing his training in Internal Medicine at Sapienza University of Rome, he obtained a PhD in Physiology, Physiopathology and Therapeutics at Sorbonne University and. His clinical activity focuses on the diagnostic and therapeutic management of genetic dyslipidaemias and primary cardiovascular risk prevention. His research interests include lipid metabolism, severe forms of genetic dyslipidaemias, residual risk in primary and secondary prevention, and imaging in atherosclerosis. His current projects focus on non-invasive coronary imaging and residual risk in familial hypercholesterolemia as well as severe forms of hypertriglyceridemia. He is involved as principal investigator in several randomized placebo-controlled trials on novel lipid-lowering treatments. He has authored or co-authored more than 100 peer-reviewed publications. He is a member of EAS (member of the Young Fellows of EAS 2019-2022), French Atherosclerosis Society NSFA (member of the scientific committee on the French registry of Familial Hypercholesterolemia), French Society of Cardiology (Member of the working group on heart and Metabolism).

Dirk Blom

University of Cape Town · South Africa

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Associate Professor Dirk Blom (MBChB, MMed, FCP (SA), PhD) is the Head of Division of Lipidology in the Department of Medicine at the University of Cape Town and heads the Lipid Clinic at Groote Schuur Hospital. After graduating with a MbChB from the University of Cape Town he specialized in internal medicine, graduating with an FCP(Sa) and MMed.

Dr Blom’s personal research interests include genetic disorders of lipoprotein metabolism with a particular emphasis on dysbetalipoproteinaemia and familial hypercholesterolaemia which is particularly common in South Africa. His unit has participated or is participating in multiple trials of novel agents for the management of heterozygous and homozygous familial hypercholesterolaemia, familial chylomicronaemia and atherogenic dyslipidaemia. Other interests include familial chylomicronaemia syndrome, lipodystrophy, PPARgamma mutations and statin associated muscle symptoms.

Dr Blom has published in multiple peer-reviewed journals and has also contributed to the development of the South African Dyslipidaemia and Diabetes guidelines.

Dr Blom is a member of multiple international societies and currently serves on the executive committee of the Lipid and Atherosclerosis Society of Southern Africa. He is the current President of the International Atherosclerosis Society.

Zanfina Ademi

Monash University · Australia

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Professor Zanfina Ademi is an internationally recognised health economist specialising in cardiovascular disease prevention, familial hypercholesterolaemia (FH), genomic screening and health technology assessment. She is Professor of Health Economics and Head of the Health Economics and Policy Evaluation Research (HEPER) Group in the Faculty of Pharmacy and Pharmaceutical Sciences at Monash University, Australia, and holds visiting professorships at the University of Eastern Finland and the University of Prishtina.

Her research generates economic evidence to inform healthcare policy, reimbursement and resource allocation. She has led extensive work on the cost-effectiveness and return on investment of cardiovascular prevention and FH screening strategies, including cascade, universal, paediatric and genomic approaches. She also developed the Productivity-Adjusted Life Year (PALY), a metric that captures the impact of health on work productivity.

Professor Ademi has authored more than 260 peer-reviewed publications and has secured over AUD 50 million in research funding. She was identified in a global bibliometric analysis as one of the two most productive authors in healthcare cost-effectiveness research from 2013 to 2023. She leads a health economics initiative within the Lp(a) International Task Force and serves on the Professional Advisory Board of FH Australia. She led the health economics of health technology assessments for the Swiss Medical Board and served as a member of Australia's PBAC Economics Sub-Committee, providing evidence for national reimbursement decisions.

Iñaki Gutiérrez-Ibarluzea

Basque Government · Spain

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Dr. Iñaki Gutiérrez-Ibarluzea is a prominent Spanish health research administrator and expert in healthcare policy and innovation. He currently serves as the Director of Health Research, Innovation and Evaluation at the Ministry of Health for the Basque Government. In this leadership role, he oversees regional R&D policy, strategic healthcare planning, and coordinates the Basque Health Research Institutes through BIOEF (the Basque Foundation for Health Innovation and Research).

Throughout his career, he has specialized in Health Technology Assessment (HTA), regulatory science, value-based healthcare, and evidence-based policymaking. His expertise has earned him significant international recognition. He served as the President of Health Technology Assessment International (HTAi) from 2019 to 2021 and currently leads EuroScan i-HTS, a global network dedicated to identifying and evaluating emerging health technologies and is chair of EUReGHA, the European Network of Regional and Local Authorities in Health.

He holds a degree in Fundamental Biology and a PhD in Neurosciences from the University of the Basque Country, alongside Master's degrees in Clinical Epidemiology, Bioethics, and Health Innovation Management. He has authored over 200 publications spanning public health, genetics, and medical ethics.

Gilles Lambert

University of La Réunion · France

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Gilles Lambert is Professor in Cell Biology and Biochemistry at the University of La Réunion Medical School (France) and a group leader at Inserm UMR1188 DéTROI laboratory.

Pr. Lambert was awarded a PhD in Pathophysiology from the University of Paris in 1998. He specialized in lipidology, first as a post-doctoral fellow at the Molecular Disease Branch of the National Institutes of Health (Bethesda MD, USA) and then as a senior research fellow at the Heart Research Institute (Sydney NSW, Australia).

In recent years, Pr. Lambert has conducted seminal research projects on Familial hypercholesterolemia, PCSK9, and lipoprotein (a). He has received several competitive research grants to study the cardiovascular benefits and potential side effects of PCSK9 inhibition and Lp(a) lowering.

Pr. Lambert current research interests are to decipher the molecular pathways modulating lipoprotein (a), to understand the role of PCSK9 in the peripheral nervous system, and to investigate personalized medicine approach for familial hypercholesterolemia.

Magdalena Daccord

Magdalena Daccord

FH Europe Foundation

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Magdalena Daccord is CEO of FH Europe Foundation (FHEF), an international network of patient organisations representing people and families affected by familial hypercholesterolaemia (FH), elevated lipoprotein(a) [Lp(a)], FCS and other inherited lipid disorders. Since 2019, she has grown the network to more than 40 organisations and strengthened the role of lived experience in cardiovascular research, policy and prevention.

She established FHEF’s international Patient Ambassador Programme, Scientific Advisory Committee and Lp(a) International Task Force, and led the first Lp(a) Global Summit and development of the Brussels International Declaration on Lp(a) Testing and Management and Prague Declaration on FH Paediatric Screening.

Magdalena is a co-author of the World Heart Federation Cholesterol Roadmap and a member of the WHO Guideline Development Group for global dyslipidaemia guidelines. She contributes to European programmes including PERFECTO and FH-EARLY, focusing on early detection, paediatric screening and personalised prevention.

Her advocacy contributed to the recognition of FH, elevated Lp(a), PERFECTO and FH-EARLY in the EU Safe Hearts Plan. She also contributes to the European Alliance for Cardiovascular Health (EACH).

Before joining FHEF, Magdalena was Head of Operations for EMEA at DIA, following a career in the pharmaceutical industry focused on rare diseases and orphan drugs.

Marta Futema

City St George’s, University of London · UK

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Dr Marta Futema is a Lecturer in Cardiovascular Science at City St George’s, University of London, where she leads a research programme in cardiovascular genomics. Her research focuses on improving the diagnosis, risk prediction and prevention of inherited cardiovascular diseases through population genomics, rare variant interpretation, polygenic risk and functional genomics.

Using large-scale genomic resources, including the 100,000 Genomes Project and UK Biobank, Dr Futema has advanced understanding of the genetic basis of familial hypercholesterolaemia and related inherited cardiovascular diseases. Her work has improved clinical variant interpretation, refined genomic diagnosis through the study of lipoprotein(a), and expanded diagnostic yield by identifying and functionally validating pathogenic non-coding variants.

Dr Futema co-leads the Variant Discovery and Clinical Interpretation Community at Genomics England and is an expert member of the ClinGen Familial Hypercholesterolaemia Variant Curation Expert Panel. Her long-term vision is to harness genomic technologies to enable earlier diagnosis, precision prevention and improved outcomes for patients with inherited cardiovascular diseases, including those at risk of sudden cardiac death.

Gustavs Latkovskis

University of Latvia · Latvia

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Gustavs Latkovskis, MD, PhD, FESC, is a clinical and interventional cardiologist at Pauls Stradiņš Clinical University Hospital and Professor of Medicine at the University of Latvia in Riga, Latvia. His research focuses primarily on cardiovascular prevention, lipidology, familial hypercholesterolaemia and other inherited dyslipidaemias. He founded the Latvian Registry of Familial Hypercholesterolaemia in 2015 and continues to lead it. He is Vice President of the Latvian Society of Cardiology, a full member of the Latvian Academy of Sciences and a member of the International Lipid Expert Panel. He graduated cum laude from the Latvian Medical Academy in 1995 and obtained his PhD from the University of Latvia in 2006.

Marianne Abi Fadel

Saint Joseph University of Beirut · Lebanon

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Professor Marianne Abi Fadel is the Honorary Dean of the School of Pharmacy at Saint Joseph University of Beirut (USJ), as well as the Director of the School of Medical Laboratory Technicians (ETLAM) and the Director of the Laboratory of Biochemistry and Molecular Therapeutics (LBTM) at USJ. She is also a French Lebanese Professor of Biochemistry and Molecular Biology at USJ and at Sorbonne University in Paris (ICAN INSERM UMRS1166). She discovered the implication of PCSK9 mutations in familial hypercholesterolemia (Abifadel et al. Nature Genetics 2003), paving the way for a new class of lipid-lowering drugs: the PCSK9 inhibitors. She is involved in national and international collaborations on genetic dyslipidemia, especially Familial Hypercholesterolemia FH (EAS-FHSC; FH-EARLY), and has authored numerous publications in high-impact factor journals.

Born in Beirut, she received her PharmD from USJ, her Laboratory Medicine and Clinical Chemistry Diploma and her PhD in Molecular Genetics in 2003 and the French accreditation to supervise research from the University of Paris-Descartes. She conducted her research in Paris at INSERM U783;1148; and UMRS 1166), and in Beirut at the LBTM.

She was awarded several distinctions in France and Lebanon for her work on FH, most recently the prestigious Christophe Mérieux Prize 2021, from the “Institut de France” in Paris; the Golden Award of the Italian Society of Cardiology in 2022, in Rome, and the Philippe Kfouri Prize from the French National Academy of Medicine” in Paris in 2025. She is a member in the National French Academy of Pharmacy as international correspondent since 2019.

Elsie Evans

FH Europe Foundation

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Elsie Evans is Ambassador Programme Project Manager at FH Europe Foundation, co-ordinating initiatives that strengthen patient engagement, community building, and advocacy. She works closely with patient organisations, volunteers, healthcare professionals, researchers, and industry partners to ensure that the voices and experiences of people living with inherited lipid conditions are represented including supporting FHEF Ambassadors engagement in projects.

As a person living with Homozygous Familial Hypercholesterolaemia (HoFH), elevated Lipoprotein(a) and advanced atherosclerotic cardiovascular disease, Elsie brings both professional expertise and lived experience to her work. She is passionate about empowering patients through education, supporting meaningful patient involvement in research, and improving awareness of the importance of early diagnosis and equitable access to care.

Through her role with FH Europe Foundation, ​​she supports a growing international network of Ambassadors and advocates, helping to build connections across countries and communities. She is particularly committed to ensuring that the patient perspective is included in discussions that shape the future of personalised medicine, screening programmes, and healthcare policy.

Steve Humphries

University College London · UK

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Steve Humphries is a world-renowned expert in cardiovascular genetics with a focus on   Familial Hypercholesterolaemia (FH).  He worked at University College London from 1991, where he was the British Heart Foundation Professor of Cardiovascular Genetics, retiring in September 2015 and is the BHF UCL Emeritus Professor of Cardiovascular Genetics. He directed a major research programme to develop and implement molecular strategies to study the genetic causes and clinical and psychological consequences of FH. He was the Lead Advisor to the UK NICE guidelines on FH published in 2008, and updated in 2017, and has published on the health economics of cascade testing and Universal Screening for FH. He is  a member of the UK National Cholesterol and FH Group and is the Director of the UK FH Paediatric Register and the Simon Broome FH Register. He is actively involved with teaching, ethics, and public awareness aspects of the implementation of genetic testing for FH. He has helped draft the latest EAS consensus document on the management of children with FH, been the lead organiser for the Paediatric FH workshops run as part of every EAS meeting for the last 9 years, and currently chairs the EAS Paediatric Lipid Working Group.

Liam Brunham

University of British Columbia · Canada

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Liam Brunham is a Professor of Medicine and a Canada Research Chair in Precision Cardiovascular Disease Prevention at the University of British Columbia. He is the Physician Lead of the Healthy Heart Program Prevention clinic at St. Paul’s Hospital, one of the largest specialty lipid clinics in Canada. His research team at the UBC Centre for Heart Lung Innovation focuses on the role of genetics in metabolic and cardiovascular disease and the response to medications. He is the co-lead of Familial Hypercholesterolemia Canada and the principal investigator of the Canadian Lipoprotein(a) Registry.

Join the PerMedFH Symposium online

We invite you to join the PerMedFH Symposium online and be part of the discussion on the future of personalised diagnosis and treatment in Familial Hypercholesterolaemia.

Online participation is free of charge, but registration is required.

On-line Registration Form
The project leading to these results has received funding from “la Caixa” Foundation and FCT, I.P. under the project code: LCF/PR/HP23/52330032. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the "la Caixa" Foundation or the FCT. Neither "la Caixa" Foundation nor the FCT can be held responsible for them.
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