MOLECULAR MEDICINE IN DYSLIPIDAEMIA AND DIABETES
Molecular medicine is the study of diseases at the cellular and molecular level to understand how genes, proteins, and other molecules cause illness, with the goal of developing new ways to diagnose, treat, and prevent disease. Molecular medicine has an important role on precision medicine contributing to personalised approaches by identifying individual molecular profiles that can lead to earlier and more effective interventions.
Molecular medicine plays a crucial role in understanding and managing dyslipidaemia and diabetes by uncovering the genetic, biochemical, and cellular mechanisms driving these metabolic disorders. Advances in genomics and molecular biology have identified key regulatory pathways, which contribute to disease onset and progression. These insights not only improve diagnostic precision through biomarkers and genetic profiling but also pave the way for targeted therapies.
Our aim is to uncover novel pathways and mechanisms in monogenic dyslipidaemia and diabetes and to improve genetic diagnosis by the development of new diagnostic assays and implementation of functional assays to characterize the gene defect and the affected protein.
By bridging molecular insights with clinical data, molecular medicine offers new opportunities for personalised treatment and prevention strategies in dyslipidaemia and diabetes.
RESEARCH TEAM
Bourbon, Mafalda, PhD
GROUP LEADER
Mafalda Bourbon is Co-Principal Investigator of the Molecular Medicine in Dyslipidaemia and Diabetes Unit at the Centro Cardiovascular da Universidade de Lisboa (CCUL), together with Patrício Aguiar. She is also Principal Researcher at the Instituto Nacional de Saúde Doutor Ricardo Jorge, where she serves as 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. In addition, she is an Invited Assistant Professor at Faculdade de Ciências and Invited Associated Professor at Faculdade de Medicina, both from Universidade de Lisboa. She completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine – Hammersmith Campus. She also holds a MSc in Molecular Medicine by Imperial College London. She 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 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 patient association initiative. She is a board member of the Iberoamerican FH network and is part of the Scientific Committee of the Portuguese Atherosclerosis Society. She published more than 80 peer review articles in international scientific journals and 3 book chapters. She supervised 5 PhD thesis and co-supervised 3 and has 2 ongoing full PhD supervisions. She also supervised several MSc dissertations. She received 3 scientific awards and 10 prizes in congress. Participates and/or participated as Principal investigator in 13 projects, including 2 large consortiums: PerMedFH (coordinator) and FH EARLY (WP leader). She also participated, as a member, in 13 projects. She works in the areas of Medical and Health Sciences with emphasis on Basic Medicine, Human Genetics and Clinical Medicine (Cardiology and Metabolism). Her 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. Her research also focuses on the identification of new genes/mechanisms for inherited hypercholesterolaemia.
ORCID ID: 0000-0001-8843-3799
E-mail: mafalda.bourbon@insa.min-saude.pt
Aguiar, Patrício, PhD
GROUP LEADER
Patrício Aguiar is Co-Principal Investigator of the Molecular Medicine in Dyslipidaemia and Diabetes Unit at the Centro Cardiovascular da Universidade de Lisboa (CCUL), together with Mafalda Bourbon. Patrício graduated at Lisbon University Medical School in 2006 and completed his trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte. He completed his PhD at Lisbon University Medical School (biomarkers of Anderson-Fabry disease), in 2018, 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 and inborn errors of lipid metabolism. He is also member of the core team of one of the national reference centre in inherited metabolic disorders (Unidade Local de Santa Maria), integrated in the MetabERN (European Reference Network for inherited metabolic disorders), 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, familial dyslipidaemias and Autonomic Nervous System Diseases, with several ongoing research projects on AndersonFabry disease (AFD) biomarkers and immunogenicity against recombinant proteins used for enzyme replacement therapy 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 Assistant Professor of Internal Medicine at Lisbon University Medical School and has published more than 50 articles in national and international peer-reviewed journals and presented more than 250 communications in national and international conferences and meetings.
ORCID: 0000-0003-2393-3463
Email: patricio.aguiar@campus.ul.pt
Alves, Ana Catarina, PhD
Researcher
Ana Catarina Alves is a researcher at National Institute of Health Doutor Ricardo Jorge.
She completed her PhD in Biochemistry at Faculdade de Ciências da Universidade de Lisboa, Portugal.
Since 2003 is member of the laboratory team of Mafalda Bourbon’s Group (Cardiovascular Research Group). She is also an integrated member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal), member of the Familial Hypercholesterolemia Variant Curation Expert Panel (biocurator) at Clinical Genome Resource (cardiovascular working group) and member of the Iberoamerican FH network.
She published 37 peer review articles in international scientific journals and 2 book chapters. She supervised 4 MSc dissertations. She received 3 scientific awards and 4 prizes in congress. She is a Principal investigator in one project and is Researcher member in 8 projects. Her main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH), where she works with functional studies, NGS and interpret variants found in clinical FH patients and other dyslipidaemia patients. Currently, she is the project manager of the Study of rare monogenic familial dyslipidaemias at the National Institute of Health (Lisbon, Portugal).
ORCID: 0000-0003-3157-7542
E-mail: catarina.alves@insa.min-saude.pt
Dario, Paulo, PhD
Researcher
Paulo Dario is a Researcher at the Portuguese National Institute of Health Doutor Ricardo Jorge.
He holds a PhD degree in Biology (specialty in Genetics) from the University of Lisbon, a Master’s Degree in Forensic Medicine and Forensic Sciences from the Faculty of Medicine of the University of Lisbon and a BSc in Microbial Biology and Genetics from the Faculty of Sciences of the University of Lisbon.
In his professional career, he published 18 publications in specialized scientific journals and 5 book chapters, having received two awards. He supervised four master’s dissertations and co-supervised one.
Paulo works in the area of Medical and Health Sciences with an emphasis on Human Genetics and Heredity, Molecular Biology, Diagnosis and Genetic Based Therapies. Since he joined INSA in 2020 as member of Mafalda Bourbon’s Lab (Cardiovascular Research Group), his research area is in monogenic diabetes and he is member of the ClinGen Monogenic Diabetes Variant Curation Expert Panel.
ORCID: 0000-0002-4203-9179
E-mail: paulo.dario@insa.min-saude.pt
Medeiros, Ana, PhD
Senior Technician
Ana is a senior technician at the National Institute of Health Doutor Ricardo Jorge. She has a master’s degree in chemistry from the Instituto Superior Técnico (University of Lisbon, Portugal) and a PhD in Biochemistry (Faculty of Sciences, University of Lisbon, Portugal).
Since 2005, she is a member of Mafalda Bourbon’s Lab (Cardiovascular Research Group) and currently is the project manager of the Portuguese FH Study at the National Institute of Health (Lisbon, Portugal). She is a a researcher at the Cardiovascular Centre (CCUL), a collaborating member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal), member of the Familial Hypercholesterolemia Variant Curation Expert Panel (biocurator) at Clinical Genome Resource (cardiovascular working group) and member of the European Atherosclerosis Society (EAS). Her area of scientific activity has been cardiovascular genetics and atherosclerosis, with special interest in Familial Hypercholesterolaemia (FH), having published 19 publications peer-reviewed articles in international scientific journals and authored two book chapters.
ORCID: 0000-0003-2972-0872
E-mail: ana.medeiros@insa.min-saude.pt
Chora, Joana Rita, PhD
Postdoc Researcher
Joana is a postdoc at Mafalda Bourbon’s Lab, currently working on the project Personalization of diagnosis and treatment of patients with Familial Hypercholesterolemia (PerMedFH).
She is a member of Cardiovascular Research Group since 2015, where she finished her PhD in Biology, specialization in Genetics (2023) with the thesis “Personalized Medicine in Familial Hypercholesterolemia – diagnosis, stratification of cardiovascular disease risk and lipid therapy management”. She has a Masters (MSc) in Molecular Biology and Genetics (2008), Licenciatura (BSc) in Microbial and Genetic Biology (2007), and completed a Specialization course in Statistics applied to Biology and Health Sciences (2012), all by University of Lisbon (Portugal), Faculty of Sciences. She was also part of the European Atherosclerosis Society (EAS) Young Fellows programme class of 2022/2023.
Joana is a member of the Familial Hypercholesterolemia Variant Curation Expert Panel at the Clinical Genome Resource since 2016, where she works as scientific co-lead, curator trainer and reviewer. She is also a collaborating member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal) since 2007, of University of Lisbon’s Cardiovascular Centre (CCUL), Molecular Medicine in Dyslipidaemia and Diabetes Research Group since 2025, and a member of the European Atherosclerosis Society (EAS) since 2017.
During her professional career, she authored or co-authored 18 peer review articles in international scientific journals and 2 book chapters, having received 1 award and 4 conference prizes. Joana has supervised 1 MSc’s dissertation (completed in 2025). She works in the area of Health Sciences with an emphasis on Human Genetics and Molecular Biology and, since she joined the Cardiovascular Research Group, her research has focused on Familial Hypercholesterolemia diagnosis, genetic variant interpretation, cardiovascular risk estimation and pharmacogenetics of lipid therapy.
ORCID: 0000-0003-4942-1730
E-mail: joana.chora@insa.min-saude.pt
Graça, Rafael, PhD
Postdoc Researcher
Rafael Graça is a postdoctoral researcher at Mafalda Bourbon’s Lab (Cardiovascular Research Group – National Health Institute Doutor Ricardo Jorge), currently working on the project Personalization of diagnosis and treatment of patients with Familial Hypercholesterolemia. He completed his PhD in Biology, with specialization in Systems Biology, from the Faculty of Sciences of the University of Lisbon.
He was a member of the Cardiovascular Research Group and of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical Research and Translation Unit (University of Lisbon, Portugal) between 2017 and 2020, during which he developed his doctoral thesis entitled Functional genomics in familial dyslipidaemia. Between 2021 and 2024, he worked in genetic diagnosis as a molecular geneticist at GenoMed® – Diagnósticos de Medicina Molecular SA. Currently he is a member of both BioISI and the University of Lisbon’s Cardiovascular Centre (CCUL), Molecular Medicine in Dyslipidaemia and Diabetes Research Group. Rafael is a member of the Familial Hypercholesterolemia Variant Curation Expert Panel (FH VCEP) at the Clinical Genome Resource, where he works as a junior curator.
Throughout his professional career, he published 10 articles in specialized scientific peer-reviewed journals. With a diverse range of experience in both academia and industry, Rafael has a strong background in the field of Human Genetics and Molecular Biology, with a major focus on genetic dyslipidaemias, in particular Familial Hypercholesterolemia, functional studies, NGS data analysis and the interpretation of genetic variants.
ORCID: 0000-0003-3725-0268
E-mail: rafael.graca@insa.min-saude.pt
Anselmo, Carolina, MSc
PhD Student
Carolina Anselmo is a PhD student in Biomedical Sciences at the Faculty of Medicine, University of Lisbon. She holds a BSc in Biochemistry from the University of Évora and a MSc in Biopharmaceutical Sciences from the Faculty of Pharmacy, University of Lisbon.
She is currently working on her PhD thesis in Mafalda Bourbon’s Group (Cardiovascular Research Group), in the context of the projects “Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients” (PerMedFH) and “New Strategies for the Early Diagnosis, Risk Stratification and Co-management of Familial Hypercholesterolaemia (FH-EARLY)”.
She is also a member of University of Lisbon’s Cardiovascular Centre (CCUL), Molecular Medicine in Dyslipidaemia and Diabetes Research Group and Faculty of Medicine, University of Lisbon (FMUL).
ORCID: 0009-0003-5722-3344
E-mail: carolina.anselmo@insa.min-saude.pt
Miranda, Beatriz, MSc
Researcher Assistant
Beatriz Miranda is a research technician/assistant at Mafalda Bourbon’s Group (Cardiovascular Research Group) currently collaborating in the Portuguese FH Study and the Study of Rare Monogenic Rare Dyslipidaemias.
She hold an MSc degree in Medical Biochemistry from the Faculty of Sciences of the University of Lisbon, and a BSc in Human Biology from the University of Évora. Since 2019 is a member of the laboratory team of Mafalda Bourbon’s Group, where she developed her master thesis project intituled “Molecular study of genetic dyslipidaemias by Next Generation Sequencing”, in 2020-2021.
She is also a member of the Familial Hypercholesterolemia Variant Curation Expert Panel (as senior biocurator) at Clinical Genome Resource. Additionally, she is member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal).
ORCID: 0000-0002-5476-0203
E-mail: beatriz.miranda@insa.min-saude.pt
Ferreira, Maria, MSc
Research Assistant
Maria Ferreira is a research technician in Mafalda Bourbon’s Group, where she collaborates in the Familial Dyslipidaemias (DFs) and Functional Genomics in Familial Dyslipidaemias (FunGen) studies. She is currently working on the FH-EARLY project, funded by the European Union, which focuses on early diagnosis and personalized care for patients with Familial Hypercholesterolaemia. She also collaborates in the PerMedFH project (Personalizing diagnosis and treatment for Familial Hypercholesterolemia).
She holds an MSc in Human Biology and Environment and a BSc in Biochemistry, both from the Faculty of Sciences of the University of Lisbon. As part of her MSc, Maria developed her thesis project in 2021–2023, entitled “APOB Variants Spectrum and Functional Characterization in Portuguese Patients with Familial Hypercholesterolaemia Phenotype”.
Since 2021, she has been a member of Mafalda Bourbon’s laboratory team. In addition, she is a member of the Familial Hypercholesterolaemia Variant Curation Expert Panel (FH VCEP) at the Clinical Genome Resource, where she works as a junior curator, and a member of the Cardiovascular Centre of the University of Lisbon (CCUL), Molecular Medicine in Dyslipidaemia and Diabetes Research Group.
ORCID: 0000-0003-3797-8267
E-mail: maria.ferreira@insa.min-saude.pt
Domingos, Carolina, MSc
Research Assistant
Carolina Domingos is a research assistant at Mafalda Bourbon’s Group (Cardiovascular Research Group), currently collaborating on the project Portuguese Familial Hypercholesterolemia Study.
She hold an MSc degree in Applied Microbiology and a BSc in Biology, both from the Faculty of Sciences of the University of Lisbon.
ORCID: 0009-0003-5722-3344
E-mail: carolina.domingos@insa.min-saude.pt
Alves da Silva, Pedro, MD
Researcher
Graduated from Lisbon Medical School, Universidade de Lisboa, Portugal (2017). Cardiology resident in Santa Maria Hospital, Lisbon, from 2019-2024. Approved in first year of Cardiac Rehabilitation masters from Lisbon Medical School. Fellowship in Preventive Cardiology and Cardiac Rehabilitation in Inselspital, Bern (2023). Cardiologist working in Cardiac Rehabilitation Department and Echocardiography lab since 2024. Portuguese ambassador for EAPC Young Community from 2024.
ORCID: 0000-0002-3524-908X
E-mail: pmsilva@edu.ulisboa.pt
Vaz, Margarida, BSc
Master Student
Margarida holds a BSc degree in Biomedical Laboratory Sciences from Escola Superior de Tecnologias da Saúde de Lisboa and a BSc degree in Biology – Molecular and Genetics from Faculdade de Ciências da Universidade de Lisboa. Between 2010 and 2015, she worked in a hospital setting at the Centro Hospitalar de Lisboa Oeste. In 2015, she began working as a senior technician at the National Institute of Health Dr. Ricardo Jorge, contributing in the MODY diabetes Study and in The Portuguese Study of Familial Hypercholesterolemia.
Currently, she is pursuing a master’s thesis in Human Biology and Environment at the Faculty of Sciences with the title “Application of Next-Generation Sequencing in the diagnosis of MODY diabetes.”
ORCID: 0009-0009-0159-158X
E-mail: margarida.vaz@insa.min-saude.pt
Correia, Bernardo, BSc
MSc student
Bernardo Correia is a MSc student in Clinical Laboratory Genetics from the Faculty of Medicine, University of Coimbra, Portugal.
He has a BSc in Biochemistry from the NOVA School of Science and Technology, Portugal.
He is currently working on his thesis, in Mafalda Bourbon’s Group (Cardiovascular Research Group), entitled “Functional characterization of APOB and LDLR variants of uncertain significance associated with hypercholesterolemia”.
ORCID: 0009-0009-9559-9901
E-mail: bernardo.correia@insa.min-saude.pt
Zeferino, Sofia, BSc
MSc student
Sofia is a MCs student in Molecular Biology and Genetics (Faculty of Sciences, University of Lisbon, Portugal) conducting her thesis on functional characterization of Familial Hypercholesterolaemia gene variants at the Mafalda Bourbon’s Lab (Cardiovascular Research Group – National Health Institute Doutor Ricardo Jorge) and at the Pfisterer Laboratory (Faculty of Medicine, University of Helsinki, Finland).
She holds a BCs in Biology, branch of Organismal and Evolutionary Biology, from Faculty of Sciences of the University of Lisbon, where she volunteered at Local Adaptation in Drosophila Research Group.
E-mail: sofia.zeferino@insa.min-saude.pt
Moura Ramos, Patrícia, BSc
Patrícia de Moura Ramos, currently Project Manager at Bourbon Lab Cardiovascular Research Group, has over twenty years of professional experience in the development and management of new projects, always within the healthcare sector.
Throughout her professional journey, she has been recognized internationally, notably at Walgreens Boots Alliance, where she received awards such as: “Make it Happen,” “Communications,” “Partnership,” “Best Team,” and “Project Development.”
She holds a degree in Economics from Faculdade de Economia de Universidade Nova de Lisboa and has completed an Executive Course in Luxury Brand Management at Instituto Superior de Economia e Gestão da Universidade de Lisboa. She also has additional training in leadership, media training, marketing and communication, and entrepreneurship.
E-mail: patricia.ramos@insa.min-saude.pt
INTERNATIONAL COLLABORATORS
Alain Carrie, Sorbonne University (SU)
Eric Sijbrands, Erasmus MC
Gilles Lambert, INSERM
Lale Tokgözoglu, Hacettepe Universitesi (HU)
Magdalena Daccord, FH Europe Foundation
Marianne Abifadel, Universite Saint-Joseph (USJ)
Marius Geanta, Centre for Innovation in Medicine (INOMED)
Meral Kayikcioglu, Ege Universitesi (EU)
Olivier Bluteau, Assistance Publique – Hôpitaux de Paris (APHP)
Peter Bosman, Stichting Nederlandse Wetenschappelijk Onderzoek Instituten (CWI)
Simon Pfisterer , University of Helsinki
Tamara Alagirova, 10Moncyte (MON)
Tania Alderliesten, Leiden University Medical Centre (LUMC)
Tomas Freiberger, Masarykova Univerzita (MU)
ONGOING PROJECTS
EPHF – Portuguese Familial Hypercholesterolemia Study
DFs – Familial Dislipidemias
DM – Molecular Study of Monogenic Diabetes
e_COR – Prevalence of cardiovascular risk factors in the Portuguese population
FunGen – Functional Genomics
PerMedFH – PerPersonalized Medicine for Familial Hypercholesterolaemia
FH EARLY – New Strategies for the Early Diagnosis, Risk Stratification and Co-Management of Familial Hypercholesterolemia
SELECTED PUBLICATIONS (2024-2025)
Kafol, J., Miranda, B., Sikonja, R., Sikonja, J., Wiegman, A., Medeiros, A. M., Alves, A. C., Freiberger, T., Hutten, B. A., Mlinaric, M., Battelino, T., FH-PeDS Collaborators , Humphries, S. E., Bourbon, M., & Groselj, U. (2025). Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS). European journal of preventive cardiology, zwaf352. Advance online publication. https://doi.org/10.1093/eurjpc/zwaf352
Konečná, K., Přerovská, T., Loja, T., Fajkusová, L., Koutná, J., Kramárek, M., Alves, A. C., Bourbon, M., Freiberger, T., & Tichý, L. (2025). Functional characterization of 16 variants found in the LDL receptor gene. Journal of lipid research, 66(9), 100873. Advance online publication. https://doi.org/10.1016/j.jlr.2025.100873
Elshorbagy, A., Vallejo-Vaz, A. J., Barkas, F., Lyons, A. R. M., Stevens, C. A. T., Dharmayat, K. I., Catapano, A. L., Freiberger, T., Hovingh, G. K., Mata, P., Raal, F. J., Santos, R. D., Soran, H., Watts, G. F., Abifadel, M., Aguilar-Salinas, C. A., Alhabib, K. F., Alkhnifsawi, M., Almahmeed, W., Alnouri, F., … Ray, K. K. (2025). Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry. European heart journal, 46(12), 1127–1140. https://doi.org/10.1093/eurheartj/ehae791
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC) (2024). Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study. The lancet. Diabetes & endocrinology, 12(11), 811–823. https://doi.org/10.1016/S2213-8587(24)00221-3
Mulder, J. W. C. M., Tromp, T. R., Al-Khnifsawi, M., Blom, D. J., Chlebus, K., Cuchel, M., D’Erasmo, L., Gallo, A., Hovingh, G. K., Kim, N. T., Long, J., Raal, F. J., Schonck, W. A. M., Soran, H., Truong, T. H., Boersma, E., Roeters van Lennep, J. E., & Homozygous Familial Hypercholesterolemia International Clinical Collaborators (2024). Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia. JAMA cardiology, 9(4), 313–322. https://doi.org/10.1001/jamacardio.2023.5597
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (2024). Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet (London, England), 403(10421), 55–66. https://doi.org/10.1016/S0140-6736(23)01842-1
Rossi, N., Syed, N., Visconti, A., Aliyev, E., Berry, S., Bourbon, M., Spector, T. D., Hysi, P. G., Fakhro, K. A., & Falchi, M. (2024). Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study. NPJ genomic medicine, 9(1), 36. https://doi.org/10.1038/s41525-024-00417-9
Medeiros, A. M., Alves, A. C., Miranda, B., Chora, J. R., Bourbon, M., & investigators of the Portuguese FH Study (2024). Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype. Journal of lipid research, 65(2), 100490. https://doi.org/10.1016/j.jlr.2023.100490