NEW STRATEGIES FOR THE EARLY DIAGNOSIS, RISK STRATIFICATION AND CO-MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLEMIA

Project Information

FH-EARLY

Grant agreement ID: 101155885

DOI

10.3030/101155885

EC signature date 30 November 2024

Start date 1 January 2025

End date 31 December 2028

Funded under

• Health

Total cost

No data

EU contribution

€ 7 286 252,25

Coordinated by

Associação para Investigação e Desenvolvimento da Faculdade de Medicina
Portugal

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Conference proceedings (8)

EFFECT OF HIGH INTENSITY STATIN MEDICATION ON CIRCULATING FOAMY MONOCYTES IN HEALTHY INDIVIDUALS

Author(s): Siina Pamilo, Iris Lähdeniemi, Anssi Mykkänen, Marc Sunden, Mikko Neuvonen, Tamara Alagirova, Mikko Niemi, Simon Pfisterer
Published in: Atherosclerosis
Publisher: Elsevier

PO99 Re-classification of LDLR Variants through High-Throughput Functional Characterisation: Advancing Diagnosis in Familial Hypercholesterolaemia

Author(s): Mohammad Majharul Islam, Ana Catarina Alves, Simon Pfisterer, Mafalda Bourbon
Published in: European Journal of Preventive Cardiology, 2026
Publisher: European Journal of Preventive Cardiology

EXPANSION OF IN-DEPTH FUNCTIONAL CHARACTERIZATION OF LDLR GENE VARIANTS AND IMPLICATIONS FOR CARDIOVASCULAR RISK ASSESSMENT

Author(s): Zohreh Pourkarami, Faezeh Saaeyekta, Mohammad Islam, Joana Chora, Secil Beyraktar, Sofia Zeferino, Mafalda Bourbon, Simon Pfisterer, Ana Catarina Alves
Published in: Atherosclerosis
Publisher: Elsevier

CHARACTERIZATION OF LIPID DROPLETS AND INFLAMMATION IN FOAMY MONOCYTES IN SEVERE HYPERTRIGLYCERIDEMIA

Author(s): Jing Xiao, Veronica O’Brien, Benjamin Litchfield, Feng Gao, Xueying Peng, Zeqin Lian, Arsalan Hamid, Chao Cheng, Yanming Li, Ying H Shen, Xinchun Pi, Tamara main Alagirova, Christie M Ballantyne, Simon Pfisterer, Huaizhu Wu
Published in: Journal of the American College of Cardiology, 2025
Publisher: Elsevier

c-Rel–Mediated Lipid Accumulation and Inflammatory Activation in Monocytes in Hypertriglyceridemia

Author(s): Jing Xiao, Veronica OBrien, Benjamin Litchfield, Feng Gao, Arsalan Hamid, Cheng Chao, Yanming Li, Ying Shen, Xinchun Pi, Tamara Alagirova, Iris Lahdeniemi, Ron Hoogeveen, Christie Ballantyne, Simon Pfisterer, Huaizhu Wu
Published in: Circulation, 2025
Publisher: Lippincott Williams & Wilkins

UTILIZATION OF FUNCTIONAL DATA FOR LDLR VARIANT CLASSIFICATION: COMPARATIVE INSIGHTS FROM HIGH-CONTENT MICROSCOPY AND FLOW CYTOMETRY ASSAYS

Author(s): Mohammad Islam, Ana Catarina Alves, Mafalda Bourbon, Simon Pfisterer
Published in: Atherosclerosis
Publisher: Elsevier

Linking cellular lipid trafficking profiles of individuals to the outcomes of statin treatment in the general population

Author(s): S Pfisterer, IH Hlushchenko, MMI Islam, MT Tamlander, SR Ripatti
Published in: European Heart Journal, 2025
Publisher: Oxford University Press

A-231 A novel assay measuring leukocyte lipid uptake and storage for treatment optimization in dyslipidemia and cardiovascular risk assessment

Author(s): Tamara Alagirova, Iryna Hlushchenko, Mohammad Majharul Islam, Max Tamlander, Samuli Ripatti, Tamara Alagirova, Simon Georg Pfisterer
Published in: Clinical chemistry, 2025
Publisher: Oxford University Press

Other (2)

Lipoproteins modulate the uptake and biological function of cationic cell-penetrating peptides across the animal lineage

Author(s): Sovanny R. Taylor, Temilade V. Oluwasesin, Muthu Raj Salaikumaran, Borna Novak, Adam Briner, Roshan Ailani, Pilar I. Andrade, Paulo L. Onuchic, Olivia M. S. Carmo, Garam Kim, Jacob A. Blum, Mason Galliver, Catherine Stuart, Nicolas Mendez, Vedant Patel, Guo-Teng Liang, Ronan O’Connell, Mohammad Majharul Islam, Zeinab Kashaniasl, Maria Jose Villar, Yingqiong Cao, Xi-Lei Zeng, Lucas Porta, Haoyun Yang, Gabe Hohensee, Misha Kavalur, Rachel N. Arey, Sarah E. Blutt, Ewan K. S. McRae, Radbod Darabi, Lilei Zhang, Kathryn Jones, Simon G. Pfisterer, Chad Johnston, Jeroen Pollet, Mirian A. F. Hayashi, Aaron D. Gitler, Hyun-Kyoung Lee, Alex S. Holehouse, Steven J. Ludtke, Steven Boeynaems
Published in: 2026
Publisher: openRxiv
DOI: 10.64898/2026.08.23.746575

Functional data for <i>LDLR</i> variant classification: comparative insights from high-content microscopy and flow cytometry assays

Author(s): Mohammad Majharul Islam, Ana Catarina Alves, Rafael Graça, Joana Rita Chora, Mafalda Bourbon, Simon G. Pfisterer
Published in: 2026
Publisher: openRxiv
DOI: 10.64898/2026.05.09.26352817

Peer reviewed articles (2)

Update on genetics of familial hypercholesterolemia

Author(s): Tomas Freiberger
Published in: Current Opinion in Lipidology, Issue 37, 2026, ISSN 0957-9672
Publisher: Ovid Technologies (Wolters Kluwer Health)
DOI: 10.1097/MOL.0000000000001027

The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>

Author(s): Daniel R. Tabet, Atina G. Coté, Megan C. Lancaster, Jochen Weile, Ashyad Rayhan, Iosifina Fotiadou, Nishka Kishore, Roujia Li, Da Kuang, Jennifer J. Knapp, Carmela S. Carrero, Olivia Taverniti, Anna Axakova, Jack M. P. Castelli, Mohammad M. Islam, Shahin Sowlati-Hashjin, Aanshi Gandhi, Ranim Maaieh, Michael Garton, Kenneth Matreyek, Douglas M. Fowler, Mafalda Bourbon, Simon G. Pfisterer, Andrew M. Glazer, Brett M. Kroncke, Victoria N. Parikh, Euan A. Ashley, Joshua W. Knowles, Melina Claussnitzer, Elizabeth T. Cirulli, Robert A. Hegele, Dan M. Roden, Calum A. MacRae, Frederick P. Roth
Published in: Science, Issue 391, 2025, ISSN 0036-8075
Publisher: American Association for the Advancement of Science (AAAS)
DOI: 10.1126/SCIENCE.ADY7186