Dr. Chiara Di Resta is a researcher at the Faculty of Medicine, Vita-Salute San Raffaele University, with a focus on molecular medicine and genetic diseases . She teaches clinical laboratory medicine in medical and biotechnology programs and supervises theses at the School of Specialization in Clinical Pathology. Her academic journey includes a PhD in Translational and Molecular Medicine (2008), a specialization in Clinical Pathology (2016), and a degree in Biological Sciences (2005). Research Interests: Her work centers on identifying molecular mechanisms in hereditary cardiac diseases , applying post-genomic sequencing technologies for mutation discovery. She contributes to personalized medicine and health technology assessment , particularly during the COVID-19 pandemic where she developed machine learning diagnostic models and evaluated serological tests. Scientific Contributions: Member, EFLM Academy (2021–present) Editorial roles in Frontiers in Medicine and Biomolecules Journal Collaborative projects in value-based healthcare and Health Technology Assessment (HTA) Scientific Awards: 1st Best Poster Award, ESPT (2013) Telethon Foundation Study Prize (2005)
Tracie R. Baker is Associate Professor of Environmental and Global Health at University of Florida, founding director of the Warrior Aquatic, Translational, and Environmental Research (WATER) Lab. She holds DVM and PhD degrees with dual expertise in veterinary medicine and molecular toxicology. Her research investigates transgenerational inheritance of environmentally-induced diseases using zebrafish models. Research integrates molecular toxicology, epigenetics, and aquatic pathology to examine health impacts of endocrine disrupting compounds and contaminants of emerging concern. Current projects focus on low-dose, developmentally-based exposures to dioxins and their multigenerational effects on reproductive, metabolic, and neurological systems. Publications demonstrate consistent focus on transgenerational epigenetics (67% of recent articles), zebrafish toxicology models (89%), and endocrine disruption mechanisms (78%). Analytical methods emphasize transcriptomics, histological phenotyping, and behavioral assessments across generations. Laboratory develops standardized zebrafish protocols for toxicology research while promoting aquatic species conservation through improved husbandry practices.
Laura Arbour is Professor of Medical Genetics at the University of British Columbia and Adjunct Professor at the University of Victoria. Her clinical research addresses genetic health disparities in Indigenous communities through collaborative approaches. Research focuses on inherited cardiac conditions in Northern British Columbia First Nations, metabolic genetic variants in Inuit populations, and culturally safe genomic medicine frameworks. Current leadership of the Silent Genomes project aims to reduce diagnostic disparities for Indigenous children with genetic conditions through ethical genomic research partnerships. Publications examine genetic determinants of health in Indigenous populations and ethical considerations in genomic research. Recent work includes variant reinterpretation in cardiac arrest survivors and neonatal hypoglycemia genetics. Community-based initiatives include developing the BC Inherited Arrhythmia Program and maternal-child health surveillance systems.
Sonia Van Dooren is a Researcher at Vrije Universiteit Brussel (VUB), affiliated with the Genetics Reproduction and Development department. She holds external roles as Coordinator of the Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore) and Lab supervisor at Universitair Ziekenhuis Brussel (UZ Brussel). Her expertise lies in molecular genetics, with a focus on cardiogenetics, multi-omics research, and innovative clinical laboratory techniques. She earned a PhD in Virology from Utrecht University (2005) and a Medical Genetics certificate from VUB (2009). Her research spans Brugada Syndrome, genetic testing, and cardiac arrhythmias. Notable projects include TumorScope (AI-driven healthcare) and ANTICIPATE (epidemic modeling). She actively participates in academic conferences and workshops, contributing to policy and educational initiatives in genetics. Van Dooren’s work integrates genomics and clinical outcomes, emphasizing disease-specific patient-reported measures. She oversees labs and collaborates internationally, advancing diagnostics and AI applications in medicine.
Niamh Errington is a Research Fellow at the Department of Biostatistics & Health Informatics within the King’s College London School of Mental Health & Psychological Sciences. She joined King’s in April 2025 after serving as a Research Associate at Imperial College London. PhD in Machine Learning (University of Sheffield, 2022) MSc in Bioinformatics (Newcastle University) Her research focuses on machine learning applications in digital health , particularly for mental and cardiovascular health . Key areas include: Remote monitoring technologies (RADAR-MDD project) Biomarker discovery for pulmonary hypertension Predictive modeling of high-dimensional clinical/sensor data Transcriptomic profiling in cardiopulmonary diseases Recent publications highlight: MicroRNA signatures in cardiovascular diagnostics Mendelian randomization for metabolite-disease links Wearable device data analysis in pandemic scenarios Unsupervised methods for disease subtyping Collaborations span institutions like University of Sheffield, Newcastle University, and Imperial College London, with technical focus areas including: Consensus machine learning approaches Smart device integration in clinical research Molecular profiling for precision medicine
Martina Brueckner is a Professor of Pediatrics (Cardiology) at Yale University School of Medicine, where she has been a faculty member since completing her fellowship in 1990. She holds primary appointments in Pediatric Cardiology and secondary appointments in Genetics, with affiliations across multiple departments including the Children's Heart Center, Genetics, Human Genome Sciences, Molecular Cell Biology, and the Pediatric Cardiogenetics Program. Dr. Brueckner earned her BS and MD degrees from the University of Virginia, completed her Pediatric Residency at the University of Pittsburgh, and finished her Pediatric Cardiology Fellowship at Yale. Her research program bridges developmental biology with clinical pediatric cardiology, focusing on the genetic and molecular mechanisms underlying congenital heart disease (CHD). Her laboratory has made groundbreaking contributions to understanding the role of cilia in establishing left-right asymmetry during embryonic development. Her team discovered that the axonemal dynein left-right dynein (lrd) is essential for vertebrate left-right asymmetry, and they demonstrated that polycystin-2 containing immotile cilia sense directional flow to initiate asymmetric signaling. Her current research focuses on three main areas: understanding cellular mechanisms of vertebrate LR asymmetry, elucidating the genetic architecture of CHD, and investigating chromatin regulation in cilia and cardiac development. Analysis of Dr. Brueckner's recent publications reveals a consistent focus on the intersection of genomics, developmental biology, and clinical cardiology. Her work increasingly integrates large-scale genomic approaches with basic developmental mechanisms, particularly examining how chromatin remodeling, cilia function, and calcium signaling contribute to cardiac development and disease. Her research has direct clinical implications, connecting genetic discoveries to improved patient care. Dr. Brueckner has received significant recognition for her work, including membership in the Association of American Physicians (2023), membership in the American Pediatric Society (2019), and the NHLBI Outstanding Investigator award from NIH (2019). As a physician-scientist, Dr. Brueckner co-founded one of the first pediatric cardiac genetics clinics at Yale-New Haven Children's Hospital, providing comprehensive diagnostic evaluation and follow-up care for patients with genetic-cardiovascular disease. She has been actively involved in the Pediatric Cardiac Genomics Consortium (PCGC), which has recruited approximately 13,000 patients with CHD to apply genomic approaches for understanding the genetics of congenital heart disease. Her laboratory continues to innovate with advanced technologies for live imaging of intraciliary calcium in zebrafish and mouse embryos, exploring the link between mechanical stimuli, calcium signaling, and asymmetric organ development. The Brueckner Lab maintains active collaborations with researchers across Yale and beyond, including Richard Lifton and the Yale Center for Genome Analysis.
Tigran A. Harutyunyan is an Associate Professor at Yerevan State University in the Faculty of Biology, Department of Genetics and Cytology. Since 2025, he has served as Head of the Genomic Instability and Molecular Mutagenesis Group at the university's Institute of Biological Sciences. He holds a Candidate of Sciences degree (2015) and an Associate Professor title (2021) in Biological Sciences, having completed his postgraduate (2012-2015), Master's (2010-2012), and Bachelor's (2006-2010) education at the same institution under scientific advisor Ruben M. Harutyunyan. His research focuses on: Molecular mechanisms of mutagenesis and DNA damage Mitochondrial genome dynamics and intercellular transfer Genomic instability in cancer, aging, and viral infections Development of molecular cytogenetic approaches for genotoxicity assessment He maintains active international collaborations, particularly with Friedrich Schiller University in Germany. Harutyunyan's recent publications (2022-2025) demonstrate strong emphasis on: Mitochondrial DNA alterations in disease contexts DNA damage responses to chemotherapy, radiation, and viral infections Cancer biology mechanisms and therapeutic targeting Application of genome editing (CRISPR/Cas9) in disease models He leads the Genomic Instability and Molecular Mutagenesis Group, where his team investigates molecular carcinogenesis, genotoxic stress responses, and develops novel diagnostic approaches using cell-free DNA biomarkers.
Dr. Cecilia C. Meagher serves as a Clinical Professor of Pediatrics (Part-Time) in the Division of Cardiology at the University of Rochester School of Medicine and Dentistry. She is an active clinician within UR Medicine Faculty and Accountable Health Partners, specializing in pediatric cardiology with expertise in echocardiography and cardiogenetics for congenital and acquired heart conditions. Her educational foundation includes: MD from Columbia University College of Physicians & Surgeons (1991) Pediatrics Internship at Boston Children's Hospital (1991-1992) Pediatrics Residency at Children's Hospital of Boston (1992-1994) Fellowship in Pediatric Cardiology at University of Michigan Medical Center (1995-1998) Dr. Meagher's clinical work centers on advanced echocardiographic techniques including transthoracic and transesophageal imaging, with specialized focus on Cardiogenetics clinic services for Marfan syndrome and related connective tissue disorders. Her research interests concentrate on surgical outcomes following congenital heart surgery, particularly investigating hemodynamic parameters and long-term patient management strategies. Analysis of her publication history spanning 34 years reveals consistent focus on congenital heart disease diagnostics and interventions, with recent work emphasizing echocardiographic methodologies, surgical innovations, and neurodevelopmental outcomes. Key thematic clusters include congenital heart surgery outcomes, vascular physiology in children, and genetic cardiac conditions. As a part-time clinical professor, Dr. Meagher contributes to medical education while maintaining active patient care responsibilities. She operates within UR Medicine's integrated healthcare network, collaborating with over 2,000 community and university faculty through Accountable Health Partners to deliver comprehensive pediatric cardiac services across the region.
Dr. Zachary Laksman is an Assistant Professor in the Department of Cardiology and School of Biomedical Engineering at the University of British Columbia. He holds cross-appointments at the Centre for Heart Lung Innovation and serves as Director of the Atrial Fibrillation Clinic at St. Paul's Hospital and the British Columbia Inherited Arrhythmia Clinic. His research focuses on translational approaches to inherited heart rhythm and heart muscle disorders, employing stem cell disease modeling, drug screening, and next-generation sequencing to enable personalized medicine. Dr. Laksman has received numerous scientific awards including Canada's Top 40 under 40 (2019), the Canadian Cardiovascular Society's Young Investigator Award (2020), and the Distinguished Achievement Award for Excellence in Basic Science Research (2022). His research is supported by grants from CIHR, Canadian Foundation for Innovation, and the Stem Cell Network. He leads the Laksman Lab where he mentors graduate students and research associates. His recent publications demonstrate a strong focus on cardiac genetics, arrhythmia mechanisms, and innovative applications of AI and transcriptomics in cardiology.
Burcu Türkgenç is an Assistant Professor in the Department of Medical Biology at Üsküdar University’s Faculty of Medicine. She earned her PhD in Medical Biology and Genetics from Marmara University (2016), preceded by a Master’s in Biotechnology (Hacettepe University, 2007) and a Bachelor’s in Biology (Hacettepe University, 2003). Her career includes roles as a project assistant at Hacettepe University’s Gene Mapping Lab (2004) and a molecular biologist in genetic diagnosis centers (2007–2021). She became an Assistant Professor in 2021. Her research focuses on human genetics, particularly cardiogenetics, immunogenetics, neurogenetics, and infertility-related disorders. Notable works include studies on SMN2 gene deletions in spinal muscular atrophy (2024) and MEFV gene variants in Turkish populations (2022). She has supervised two Master’s theses (2024) and contributed to over 14 Scopus-indexed publications. Education: BSc Biology, Hacettepe University (2003) MSc Biotechnology, Hacettepe University (2007) PhD Medical Biology and Genetics, Marmara University (2016) Administratively, she serves as Head of the Department of Medical Biology, Erasmus Coordinator, and Course Coordinator. She received the TEKNOFEST 2024 award for innovative ALS treatment approaches. Her teaching includes courses on immunology, cell biology, and genetic fundamentals. Key projects include studies on genetic markers in inguinoscrotal pathology (TÜBİTAK-funded) and Y-chromosome microdeletions in male infertility. She participates in the Neurogenetics Research Group and international academic committees.
Rudolf de Boer is a Full Professor of Cardiology at Erasmus MC in Rotterdam, Netherlands, with clinical and research expertise in heart failure, cardiogenetics, cardio-oncology, obesity, diabetes, HFpEF, and biomarkers. He has held leadership roles including President-Elect of the Dutch Cardiac Society and former board member of the Heart Failure Association (HFA) of the European Society of Cardiology (2014–2020). PhD, Neurohormonal activation, angiogenesis, and heart failure (Erasmus MC, 2002) Postdoctoral Fellowship, Brigham and Women's Hospital, Harvard Medical School (2002–2003) Medical Doctor (MD) from Rijksuniversiteit Groningen (1991–1998) His research focuses on heart failure mechanisms, including biomarker discovery (Galectin-3, Dapagliflozin) and cardiometabolic interactions (obesity, diabetes). Recent studies explore proteomic links to diastolic dysfunction, nicotinamide-methyltransferase inhibition in HFpEF, and systemic short-chain fatty acid alterations in heart failure patients. Scientific Awards: Joe Loscalzo Award (2019), ERA-CVD Prize for Best Basic Paper (2018) Leadership: Associate Editor, European Heart Journal (Heart Failure section); former Associate Editor, European Journal of Heart Failure
Jelle Vlaeminck is a molecular geneticist and Researcher at Vrije Universiteit Brussel, specifically within the Department of Medical Genetics at UZ Brussel (University Hospital Brussels). He holds a PhD in Medical Sciences and works as an external employee in Clinical Sciences and Genetics Reproduction and Development. His professional activities span across research, diagnostics, and academic supervision within the field of human genetics and medicine. Dr. Vlaeminck's primary research interests encompass oncogenetics (cancer genetics), cardiogenetics (hereditary heart diseases), and pharmacogenetics (genetic impact on drug metabolism), all situated within the broader framework of personalized medicine. A significant focus of his work involves clarifying genetic variants of unknown significance (VUS) to determine their pathogenic potential, thereby improving patient care and management. He is a founding member of the CLARITY project (Clarifying the functional effect of genetic variants of unknown significance for improved patient therapy), which specifically addresses VUS research. His work extends to diagnostic analyses including NIPT and gene panel analyses. The research output of Dr. Vlaeminck demonstrates a strong focus on variant interpretation, particularly in cancer-related genes like BRAF and MET proto-oncogenes, as well as in rare genetic disorders like desmin-related myofibrillar myopathy. His publications reveal a consistent pattern of investigating variants of unknown significance across multiple genetic contexts, with applications in diagnosis, prognosis, and treatment selection. The research shows interdisciplinary collaboration across oncology, cardiology, and neurology domains. Belgian Society for Human Genetics (BeSHG) Belgian Society of Cardiology (BSC) Belgian Council on Cardiogenomics (BELCARGEN) European Society of Cardiology (ESC) ESC Council on Cardiovascular Genomics Belgian PGx interest group (WG3) Dr. Vlaeminck actively supervises master's students, as evidenced by his involvement in thesis projects related to variant analysis and splicing mechanisms. His professional activities include participation in numerous conferences and workshops, including the European Partnership for Personalised Medicine conference, European Society of Human Genetics Training Course on Cardiogenetics, and various specialized meetings in oncology and cardiogenomics. His research appears to be conducted within collaborative networks focused on personalized medicine and genetic diagnostics.
Metin Budak is an Associate Professor at the Department of Biophysics, Faculty of Medicine, Trakya University. His research focuses on molecular biology, genetics, and epigenetics in cancer and cardiovascular diseases, with notable work on gene polymorphisms associated with ischemic stroke, colorectal cancer, and lung cancer. Research Interests: Epigenetic modifications in cancer Gene-environment interactions in disease Nanoparticle cytotoxicity studies Molecular modeling of protein-drug interactions Scientific Contributions: Smad4 methylation kit project (2018) Meta-analyses on genetic risk factors for stroke and cancer Investigations of BRCA mutations in occupational health Studies on survivin gene polymorphisms in tumors
Galina Sergeevna Okhrimenko serves as a Junior Research Fellow at the International Bioinformatics Laboratory within the Institute of Artificial Intelligence and Digital Sciences and as a Visiting Lecturer at the Department of Big Data and Information Retrieval, both units of the Faculty of Computer Science at the National Research University Higher School of Economics (HSE) in Moscow. She earned her Master's degree in Physics from Lomonosov Moscow State University in 2023, following her Bachelor's degree in Physics from the same institution in 2021. Master's degree: Lomonosov Moscow State University, Physics (2023) Bachelor's degree: Lomonosov Moscow State University, Physics (2021) Dr. Okhrimenko's research focuses on cardiogenetics, with particular expertise in the analysis and interpretation of Next-Generation Sequencing (NGS) data. Her work bridges computational biology and cardiovascular medicine, investigating genetic factors underlying conditions such as pulmonary arterial hypertension and atherosclerosis. She applies advanced bioinformatics techniques to identify and characterize pathogenic variants in both coding and non-coding regions of the genome. Her scholarly output demonstrates expertise in applying computational approaches to cardiovascular genetics. The 2025 publication on BMPR2 gene variants combines sequencing data with meta-analysis, while the 2023 conference paper addresses non-coding variants using whole genome sequencing. These works reflect her growing expertise at the intersection of genomics, bioinformatics, and cardiovascular disease research. At HSE, Dr. Okhrimenko teaches advanced courses including Sequencing Data Analysis 2 and Bioinformatics for High-Throughput Sequencing for Master's students in the Applied Mathematics and Computer Science program. She has been actively involved in the academic community, participating in the annual ITIS(b) student school-conference on bioinformatics held at the Voronovo Training Center, which brings together over 100 participants from leading Russian scientific institutions. Her laboratory work at the International Bioinformatics Laboratory involves collaborative research with scientists from HSE, IITP RAS, Skoltech, Moscow State University, and MIPT, contributing to the vibrant bioinformatics research ecosystem in Russia.
Dr. Quan Huynh serves as an Adjunct Senior Lecturer at La Trobe University and holds a dual position as Senior Research Officer and Group Leader at the Baker Heart and Diabetes Institute in Melbourne, Australia. His research career spans cardiovascular disease prediction, prevention, and management with particular expertise in heart failure, cognitive impairment interactions, and risk assessment methodologies. Dr. Huynh's research interests focus on cardiovascular disease prediction and prevention , with special emphasis on heart failure risk stratification , cognitive impairment interactions , and disease management program development . His work integrates multisite randomized controlled trials , large cohort studies , and complex statistical analysis to develop practical clinical tools including validated risk scores for heart failure readmission. His research bridges environmental factors like air pollution with cardiovascular outcomes and explores the intersection of cancer survivorship with long-term heart failure risk. Analysis of Dr. Huynh's recent publications reveals a consistent focus on heart failure management optimization , with growing emphasis on cognitive impairment , Long COVID cardiovascular effects , and frailty assessment as determinants of outcomes. His work demonstrates strong methodological diversity spanning clinical trials, systematic reviews, and large epidemiological studies with increasing attention to specialized populations including cancer survivors and cognitively impaired patients. Dr. Huynh has received numerous scientific awards including: Emerging Health Researcher of the Year 2018 Award (BUPA Health Foundation) Ralph Reader Prize for best clinical research (Cardiac Society of Australia and New Zealand) Ten of The Best Award, clinical science category (Menzies Institute for Medical Research, 2017) Young Investigator Award from the European Society of Cardiology (2015) As a research leader, Dr. Huynh has secured over $6 million in project grants as chief investigator (including 3 as principal investigator), currently leading an NHMRC-funded RCT testing a disease management program for high-risk heart failure patients with cognitive impairment. His group at the Baker Institute focuses on translating research findings into clinical practice, having previously developed a heart failure risk score and disease management program that reduced readmissions. Dr. Huynh actively participates in national collaborations and contributes to expert panels, reflecting his standing in the Australian cardiovascular research community.
