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Norma FrizzellView profile

Professor

• Mitochondrial Metabolism
• Protein Modification
• Redox Biology
• +5 more

Norma Frizzell, Ph.D., is a Professor in the Department of Pharmacology, Physiology & Neuroscience at the University of South Carolina School of Medicine. Her research focuses on the chemical modification of proteins by mitochondrial metabolites, particularly the non-enzymatic succination of cysteine residues by fumarate. She has made significant contributions to understanding how metabolic alterations in mitochondrial disorders like Leigh Syndrome and in diabetes lead to pathological protein modifications. B.Sc. in Biochemistry, Queen's University of Belfast, Northern Ireland Ph.D. in Biochemistry, Queen's University of Belfast, Northern Ireland Postdoctoral Training, University of Ulster and University of South Carolina Her work investigates the role of fumarate and protein succination in mitochondrial encephalopathies and metabolic diseases. She was the first to document increased brainstem and olfactory bulb succination in a murine model of Leigh Syndrome and to study succination of adipocyte proteins in diabetes. Her research bridges redox biology, metabolism, and disease mechanisms, with implications for therapeutic interventions in neurodegenerative and metabolic disorders. Recent publications reveal her focus on mitochondrial stress, metabolic crosstalk, and the impact of oncometabolites. Her work spans proteomics, cell signaling, and disease models, with studies in diabetes, cancer, neuroinflammation, and infectious disease. She frequently collaborates on chemoproteomic and redox biology projects. Scientific contributions include: Pioneering research on protein succination in diabetes Discovery of mitochondrial-ER stress links via succination Elucidation of fumarate’s role in neurodegeneration and tumor suppression Development of chemoproteomic methods to profile oncometabolites Dr. Frizzell has mentored researchers such as Dr. Gerardo Piroli and collaborates with interdisciplinary teams. Her work is supported by ongoing publications in high-impact journals, indicating active research and funding. She has no listed awards in the provided text, but her publication record in journals like Nature , Redox Biology , and Cancer Research underscores her scientific impact. She leads a research laboratory focused on the succinated proteome and metabolic signaling, contributing to both basic science and translational applications in metabolic and neurological diseases.

Daniel C LeeView profile

Associate Professor

• Neurodegenerative Diseases
• Alzheimer's Disease
• Tauopathies
• +12 more

Daniel C. Lee, PhD, is an Associate Professor in the Department of Neuroscience at the University of Kentucky College of Medicine, where he is affiliated with the Sanders-Brown Center on Aging. He joined UK in 2019 after serving as an Associate Professor and Director of Neurodegenerative Sciences at the University of South Florida College of Pharmacy. He holds the William N. Sanders Endowed Chair in Geriatric Pharmacotherapy and co-directs the UK-ADRC Research Education Component. Education: B.S. in Chemistry, Lincoln University (1999) Ph.D. in Pharmaceutical Sciences/Neuropharmacology, Florida A&M University (2005) Postdoctoral Training, University of South Florida College of Medicine Dr. Lee's research focuses on the intersection of neuroinflammation, arginine metabolism, polyamine biology, and protein citrullination in Alzheimer's disease and tauopathies. His lab investigates how metabolic dysregulation contributes to protein aggregation, impaired autophagy, and neurodegeneration. Key areas include the role of endogenous polyamines in inhibiting tau aggregation, the function of the GPRC6a receptor in arginine sensing and mTORC1 signaling, and the pathological consequences of tau citrullination. His recent publications highlight a multidisciplinary approach using transgenic models, pharmacology, and molecular tools to uncover mechanisms in neurodegeneration. Common themes include nutrient sensing deficits, post-translational modifications of tau, and therapeutic targeting of metabolic pathways in dementia. Scientific Awards and Honors: William N. Sanders Endowed Chair in Geriatric Pharmacotherapy Dr. Lee has secured primary funding from major institutions including NIH/NIA (R01, R21), Alzheimer’s Association, Michael J. Fox Foundation, Bright Focus Foundation, and the Florida Department of Health. He actively mentors trainees and leads educational initiatives through the UK-ADRC REC. His lab emphasizes scientific integrity, curiosity, and inclusivity, welcoming motivated individuals to advance research in neurodegenerative diseases. The lab employs a range of techniques including genetically engineered mouse models, adeno-associated viral gene therapy, small molecule pharmacology, and bioinformatics to study proteostasis and develop novel therapeutics for Alzheimer's and related disorders.

Dennis W. DicksonView profile

Professor

• Neuropathology
• Neurodegenerative Disorders
• Alzheimer's Disease
• +12 more

Dennis W. Dickson, M.D., is a Professor of Laboratory Medicine and Pathology at Mayo Clinic in Jacksonville, Florida, where he serves as a Consultant in the Department of Neuroscience. He leads the Mayo Clinic brain bank, a major national resource for neuropathological research, and directs an American Parkinson Disease Association Center for Advanced Research. His work is pivotal in understanding the pathology of neurodegenerative disorders through extensive collaboration with institutions like the National Institute on Aging, Albert Einstein College of Medicine, and the Brain Support Network. Education: MD, University of Iowa Clinical Fellowship, Department of Pathology, Albert Einstein College of Medicine Residency and Chief Residency, Department of Pathology, Bronx Municipal Hospital Center Dr. Dickson’s research focuses on the neuropathological underpinnings of Alzheimer’s disease, Parkinson’s disease, Lewy body dementia, progressive supranuclear palsy, frontotemporal dementia, and TDP-43 proteinopathies. His team utilizes advanced techniques such as histology, immunohistochemistry, electron microscopy, and genetic analysis to characterize brain tissue from longitudinal studies and transgenic models. His work has been instrumental in defining molecular and pathological signatures of these diseases, bridging clinical and pathological findings. The most recent publications highlight ongoing research into tau isoforms in Pick’s disease, PINK1 assays for Parkinson’s, neuroimaging in PSP, and transcriptional differences between Lewy body and Alzheimer’s diseases. These studies reflect a strong trend toward molecular diagnostics, biomarker discovery, and clinicopathological correlation across neurodegenerative conditions. Scientific Awards: Robert E. Jacoby Professor for Alzheimer's Research, Mayo Clinic (2010) Potamkin Prize, American Academy of Neurology (2011) Award for Meritorious Service, American Association of Neuropathologists (2016) Award for Medical Research, Metropolitan Life (2001) President, American Association of Neuropathologists (2001–2002) Dr. Dickson has secured significant grant funding, including multiple awards from the National Institute on Aging, supporting projects such as ‘Clinicopathological Studies’ and the ‘Neuropathology Core.’ He mentors a large research team and collaborates with leading scientists like Owen A. Ross, Nilufer Ertekin-Taner, and Marka M. Van Blitterswijk. His lab contributes frozen and fixed brain tissues to qualified researchers globally, advancing translational science. He oversees the CurePSP Brain Bank and contributes to major research centers including the Mayo Clinic Alzheimer's Disease Research Center and the Mayo Clinic Study of Aging. His work ensures high-quality neuropathological diagnosis, providing closure to families and feedback to clinicians, while driving the development of targeted therapies and prevention strategies.

Owen A. RossView profile

Professor

• Neurogenetics
• Parkinson's Disease
• Genetics of Aging
• +14 more

Owen A. Ross, Ph.D., is a Professor of Neuroscience and a Consultant in the Department of Neuroscience at Mayo Clinic, Jacksonville, Florida. He also holds the administrative appointment of Senior Associate Consultant II in the Department of Medical Genetics. He leads two major research laboratories: the Parkinson’s Disease Laboratory and the Stroke and Vascular Disease Laboratory, both focused on the genetics of aging and neurodegenerative disorders. Education: Ph.D. in Genetics, University of Ulster MMedSc in Laboratory Science, Genetics and Gerontology, Queen’s University, Belfast BSc in Biochemistry (Honors), Queen’s University, Belfast Dr. Ross’s research centers on the genetic mechanisms underlying Parkinson’s disease, stroke, and related neurodegenerative conditions. His work has been pivotal in characterizing the LRRK2 and SNCA genes, identifying functional risk factors in both familial and sporadic Parkinson’s disease, and discovering novel genes associated with movement disorders. His lab investigates mitochondrial DNA variation, immunogenetics, and neuroinflammation, with a strong emphasis on translational neuroscience and individualized medicine. Using high-throughput automation, RT-QuIC, and multi-omic bioinformatics, his team analyzes genetic and molecular data from global cohorts. The recent research trends, as reflected in his latest publications, focus on polygenic risk scoring in Parkinson’s subtypes, transcriptomic distinctions between Lewy body disease and Alzheimer’s, mitochondrial genomics in aging, and novel genetic loci in multiple system atrophy and Pick’s disease. His work increasingly integrates iPSC models, organoids, and gut microbiome analysis to understand disease mechanisms and identify therapeutic targets. Dr. Ross collaborates extensively with international researchers and is affiliated with key centers at Mayo Clinic, including the Alzheimer’s Disease Research Center and the Robert and Arlene Kogod Center on Aging. He has published over 450 peer-reviewed articles in high-impact journals such as Brain , Nature Genetics , and Science Advances . He actively mentors researchers and offers training opportunities in his laboratories. His leadership in large-scale consortia underscores his role in advancing collaborative neuroscience research.

Yongjie ZhangView profile

Associate Professor

• Neuroscience
• Neurodegenerative Diseases
• Frontotemporal Dementia (FTD)
• +11 more

Yongjie Zhang, Ph.D., is an Associate Professor in the Department of Neuroscience at Mayo Clinic, Jacksonville, Florida. He leads a research laboratory focused on understanding the molecular and cellular mechanisms underlying frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two fatal neurodegenerative disorders that share pathological and genetic features. His work integrates molecular biology, functional assays, and animal modeling to uncover disease pathways and develop novel therapeutic strategies. Dr. Zhang earned his Ph.D. in Neuroscience from Tongji Medical College & Hua-Zhong University of Science and Technology (HUST), an M.S. in Microbiology from Xiamen University, and a B.S. in Biology from Hebei Normal University. His research centers on the pathogenic roles of aggregation-prone proteins, particularly TDP-43 and C9orf72 dipeptide repeat (DPR) proteins. He has developed novel mouse models expressing individual DPR proteins to dissect their specific contributions to neurodegeneration, stress granule dynamics, and behavioral deficits. A key focus is understanding how DPR proteins and TDP-43 co-aggregate in stress granules and drive proteinopathy. He also investigates genetic modifiers and antisense oligonucleotides (ASOs) as potential therapeutics for C9orf72-associated FTD and ALS. Analysis of Dr. Zhang’s recent publications reveals a strong emphasis on TDP-43 pathology, DPR protein toxicity, stress granule biology, and biomarker discovery. His work spans from basic molecular mechanisms to translational applications, including antibody development and therapeutic targeting. There is a consistent trajectory toward identifying and validating novel targets for intervention in ALS and FTD. Target ALS Foundation Grant Program (2017–2019, 2020–2022) ALS Association Research Grant (2014–2017, 2015–2018) Alzheimer's Association New Investigator Research Program (2014–2016) AFAR Affiliate Research Grant Program (2009–2010) Dr. Zhang has served as Principal Investigator (PI) on multiple significant grants, including NIH/NINDS and Alzheimer’s Association projects, demonstrating sustained funding and leadership in neurodegeneration research. His lab actively collaborates with prominent researchers at Mayo Clinic, such as Dr. Leonard Petrucelli and Dr. Tania Gendron. He leads a research team investigating disease mechanisms and therapeutic strategies, supported by active projects on poly(ADP-ribose) in DPR toxicity, mechanisms of DPR-induced cell death, and TDP-43 function.

• Glycobiology
• Glycoengineering
• Vaccine Development
• +5 more

Sherif Abouelhadid is a DL Tutor in Infection Biology at the London School of Hygiene & Tropical Medicine (LSHTM) and a Research Fellow since 2019. He previously worked on Salmonella Typhi vaccine development in Egypt and joined LSHTM's Wren Lab as a Research Assistant before pursuing his PhD in glycobiology. His current roles include Deputy Director of LSHTM's Antimicrobial Resistance Centre and Head of its Biological & Pharmacological Sciences Pillar. Education: PhD (2019) at LSHTM Diploma in Biotechnology (2008) at Alexandria University BSc in Pharmaceutical Sciences (2006) at Misr University for Science & Technology Research interests span two areas: basic biology focuses on N-linked glycans' biological roles and glycosylation systems in organisms like Campylobacter jejuni , while applied science targets vaccine development and humanized glycoproteins using bacterial enzymes. His work bridges fundamental glycobiology with translational applications. Article trends (15 most recent) highlight glycoengineering innovations, vaccine platforms (Streptococcus, Shigella, poultry pathogens), bacterial N-glycosylation mechanisms, and antimicrobial resistance links. Key disciplines include Vaccinology, Biochemistry, and Molecular Biology. Grants include a LSHTM-funded project (2021-2022) for Shigella sonnei vaccine development. He serves as a reviewer for Microorganisms and co-founded The Per-Ankh Foundation for Science & Philosophy in 2012.

Kevin M. HaigisView profile

Professor

• Cancer Biology
• RAS Signaling
• Colorectal Cancer
• +6 more

Kevin M. Haigis is a Professor of Medicine at Harvard Medical School and serves as the Chief Scientific Officer at the Dana-Farber Cancer Institute. His work bridges experimental and computational approaches to understand the molecular basis of gastrointestinal cancers, particularly focusing on RAS signaling pathways. Research Interests: RAS signaling in cancer Genetic and signaling networks in tumorigenesis Therapeutic responses in colorectal cancer Inflammation and cancer interplay His research integrates genetically engineered mouse models and human cancer systems with computational and informatic tools to dissect oncogenic mechanisms. The recent publications highlight a strong emphasis on post-translational regulation of mutant KRAS, tissue-specific oncogenicity, and cross-species proteogenomic modeling, pointing to a trajectory toward precision oncology and targeted therapy development. Scientific Awards: Robert Black Fellow, Damon Runyon Cancer Research Foundation Howard Temin Award K01, National Cancer Institute Dr. Haigis leads a multidisciplinary research program at Dana-Farber, mentoring trainees and collaborating with leading cancer scientists. His work is supported by major grants from the NCI and other institutions, enabling translational research from bench to bedside. He has played key roles in identifying novel regulatory mechanisms of RAS and developing strategies to target previously undruggable oncogenes. Laboratories and Collaborative Teams: Dr. Haigis leads a research laboratory at Dana-Farber that fosters collaboration with experts in proteomics, chemical biology, and cancer genomics. His team works closely with investigators such as William C. Hahn, Nathanael Gray, Joseph Mancias, and others in the Broad Institute and Dana-Farber community.

• Pharmacology
• Toxicology
• Cardiovascular Research
• +3 more

Niels Pietsch is a researcher at the Institute of Experimental Pharmacology and Toxicology within the Medical Faculty of University Medical Center Hamburg-Eppendorf (UKE). His work focuses on molecular mechanisms in cardiovascular and neurological contexts. Research Interests: Investigating tubulin post-translational modifications in cardiac and neuronal function Modeling genetic cardiomyopathies using human iPSC-derived cardiomyocytes Studying proteopathy mechanisms in cardiac diseases Translational pharmacology of inotropic compounds Publication Trends: His recent work emphasizes cytoskeletal dynamics, protein aggregation diseases, and drug development for heart conditions, with methodologies spanning stem cell research and molecular pathology. Laboratory Affiliation: Works in the Experimental Pharmacology and Toxicology division at UKE, a hub for interdisciplinary biomedical research.

Sarah-Maria FendtView profile

Professor

• Cancer Metabolism
• Metastasis Biology
• Cellular Metabolism
• +4 more

Sarah-Maria Fendt is a Professor of Oncology at KU Leuven and Principal Investigator at the VIB Center for Cancer Biology. She serves as Head of the Laboratory of Cellular Metabolism and Metabolic Regulation and holds multiple leadership positions including membership in the Council of the Faculty of Medicine, the Council of the Department of Oncology, and the Research Council. Her primary research focuses on understanding the role of metabolism in driving cancer metastasis formation and defining metabolic regulation principles that enable cancer cell plasticity and heterogeneity. Dr. Fendt's lab applies cutting-edge single cell and spatial multi-omics technologies to study the interplay between cancer cells and their metabolic environment using pre-clinical mouse models and patient samples. Her research is funded by multiple national and international grants, including recent projects on metabolic vulnerabilities in acute myeloid leukemia, single-cell resolution in mass spectrometry imaging, and metabolic changes in metastatic liver. Dr. Fendt's publication record demonstrates significant contributions to cancer metabolism research, with recent articles in top journals including Nature, Nature Cancer, and Cell Reports. Her work reveals how metabolic adaptations drive metastasis through mechanisms including aspartate signaling, lipid metabolism, and metabolite-induced immune suppression. She has established herself as a leader in translating metabolic discoveries into potential therapeutic approaches. EMBO Gold Medal (2020) EMBO member (since 2022) Francqui-Collen prize (2023) 51st Léopold Griffuel award (2023) AACR award for Outstanding Achievement in Basic Cancer Research (2024) Dr. Fendt actively mentors the next generation of cancer researchers, with several students and postdocs presenting their work at international conferences. She recently completed a sabbatical at Peter MacCallum Cancer Centre in Australia working with Mark Dawson's laboratory. Her lab is a member of multiple research centers including the VIB-KU Leuven Center for Cancer Biology, LISCO (KU Leuven Institute for Single Cell Omics), and LKI (KU Leuven Cancer Institute).

• Phosphoproteomics
• Mass Spectrom
• Proteomics
• +5 more

Irina Kratchmarova is an Associate Professor at the Department of Biochemistry and Molecular Biology , University of Southern Denmark , specializing in Biomedical Mass Spectrometry and Systems Biology . Her research integrates quantitative proteomics and systems biology to investigate protein secretion in muscle and adipose tissues, post-translational modifications, and their roles in metabolic and inflammatory diseases. Phosphoproteomics and signaling networks Secretome analysis in muscle and fat Protein family interactions in cancer and reproduction Stable isotope labeling and mass spectrometry Key projects include collaborations with the Ministry of Education and Research (FSS) and foundations like Novo Nordisk and Lundbeck to study dysferlinopathies and muscle/adipose crosstalk. She has presented at institutions such as Freiburg Institute for Advanced Studies .

Wei-Ling TsouView profile

Researcher

• Neurodegeneration
• Parkinson's Disease
• Spinocerebellar Ataxias
• +3 more

Dr. Wei-Ling Tsou is a Researcher in the Department of Pharmacology at Wayne State University School of Medicine, specializing in age-related neurodegeneration and proteinopathies. Her work focuses on Spinocerebellar Ataxias (SCAs) and Parkinson’s Disease (PD), using Drosophila melanogaster and cell culture systems to study protein aggregation, oxidative stress, and therapeutic interventions. Ph.D. in Neuroscience, National Yang-Ming University, Taipei, Taiwan Post-doctoral fellow and Research Associate in Pharmacology, Wayne State University Research interests include: Protein aggregation mechanisms in PD and SCAs Polyamine metabolism in neurotoxicity and neuroprotection Ubiquitin-proteasome system and protein quality control Development of Drosophila models for neurodegenerative diseases Her publications span molecular neuroscience, genetics, and environmental toxicology, with recent work exploring: Therapeutic targeting of polyamine pathways in PD (2025) Mechanistic roles of ataxin-3 domains in SCA3 toxicity (2024-2023) Protein interactions in polyglutamine diseases (2022-2011) Dr. Tsou mentors graduate students and research assistants, emphasizing experimental design and troubleshooting. She has presented her findings at national and international conferences and contributes to scientific discourse through her research on neurodegenerative disease mechanisms.

• Cancer Research
• Molecular Oncology
• Prostate Cancer
• +3 more

Daniel O'Neill is a cancer research specialist at Newcastle University, focusing on molecular mechanisms in hormone-driven malignancies. His work centers on androgen receptor (AR) and estrogen receptor (ER) signaling pathways, with significant contributions to understanding prostate and breast cancer biology through collaborations with leading researchers including Professor Craig Robson and Dr. Luke Gaughan. His research interests span molecular oncology, epigenetic regulation, and therapeutic targeting of receptor signaling. Key areas include: AR/ER co-regulator identification (Usp12, KDM4B, SETD6) Post-translational modifications in cancer progression Apoptosis induction mechanisms in therapy-resistant tumors Epigenetic control of hormone-responsive gene networks These investigations aim to develop novel interventions for aggressive carcinomas. Analysis of his 2013-2016 publications reveals consistent focus on receptor stability mechanisms. His work demonstrates how deubiquitination (Usp12), demethylation (KDM4B), and methyltransferase activity (SETD6) govern receptor turnover and transcriptional output, establishing critical links between molecular modifications and cancer cell survival. No scientific awards were documented in the source material. O'Neill operates within Newcastle University's collaborative cancer research framework without indication of independent grant leadership or student supervision in the available records. His publications suggest integration into larger research teams investigating receptor signaling pathways, with emphasis on translational molecular oncology. While no dedicated laboratory is referenced, his work aligns with Newcastle's cancer biology initiatives, particularly in prostate cancer research where he contributed to key studies on AR regulation and therapeutic targeting mechanisms.

• Prostate Cancer
• Androgen Regulation
• Alternative Splicing
• +2 more

Karen Livermore is a researcher affiliated with Newcastle University, contributing to prostate cancer research through collaborative studies on androgen regulation and molecular mechanisms in cancer cells. Current research focuses on androgen-controlled gene expression and alternative splicing patterns Investigates glycosylation processes and their role in prostate cancer cell viability Studies cancer-associated proteins like TSPAN1 and their impact on cell migration Her work intersects with fields like molecular biology, oncology, and endocrinology, particularly examining: Androgen receptor signaling pathways Alternative mRNA isoform expression Prostate cancer progression mechanisms Collaborators include Dr Jennifer Munkley, Dr Emma Scott, and Professor Craig Robson. Recent publications (2015-2019) demonstrate sustained focus on androgen-regulated processes in prostate cancer.

Sana KoubaView profile

Assistant Professor

• Calcium Signaling
• Cancer Biology
• T Cell Function
• +2 more

Sana Kouba is an Assistant Professor at the University of Geneva , affiliated with the Intracellular Signals Research Group . Her work focuses on calcium signaling mechanisms in cancer progression and immune cell regulation. University: University of Geneva Role: Assistant Professor Email: Tamara.Bollmann@unige.ch Her research explores: Calcium signaling in cancer cell survival and metastasis Ion channel regulation via lipid modifications Role of calcium transporters in tumor microenvironment adaptation Interactions between calcium signaling and stemness in drug resistance Recent publications (2024-2025) highlight her work on genomic interrogation of calcium homeostasis, S-acylation of Ca2+ transport proteins, and functional roles of ion channels like TRPC1 and Orai3 in pancreatic, prostate, and breast cancers. Earlier works (2013-2020) span molecular spectroscopy and lipidic modulators of ion channels. Scientific Awards : No awards listed in provided data. Advising & Grants : No specific students, grants, or labs mentioned in scraped content.

Jim WilsonView profile

Professor

• Human Genetics
• Population Genetics
• Genetic Epidemiology
• +5 more

Jim Wilson is Professor of Human Genetics at the University of Edinburgh, jointly affiliated with the Usher Institute and the MRC Human Genetics Unit within the College of Medicine and Veterinary Medicine. He holds a personal Chair and serves in the Deanery of Molecular, Genetic and Population Health Sciences. His educational background includes a first-class BSc in Genetics from the University of Edinburgh (1997) and a DPhil in Human Population Genetics from the University of Oxford (2002), with research training under Nobel laureate Svante Pääbo and David Goldstein. Wilson's research spans population genetics, disease genetics, and genetic epidemiology, with particular focus on: Genetic architecture of complex traits influencing diseases like heart disease and diabetes Founder effects and pathogenic variants in Scottish island populations Homozygosity and recessive genetic variants through the ROHgen consortium Genetic history of the British Isles including Norse Viking ancestry He leads the Viking Genes studies in Orkney, Shetland and the Western Isles, which combine rich phenotyping, deep genotyping, and biobanking to identify disease associations. His extensive publication portfolio (over 300 peer-reviewed articles) consistently explores genetic epidemiology methods, population-specific variant discovery, and the interface between genetic history and modern disease risk. Recent work focuses on translating genetic discoveries into clinical applications through population screening programs. Wilson has received significant recognition including: Royal Society University Research Fellowship Thomson-Reuters Highly Cited Researcher (2014-2017) Fellow of the Royal Society of Edinburgh IFTA awards for science communication programs He leads multiple funded projects including: Return of Actionable Genetics Findings to Viking Genes Participants (Wellcome Trust) Landscape of HFE gene variation across British Isles (Haemochromatosis UK) FAIR informatics tools development (Health Data Research UK) Sleep/circadian rhythm effects on brain health (multiple funders) Wilson directs the Viking Genes research program and leads an international consortium (ROHgen) involving >100 cohort studies and >1.4 million participants. His group focuses on translating population genetics findings into clinical applications, particularly regarding founder variants in Scottish populations.