جست‌وجوی استاد و پژوهشگر

Lehtimäki Terhoمشاهده پروفایل

استاد

• Atherosclerosis biomarkers
• Clinical Chemistry
• Genetics
• +۷ مورد دیگر

Terho Lehtimäki is a Professor and Head of the Department of Clinical Chemistry at Tampere University's Faculty of Medicine and Health Technology. He also serves as Chief Physician at Fimlab Laboratories, a major clinical laboratory in Finland. His academic roles include being a docent in medical biochemistry and clinical chemistry, and he holds an eMBA degree. His research focuses on cardiovascular disease biomarkers, atherosclerosis, omics technologies, and genetic/epigenetic factors influencing complex traits. He leads major studies like the Tampere Vascular Study and contributes to over 35 international consortia. With 1200+ peer-reviewed publications and an H-index of 147, his work has driven discoveries in over 5000 genetic variants. Notable recognitions include membership in Academia Europaea and the University of Tampere Science Prize. Education & Career MD/PhD (1992) Docent in Medical Biochemistry (1996, University of Tampere) Docent in Clinical Chemistry (2003, University of Eastern Finland) eMBA (2013) Research Interests Cardiovascular biomarkers for risk prediction Omics-based systems biology approaches Functional genetics of complex traits Epigenetic inheritance mechanisms Multimodal cohort studies (e.g., Young Finns Study) Publications & Impact His work spans Nature, Science, and NEJM, with key contributions to understanding atherosclerosis biology, genetic risk factors, and clinical translation of omics data. Recent trends emphasize multi-omics integration and precision medicine applications. Awards & Leadership Over €15M in grant funding 3 spin-off companies Scientific leadership roles in >35 international initiatives Reviewer for 50+ journals and 15 funding agencies Teaching & Mentorship Trained over 60 PhD/MSc students, many now leading academic and clinical roles. Active in problem-based learning methodologies at Tampere University's Center of Excellence. Labs & Teams Directs the Clinical Chemistry Department's research group, collaborating closely with Fimlab Laboratories and international networks like the European Eye Consortium.

• Quantum Physics
• Biophysics
• Genetics
• +۳ مورد دیگر

Aurélien Perrin is a Research Fellow at the University of Paris 13, with research expertise spanning Quantum Physics and Medical Genetics . He is affiliated with the Bose-Einstein Condensate (BEC) group and the Sodium team , focusing on ultracold atomic systems, superfluidity, and neuromuscular disorders linked to TUBA4A and TTN gene mutations. Email : aurelien.perrin@univ-paris13.fr His research integrates experimental and computational approaches in Atomic and Molecular Physics , including Bose-Einstein condensates, quantum gas dynamics, and microwave spectroscopy. Concurrently, he investigates Genetics and Neuroscience topics such as titinopathies , myo-tubulinopathies , and the clinical implications of structural variants in neuromuscular genes. His recent publications highlight interdisciplinary work in quantum physics (e.g., vortex lattice thermal dynamics, atom chip manipulation) and genetic disorders (e.g., TTN mutations, clinical actionability of gene panels). This dual focus bridges fundamental physics and translational medicine. He is actively involved in collaborative projects like Solve-RD and Solve-NMD , utilizing next-generation sequencing and bioinformatics tools such as SpliceAI-visual to enhance variant interpretation for rare diseases.

Vessela N. Kristensenمشاهده پروفایل

استاد

• Genetics
• Genomics
• Breast Cancer Research
• +۳ مورد دیگر

Vessela N. Kristensen is a Professor at the Department of Medical Genetics , Institute of Clinical Medicine, Oslo University Hospital. Her research focuses on inherited genetic variation in breast and ovarian cancers, particularly how single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) influence tumor susceptibility, clinical presentation, treatment response, and gene regulation. Leadership: Head of the Kristensen Research Group at Oslo University Hospital Key collaborations: BRIDGES sequencing dataset, international consortia Research interests span: Cancer Genetics: Identifying germline variants affecting tumor biology and drug response Epigenetics: Mechanisms linking enhancer methylation to transcriptional networks Functional Genomics: Exploring gene-environment interactions in cancer risk Clinical Applications: Developing polygenic risk scores for personalized prevention Recent publications highlight her work on: BRCA1/2 variant classification using large-scale case-control data Tumor immunogenomics (CTLA4 expression as a prognostic biomarker) Computational models for predicting treatment outcomes in Luminal B cancer Epigenetic drivers of hormone-dependent breast cancer phenotypes Spatial transcriptomics applications in tumor heterogeneity analysis Key contributions include integrating multi-omics approaches to understand cancer progression and developing tools for molecular risk stratification in clinical settings.

Martin F. Arltمشاهده پروفایل

پژوهشگر

• Genetics
• Medical Genetics
• Cancer Biology
• +۳ مورد دیگر

Martin F. Arlt is an Associate Research Scientist in the Department of Human Genetics at the University of Michigan Medical School. His research focuses on genetic mechanisms underlying cancer, genomic stability, and evolutionary biology. He investigates X/Y chromosome dynamics, replication stress responses, and the role of intrinsically disordered proteins in genetic conflicts. Arlt's work utilizes yeast and mouse models to study evolutionary arms races and their implications in reproduction and disease. Recent studies include reenacting mouse X/Y chromosome genetic conflicts in yeast, revealing competitive protein interactions, and analyzing how transcription silencing at the FHIT gene suppresses replication stress-induced genomic instability. His research also explores the genomic structure of X chromosome genes and their evolutionary origins in mice. Publications span journals such as Proceedings of the National Academy of Sciences , Nucleic Acids Research , and Nature Reviews Cancer . His work contributes to understanding cancer mechanisms, genomic instability, and evolutionary adaptations in genetic systems.

• Bioinformatics
• Biomedical Data Science
• FAIR Data Management
• +۶ مورد دیگر

Krzysztof Poterlowicz is a Professor of Bioinformatics and Biomedical Data Science at the University of Bradford's Faculty of Life Sciences. He serves as Director of Research for Computational and Data Driven Science, leading efforts to advance FAIR data management and computational methodologies in biomedical research. As ELIXIR UK Training Co-ordinator, he coordinates nationwide training initiatives in data stewardship. His research focuses on integrating bioinformatics tools (e.g., Galaxy platform) with FAIR principles to improve reproducibility and accessibility in biomedical research. Key projects include the UKRI-funded ELIXIR-UK DaSH Fellowship program, which trains data stewards across institutions. Research interests span epigenetic analysis (DNA methylation profiling), skin biology (keratinocyte differentiation, aging mechanisms), and application of machine learning in precision medicine. He leads a team including bioinformaticians and data stewards, supervising postgraduate students in data management and computational biology. Publications emphasize tool development for genomic data analysis, FAIR practices implementation, and interdisciplinary collaborations in epigenomics. His work bridges computational methods with clinical applications, particularly in oncology and dermatology. Laboratory activities include developing bioinformatics workflows for epigenetic studies and managing the Computational and Data-Driven Science research group at Bradford. He actively contributes to ELIXIR's European infrastructure for life science data.

• Clinical Cytogenetics
• Hematological Malignancies
• Chromosomal Rearrangements
• +۳ مورد دیگر

Dr. Yi Ning is a Professor of Pathology and Director of the Cytogenetics Laboratory at the University of Maryland School of Medicine. She holds an MD from Shanghai First Medical College (1984), a PhD from Baylor College of Medicine (1991), and completed fellowship training at the National Human Genome Research Institute, NIH (1997). Board-certified in Clinical Cytogenetics, she previously held faculty positions at Johns Hopkins University (2013-2018) and Weill Cornell Medical College (2018-2019) before returning to the University of Maryland in 2019. Her research focuses on: Cytogenetic diagnosis of hematological malignancies and genetic disorders Characterization of cryptic chromosomal rearrangements Molecular mechanisms of leukemogenesis Diagnostic classification of myelodysplastic/myeloproliferative neoplasms She serves on the Cytogenetics Committee of the Eastern Cooperative Oncology Group (ECOG), participating in clinical trials for hematologic cancers. Analysis of her 15 most recent publications (2018-2025) reveals predominant focus on: Genomic alterations in acute leukemias and lymphomas Diagnostic classification systems for hematologic malignancies Novel fusion genes and chromosomal rearrangements Therapeutic responses in relapsed/refractory AML Molecular pathology of rare tumors including olfactory neuroblastoma Dr. Ning leads the Cytogenetics Laboratory at UMB, which specializes in clinical diagnostics of hematologic disorders and participates in multicenter oncology research trials through ECOG.

Jennifer Gulerمشاهده پروفایل

استادیار

• Malaria Drug Resistance
• Parasite Genomics
• Metabolic Adaptation
• +۲ مورد دیگر

Jennifer Guler is an Assistant Professor in the Department of Biology at the University of Virginia, where she leads the Guler Malaria Lab. Her research focuses on addressing the global challenge of antimalarial resistance in Plasmodium falciparum . The lab operates across three interconnected domains: investigating genomic mechanisms of drug resistance initiation, profiling metabolic adaptations in resistant parasites, and developing novel molecular surveillance tools for malaria-endemic regions. Her research interests center on: Molecular mechanisms driving copy number variations and genome amplification in parasites Metabolic reprogramming during antimalarial resistance development High-throughput diagnostics for tracking resistance-conferring mutations Field-deployable genotyping tools for global surveillance Parasite evolution under drug selection pressure Analysis of her 15 most recent publications reveals strong emphasis on: Advanced genomic technologies (long-read sequencing, single-cell analysis) Innovative molecular diagnostics (ddPCR, TaqMan arrays) Metabolic modeling and systems biology approaches Field applications in malaria-endemic regions (Thailand, Mozambique, South Africa) The Guler Malaria Lab maintains a strong commitment to diversity and inclusion, actively fostering opportunities for underrepresented groups in STEM and promoting collaborative research with endemic countries to address global health disparities.

Adrian Rangaمشاهده پروفایل

دانشیار

• Organoid Engineering
• Microfluidics
• Stem Cell Mechanics
• +۳ مورد دیگر

Adrian Ranga is an Associate Professor at the Department of Mechanical Engineering within KU Leuven's Faculty of Engineering Science . He leads research at the BioMechanics (BMe) section, with affiliations to multiple institutes including the KU Leuven Institute of Physics-based Modeling for In Silico Health , Brain Institute , and Institute for Single Cell Omics . His work focuses on organoid engineering , mechanical force manipulation , and vascularization technologies using microfluidic devices . Key Research Areas: Vascular and neural organoid development Microfluidic cell culture systems Mechanotransduction mechanisms Stem cell-based tissue engineering Recent Publications (2025–2024) demonstrate expertise in 3D bioprinting , force-mediated angiogenesis , and comparative neurodevelopment across species. His patent applications include discrete cell culture microenvironments and photopolymerized devices . Collaborative projects span the Interreg Biomat-on-Chip Consortium and FWO-funded initiatives .

Getiria Onsongoمشاهده پروفایل

دانشیار

• Bioinformatics
• Clinical Genomics
• Agroinformatics
• +۱ مورد دیگر

Getiria Onsongo is an Associate Professor in the Department of Mathematics, Statistics, and Computer Science at Macalester College. Previously, he worked as a Research Scientist at the Minnesota Supercomputing Institute and Masonic Cancer Center, and as a database consultant for GEMS. He earned his PhD from the University of Minnesota under Prof. John V. Carlis and Prof. Timothy J. Griffin. His research focuses on bioinformatics with dual emphases: clinical genomics for diagnosing rare genetic disorders through copy number variation detection in whole-exome/genome sequencing data, and agroinformatics for preventing food shortages in sub-Saharan Africa via integrative analysis of genotype, environmental, and management data. He develops scalable computational tools for genomic diagnostics and collaborates with the International AgroInformatics Alliance at the University of Minnesota. His publication record demonstrates consistent innovation in applying computer science to healthcare and agricultural challenges, including cloud-based clinical genomics pipelines and machine learning-driven CNV detection algorithms. Dr. Onsongo collaborates with the International AgroInformatics Alliance at the University of Minnesota's College of Food Agriculture and Natural Resource Science, and has partnered with clinical teams at the Minnesota Supercomputing Institute on genomic diagnostic software development.

James R Lupskiمشاهده پروفایل

استاد

• Molecular genetics of Charcot-Marie-Tooth disease and related inherited neuropathies
• Genomic disorders
• Copy number variation (CNV) and disease
• +۶ مورد دیگر

James R. Lupski, M.D., Ph.D., D.Sc. (hon), is a Professor at Baylor College of Medicine, holding appointments in the Department of Molecular and Human Genetics and Department of Pediatrics . He is also affiliated with the Program in Integrative and Molecular and Biomedical Sciences , Program in Translational Biology & Molecular Medicine , and the Dan L Duncan Comprehensive Cancer Center . Education : BA (New York University), MD (New York University School of Medicine), PhD (New York University), DSc (hon) (Watson School of Biological Sciences, Cold Spring Harbor Laboratory) Postdoctoral Training : New York University, Baylor College of Medicine Dr. Lupski's research focuses on the molecular genetics of Charcot-Marie-Tooth disease and related inherited neuropathies, genomic disorders , copy number variation (CNV) , and structural variant mutagenesis . He pioneered the Clan Genomics hypothesis , which posits that recent mutations in familial genomes significantly impact disease susceptibility and personalized medicine. His work explores mechanisms of human genomic rearrangements, rare variant analysis, and their implications for molecular diagnostics and therapeutics. His research has been pivotal in understanding nonrecurrent genomic rearrangements , Alu/Alu-mediated structural variation , and genotype-phenotype correlations in Mendelian and complex traits. The Clan Genomics framework has been globally validated through large-scale genomic studies. Scientific Awards : The Cullen Foundation Endowed Chair in Molecular Genetics Member, American Neurological Association Member, National Academy of Medicine Member, American Society for Clinical Investigation Fellow, American Association for the Advancement of Science Contact: jlupski@bcm.edu

Kerry Resslerمشاهده پروفایل

استاد

• Neuroscience
• Psychiatry
• Fear Research
• +۳ مورد دیگر

Kerry Ressler is a Professor of Psychiatry at Harvard Medical School and serves as Chief Scientific Officer at McLean Hospital. His research focuses on elucidating the neural and molecular mechanisms underlying fear-based psychiatric disorders, particularly post-traumatic stress disorder (PTSD), phobic disorders, and panic disorders. He leads the Ressler Lab, which integrates translational approaches spanning animal models of fear learning with human genetic and clinical studies to identify novel therapeutic targets. Dr. Ressler's research centers on molecular, genetic, epigenetic, and neural circuit mechanisms of fear memory formation and modulation. His lab employs mouse models of fear acquisition, consolidation, and extinction using optogenetics, DREADDs, cell-type-specific transcriptional profiling, and DNA methylation analyses to investigate amygdala-dependent circuits. Human studies focus on identifying genetic traits and neural processes contributing to fear-based disorders, with emphasis on biomarkers like PACAP, cortisol, and inflammatory markers. This work aims to translate mechanistic insights into targeted treatments for trauma-related illnesses. Analysis of Dr. Ressler's recent publications reveals dominant themes in PTSD neurobiology, including sex-specific responses to trauma, neural circuit dynamics using advanced neuroimaging (fMRI, DTI), and genetic/epigenetic mechanisms. His work frequently involves large-scale collaborations (ENIGMA-PGC, AURORA study) examining biomarkers, white matter integrity, and precision psychiatry frameworks. Key subfields include fear extinction mechanisms, childhood adversity impacts, and inflammatory pathways in trauma responses. Dr. Ressler directs the Ressler Lab at McLean Hospital's Oaks Building, utilizing a multidisciplinary approach that combines molecular genetics, viral-vector manipulations, and human clinical research. The lab is embedded within Harvard Medical School's neuroscience ecosystem and contributes to major initiatives including the ENIGMA-PGC PTSD consortium and AURORA observational cohort study, focusing on translating basic science discoveries into clinical applications for trauma survivors.

John Mackayمشاهده پروفایل

استاد

• Genetics of forest trees
• Molecular biology
• Adaptability of trees
• +۵ مورد دیگر

Professor John Mackay holds the Wood Professorship of Forest Science at the University of Oxford and serves as Associate Head of Department (Research) and Chief Examiner (FHS). His research focuses on the genetics and molecular biology underpinning tree adaptability, forest health, and conifer genome evolution. Key areas include insect resistance mechanisms, wood formation genetics, and genomic tools for tree breeding. Research Interests: Genetic basis of adaptation in forest trees Conifer genome evolution and structural variation Wood property genetics and genomic selection Pathogen interactions and fungal symbiosis Drought stress response mechanisms Recent work emphasizes genomic exploration of species like Thuja plicata and Picea glauca, with studies on SNP diversity patterns and defense-related genes. Collaborations include projects on Phytophthora ramorum epidemiology and the functional genomics of conifer immune receptors. Advising focuses on graduate students like Dr. Tin Hang (Henry) Hung (Croucher Fellow) and Ernest Ting Yu Wu (Leverhulme Trust scholar). His lab develops genomic tools for sustainable forestry practices and climate-resilient tree varieties. Contact: john.mackay@biology.ox.ac.uk

Jin Szatkiewiczمشاهده پروفایل

دانشیار

• Psychiatric Genetics
• Statistical Genetics
• Genomics
• +۳ مورد دیگر

Jin Szatkiewicz, MS, PhD is an Associate Professor in the Department of Genetics and Adjunct Assistant Professor in the Department of Psychiatry at the University of North Carolina at Chapel Hill. She holds dual appointments within the UNC School of Medicine and is affiliated with major research consortia including the Psychiatric Genomics Consortium and the Genetic Consortium of Anorexia Nervosa. Dr. Szatkiewicz completed her BS and MA in biochemistry and molecular biology, followed by a PhD in biostatistics and postdoctoral training in statistical genetics and psychiatric genomics. Her research focuses on statistical genetics and psychiatric genomics, particularly the role of structural variation in schizophrenia and eating disorders. She leads NIH-funded projects (K01, R21, R01) investigating copy number variation and developmental trajectories of mental health symptoms. Key achievements include identifying rare tandem repeats linked to schizophrenia and advancing methods for quantifying genetic hypotheses in psychiatric research. In 2024, she was awarded an NIMH R01 grant to study eating and internalizing disorder trajectories. Her work combines computational tools with large-scale genomic datasets, collaborating with institutions like the Hospital for Sick Children (Toronto) and the University of Wisconsin-Madison. Dr. Szatkiewicz has published extensively in journals like Molecular Psychiatry and maintains active grants totaling over $5M in funding.

• Genetic Epidemiology
• Bioinformatics
• Molecular Genetics
• +۳ مورد دیگر

Dr. Manuel Mattheisen is an Associate Professor at Dalhousie University, holding joint appointments in the Faculty of Medicine's Department of Community Health and Epidemiology and the Faculty of Computer Science. He is also an Adjunct Professor at LMU Munich and the Karolinska Institute. His research focuses on genetic epidemiology, bioinformatics, and translating genetic findings into clinical practice for global mental health. Key areas include identifying genetic risk factors for complex traits like OCD, schizophrenia, and bipolar disorder, and developing biostatistical tools. Dr. Mattheisen’s work emphasizes cross-disciplinary collaboration across phenomics, molecular genetics, and computational methods. His lab prioritizes four research pillars: large-scale genetic studies, predictive biomarkers for clinical outcomes, patient-centered implementation science, and methodological advancements in bioinformatics. Recent publications emphasize psychiatric genetics, including GWAS for OCD, schizophrenia risk in Asian populations, and polygenic scoring for treatment response. He collaborates globally, with projects in East/South Asia, Africa, and the Americas. While no awards are explicitly listed, his extensive publication record and international collaborations highlight his impactful contributions to psychiatric genetics and clinical translation.

• Genomics
• Structural Variants
• Genetic Architecture
• +۳ مورد دیگر

Mario Caceres Aguilar is an ICREA Researcher at the Institute of Biotechnology and Biomedicine (IBB) at Universitat Autònoma de Barcelona. He specializes in genomic research with a focus on structural variants, particularly inversions in human and Drosophila genomes. His work bridges functional genomics, evolutionary biology, and precision medicine. Principal Investigator of projects like ON THE ROLE OF HUMAN RECURRENT MUTATIONS (2020–2023) and IN2DIAG (2017–2018). Leading the Grup de Genòmica, Bioinformàtica i Biologia Evolutiva (GBBE) within IBB. Research interests include identifying functional impacts of genomic inversions, developing diagnostic tools for precision medicine, and analyzing structural variants across populations. Key contributions include haplotype mapping and high-throughput genotyping methods (e.g., GCAT|Panel). Collaborates internationally on projects like the macaque genome analysis and structural variant functional studies. His work spans disciplines from genetics to computational biology, with applications in disease genetics and evolutionary processes.