جست‌وجوی استاد و پژوهشگر

Rajendra Bahadur Shahiمشاهده پروفایل

پژوهشگر

• Cancer Genetics
• Breast Cancer Research
• Lung Cancer
• +۴ مورد دیگر

Rajendra Bahadur Shahi PhD is a researcher at the Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel (VUB), located at Pleinlaan 2, 1050 Brussel, Belgium. With an active research career spanning from 2012 to the present, he has established himself as a significant contributor to cancer genetics research with 11 research outputs documented in institutional records and an h-index reflecting substantial scholarly impact. Dr. Shahi's research primarily focuses on cancer genetics, particularly in the areas of breast and lung cancer predisposition. His work centers on identifying genetic variants that predispose individuals to cancer, with special attention to BRCA1/2-negative familial cases. Using advanced genomic techniques like whole-exome sequencing and next-generation sequencing (NGS), he investigates cancer-associated genes and their mutations to better understand hereditary cancer syndromes and develop improved diagnostic approaches. Analysis of Dr. Shahi's publication record reveals a clear progression from methodological development in NGS approaches toward increasingly sophisticated applications in clinical oncology. His research has evolved from foundational work on sequencing technologies to direct clinical applications in cancer predisposition and targeted therapies, particularly in breast and lung cancer. The integration of genomic data with clinical phenotypes represents a consistent theme throughout his scholarly output. European Association for Cancer Research (EACR) travel fellowship (2012) Organization of the European Cancer Institute (OECI) award (2013) Organization of the European Cancer Institute's (OECI) Award (2011) PhD Scholarship (2011) Prijs Kankeronderzoek (2016) Dr. Shahi has been actively involved in presenting his research at numerous international conferences and workshops, demonstrating his commitment to advancing knowledge in cancer genomics. His scholarly work has garnered attention across multiple platforms, with significant readership on Mendeley and coverage in news outlets, indicating the relevance and impact of his research. He has also contributed to datasets that support reproducible research in cancer genetics. Through his presentations and publications, Dr. Shahi has established himself as a contributor to the cancer research community, particularly in the application of genomic technologies to understand hereditary cancer predisposition. His work bridges basic genomic research with clinical applications, focusing on translating genetic findings into improved cancer risk assessment and potential therapeutic strategies.

Katherine A. Hoadleyمشاهده پروفایل

دانشیار

• Cancer Genomics
• Breast Cancer Research
• Gene Expression Analysis
• +۳ مورد دیگر

Katherine A. Hoadley, PhD, is an Associate Professor in the Department of Genetics at UNC School of Medicine and a member of the UNC Lineberger Comprehensive Cancer Center. Her lab specializes in cancer biology through gene expression analyses and integrative genomic approaches , with a focus on breast cancer and pan-cancer projects. Key Affiliations : UNC Lineberger Comprehensive Cancer Center Computational Medicine Program Research Themes : Multi-omics cancer characterization Immune landscape mapping Proteogenomic therapeutic targeting Clinical trial genomic analysis Scientific Recognition : Clarivate Analytics Highly Cited Researcher (2018–2024) Breast Cancer Research Foundation Award (2020) Clinical Research Forum Awards (2015) Her work contributes to precision oncology through large-scale initiatives like The Cancer Genome Atlas (TCGA) and the Genomic Data Analysis Network (GDAN) , with applications in RNA sequencing analysis and clinical trial optimization .

Leslie G. Bieseckerمشاهده پروفایل

استاد

• Precision Genomics
• Rare Genetic Disorders
• Overgrowth Syndromes
• +۳ مورد دیگر

Dr. Leslie G. Biesecker serves as Director & NIH Distinguished Investigator leading the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. His work bridges clinical practice and genomic research with focus on elucidating genetic mechanisms of rare developmental disorders. Educational background includes: B.S. from University of California, Riverside M.D. from University of Illinois College of Medicine Pediatrics training at University of Wisconsin Clinical and molecular genetics training at University of Michigan His research program centers on precision genomics with dual foci: (1) rare disorders of development and overgrowth including Proteus syndrome, PIK3CA-related overgrowth, and Pallister-Hall syndrome; and (2) hypothesis-generating clinical genomics through the ClinSeq ® program. The laboratory employs integrated clinical-molecular approaches, massively parallel sequencing, and animal models to investigate genotype-phenotype correlations while developing therapeutic strategies targeting the AKT/PIK3CA pathway. Recent work expands into pharmacogenetics and cancer susceptibility gene evaluation. Key publication trends reveal consistent leadership in rare disease gene discovery (2000-2012), methodological innovation in genomic analysis (2009-2013), and translational implementation of genomic medicine (2013-2016). Research spans molecular genetics, clinical diagnostics, and therapeutic development with strong emphasis on somatic mosaicism and pathway-targeted treatments. Major recognitions include: Election to National Academy of Medicine Presidency of American Society of Human Genetics (2019) NIH Distinguished Investigator appointment Dr. Biesecker co-directs a CLIA-certified molecular diagnostic laboratory and serves on editorial boards for four biomedical journals. His advisory roles include Illumina Corporation consultation and World Trade Center victim identification efforts. The Precision Genomics Section maintains active recruitment for clinical protocols studying rare disorders through the NIH Clinical Center, with recent expansion into therapeutic interventions for overgrowth disorders. Current lab structure includes staff scientists (Jennifer Johnston), genetic counselors (Julie Sapp), research scientists (Marjorie Lindhurst), and postdoctoral fellows working on genomic analysis and clinical protocols.

Jun J. Yangمشاهده پروفایل

استاد

• Pharmacogenomics
• Childhood Cancer
• Leukemia Treatment
• +۴ مورد دیگر

Jun J. Yang, PhD, is a Professor and Vice-Chair in the Department of Pharmacy and Pharmaceutical Sciences at St. Jude Children’s Research Hospital. He holds an Endowed Chair in Pharmacogenomics and is affiliated with the Comprehensive Cancer Center and St. Jude Graduate School of Biomedical Sciences. His research focuses on understanding the genetic basis of inter-patient variability in anticancer drug responses, particularly in pediatric leukemia. Key areas include pharmacogenomics of anti-leukemia drug toxicities, genomics of drug sensitivity/resistance, and leveraging genetic insights to develop precision therapies. Dr. Yang earned his PhD from Purdue University and has been continuously funded by the NIH since 2011. He leads the Yang Lab, which employs genomic and systems pharmacology approaches to decode leukemia heterogeneity. Notable achievements include identifying genetic polymorphisms in NUDT15 that predict thiopurine toxicity, leading to FDA label changes, and discovering biomarkers for drug response in T-cell ALL. He has received prestigious awards, including the 2024 Mentor of the Year from St. Jude and the 2023 Waun Ki Hong Award. His work emphasizes global collaborations, particularly in studying diverse pediatric leukemia cohorts. Current projects include developing biomarker-informed clinical trials, understanding chemotherapy-induced liver toxicity mechanisms, and identifying genetic risk factors for leukemia susceptibility. Education: PhD, Purdue University (2006) Affiliations: Hematological Malignancies Program, St. Jude Postdoctoral Leadership Council Grants: NIH, V Foundation

Julia Hauerمشاهده پروفایل

استاد

• Pediatric Oncology
• Genetic Predisposition in Childhood Cancer
• Environmental Influences on Leukemia
• +۳ مورد دیگر

Prof. Dr. Julia Hauer is a Professor of Pediatric and Adolescent Medicine at the Technical University of Munich (TUM), leading the Center for Pediatric and Adolescent Medicine at the München Klinik and Klinikum rechts der Isar. She holds a dual affiliation with the TUM School of Medicine and Health. Her career includes professorships at TU Dresden and Heinrich Heine University Düsseldorf, where she specialized in pediatric hematology/oncology and completed habilitation. She completed her medical studies at Ludwig Maximilian University of Munich, with postdoctoral research at Hôpital Necker in Paris. Her research focuses on genetic predisposition to childhood cancers (especially acute leukemias), environmental influences, and immune modulation for cancer prevention. She investigates new therapeutic strategies and translates scientific findings into clinical practice. Notable awards include the ERC Starting Grant 'PreventALL!' and the German Cancer Aid Excellence Program. Education: MD from LMU Munich, PhD (summa cum laude) in Immunology, Habilitation in Düsseldorf Research Themes: Leukemia genetics, gene therapy, environmental triggers, pediatric oncology Awards: ERC Funding, Leopoldina Scholarship, German Cancer Aid Recognition Prof. Hauer advocates for close collaboration between clinical care and research to rapidly implement new therapies for children. Her work bridges basic science and clinical practice in pediatric oncology and hematology.

Naomi Winickمشاهده پروفایل

استاد

• Pediatric Oncology
• Hematology
• Leukemia Therapy
• +۵ مورد دیگر

Dr. Naomi Winick is a Professor in the Department of Pediatrics at UT Southwestern Medical Center, specializing in childhood acute lymphoblastic leukemia and neurotoxicity from cancer therapy. She earned her MD from Northwestern University, completed pediatrics residency at Columbia University, and advanced training in pediatric hematology/oncology at Memorial Sloan Kettering and the University of Texas Health Science Center, where she also earned a Master’s in Public Health. Board certified in both general pediatrics and pediatric hematology-oncology, she has been at UT Southwestern since 1985. Her research focuses on leukemia treatment efficacy, genetic factors influencing leukemia susceptibility, and mitigating therapy-related neurotoxicity. She has authored over 200 peer-reviewed articles, contributed to books like Cancer in Children , and serves on key committees including the Children’s Oncology Group Institutional Performance Review Committee and National Cancer Institute’s Pediatric Leukemia and Lymphoma Steering Committee. In 2020, she received the President’s Award for Diversity and Humanism in Clinical Medicine at UT Southwestern. Dr. Winick actively participates in clinical trials through the Children’s Oncology Group, focusing on improving treatment protocols for high-risk leukemias and minimizing side effects. Her work spans genetics, clinical pharmacology, and quality-of-life outcomes in pediatric cancer patients.

Paul W Burridgeمشاهده پروفایل

دانشیار

• Pharmacogenomics
• Cardio-Oncology
• Induced Pluripotent Stem Cell Modeling
• +۵ مورد دیگر

Paul W Burridge, PhD is an Associate Professor in the Department of Pharmacology at Northwestern University's Feinberg School of Medicine and a founding faculty member of the Center for Pharmacogenomics. His laboratory specializes in human induced pluripotent stem cell (hiPSC) modeling for pharmacogenomics and cardio-oncology research. Dr. Burridge's research focuses on understanding how genomic variation influences drug efficacy and toxicity, particularly in cancer therapy-induced cardiovascular complications. His lab pioneered several key methodologies including the first directed cardiac differentiation protocol, non-integrating blood-to-iPSC reprogramming, and chemically defined differentiation protocols. Current projects span cardio-oncology, arrhythmia mechanisms, regenerative medicine, hiPSC models of breast cancer, and cultivated meat applications. Analysis of his 15 most recent publications reveals a strong emphasis on pharmacogenomics of anthracycline cardiotoxicity, with significant focus on genomic risk prediction in childhood cancer survivors, molecular mechanisms of cardiotoxicity, and development of cardioprotective strategies. His work increasingly integrates large-scale genomic analysis with hiPSC modeling to establish causal relationships between genetic variants and clinical outcomes. Fellow of American Heart Association (2016) Recipient of NCI R01 grant for Nilotinib Induced Artery Disease research NIH NHLBI Pathway to Independence Award recipient Editorial Board Member, Journal of Molecular and Cellular Cardiology (2020-present) Associate Editor, JACC CardioOncology (2018-present) Dr. Burridge advises multiple postdoctoral fellows including Ning Ge (cardiac arrhythmia modeling), Praeploy Pongpamorn (chemically defined differentiation), Nnamdi Uche (population-specific doxorubicin susceptibility), and George Gibbons. His lab has secured substantial grant funding for projects including large-scale hiPSC production, cardiotoxicity screening platforms, and novel drug discovery initiatives. The Burridge lab maintains extensive resources including high-throughput screening systems, CRISPR editing platforms, and bioreactor-based differentiation systems, all developed with a focus on eliminating animal-derived products from research.

• Genetics
• Cancer Predisposition
• Overgrowth Disorders
• +۷ مورد دیگر

Julian Antonio Martinez-Agosto is an Associate Professor at the UCLA School of Medicine with appointments in the Department of Human Genetics, Pediatrics, and Psychiatry and Biobehavioral Sciences. Board-certified in Medical Genetics, he has served on the UCLA faculty since 2007 after completing his MD/PhD at Yale University and pediatric training at Mattel Children's Hospital UCLA. His research focuses on novel growth regulatory pathways in progenitor and stem cell maintenance, particularly studying human growth disorders with cancer predisposition. Yale University: MD/PhD in Medicine/Neuroscience (2000) UCLA: Pediatric Residency and Medical Genetics Training Postdoctoral Fellow: Laboratory of Utpal Banerjee at UCLA Dr. Martinez-Agosto's research spans genetics, developmental biology, and neurogenetics with specific emphasis on overgrowth disorders, cancer predisposition syndromes, and autism spectrum disorders. His laboratory investigates molecular pathways including PTEN, mTOR, and other growth regulatory mechanisms using both human clinical studies and Drosophila models. His clinical practice focuses on genetic syndromes leading to overgrowth, vascular malformations, and cancer predisposition. His recent publications reveal strong trends in autism genomics, PTEN-related disorders, neurodevelopmental conditions, and molecular mechanisms of growth regulation. The research demonstrates interdisciplinary collaboration across genetics, neurology, and pediatrics with emphasis on translational applications. Cell Press 2021 Faces of Cell Pediatric Department Outstanding Research Award David W. Smith Pediatric Trainee Research Award Dr. Martinez-Agosto serves as Principal or Co-Principal Investigator on multiple NIH-funded research projects including studies on PTEN-associated autism, undiagnosed disorders, and Drosophila hematopoietic stem cell niches. His laboratory has trained numerous researchers in the field of medical genetics and developmental biology. His research is conducted through the Martinez Lab, which maintains active collaborations with multiple research groups at UCLA and other institutions, focusing on translational approaches to understanding genetic growth disorders.

• Medical Genetics
• Cytogenetics
• Oncology
• +۴ مورد دیگر

Susan B. Olson is a Professor in the Department of Medical Genetics at Oregon Health & Science University's School of Medicine. With over three decades of experience since earning her Ph.D. in Medical Genetics in 1987, she has established herself as a leading researcher in cytogenetics and molecular genetics, particularly focusing on Fanconi anemia and hematologic malignancies. Her work bridges basic science with clinical applications, contributing significantly to our understanding of genetic disorders and cancer mechanisms. Dr. Olson's research interests center on the molecular mechanisms of Fanconi anemia, acute myeloid leukemia, and other genetic disorders. Her laboratory investigates DNA repair pathways, particularly the Fanconi anemia pathway, and how defects in these processes lead to bone marrow failure and cancer predisposition. She has made significant contributions to understanding NUP98 rearrangements in leukemia, RUNX1 mutations, and the role of FANCD2 in DNA replication through fragile sites. Her work often combines cytogenetic analysis with molecular techniques to uncover novel mechanisms underlying genetic diseases. Analysis of Dr. Olson's recent publications (2016-2024) reveals a consistent focus on genetic mechanisms in cancer and inherited disorders. Her research spans from basic molecular studies of DNA repair mechanisms to clinical investigations of leukemia and lymphoma. A significant portion of her work centers on Fanconi anemia pathophysiology, with applications to understanding cancer development. She frequently employs advanced techniques including single-cell and spatial transcriptomics, cytogenetic analysis, and molecular diagnostics to address fundamental questions in medical genetics. Throughout her career, Dr. Olson has maintained productive collaborations with clinicians and researchers across multiple institutions, particularly with Stephen R. Moore at Oregon Health & Science University. Her work has been supported by various research grants focused on understanding the molecular basis of genetic disorders and developing potential therapeutic approaches, particularly for Fanconi anemia and acute myeloid leukemia.

• Genomic Biomarkers
• Thoracic Oncology
• Tumor Immunology
• +۳ مورد دیگر

Amin Nassar, M.D., is a Clinical Fellow in Medical Oncology and Hematology at Yale School of Medicine. He holds a medical degree from the American University of Beirut and completed residency at Brigham and Women’s Hospital. His postdoctoral training under Professors David Kwiatkowski, Toni Choueiri, and Matthew Freedman at Harvard Medical School focused on genomic biomarkers across ancestral populations with cancer. Currently pursuing a PhD in tumor immunology at the Flavell lab, he is dedicated to becoming a physician-scientist specializing in thoracic oncology. His research explores genetic and epigenetic factors influencing cancer outcomes, including tumor mutational burden (TMB) recalibration across ethnicities, KRAS mutations, and immune checkpoint inhibitor efficacy in diverse populations. He has authored over 50 peer-reviewed articles in high-impact journals like Nature Communications , Cancer Cell , and New England Journal of Medicine . Nassar serves on editorial boards for Frontiers in Oncology , Molecular Biology Reports , and Translational Oncology , and has received awards including the ASH Achievement Award (2022) and Alpha Omega Alpha (2016). His work bridges clinical practice and research, emphasizing health equity and precision medicine.

• Breast Cancer
• Medical Oncology
• Genomics
• +۳ مورد دیگر

Dr. Lajos Pusztai is a Professor of Medicine at Yale University and Scientific Co-Director of the Breast Center at the Yale Cancer Center. He holds leadership roles including Co-Director of the Genetics, Genomics, and Epigenetics Program and chairs the Breast Cancer Research Committee of SWOG. His research focuses on breast cancer subtypes, genomic profiling, and clinical trials for targeted therapies. He has authored over 250 publications, including work in high-impact journals like NEJM and Lancet Oncology. Dr. Pusztai received his MD from Semmelweis University and D.Phil. from Oxford University. Education: Medical Degree: Semmelweis University School of Medicine (1987) D.Phil.: University of Oxford (1993) Residency: University of Rochester St. Mary's Hospital (1996) Fellowship: University of Texas MD Anderson Cancer Center (1999) Research Interests: His work established key distinctions between estrogen receptor-positive and-negative breast cancers, pioneered gene expression profiling for treatment prediction, and developed tools like Residual Cancer Burden (RCB) scoring. He leads clinical trials for immunotherapies and novel drug combinations, emphasizing personalized cancer care. Key Contributions: Clarified clinical value of neoadjuvant chemotherapy in breast cancer subtypes Developed RCB metric for post-therapy assessment Advanced biomarker-driven therapy through genomic studies Awards: Clinical Science Research Prize (2022) Top 1% Highly Cited Investigator (2015) Advising & Grants: Leads multiple clinical trials (e.g., I-SPY2, NA-PHER2) and collaborates with institutions globally. His team includes prominent researchers like David Rimm and Kim Blenman. Grants focus on translational research and clinical trial innovation. Labs & Teams: Pusztai Lab Subset Medical Oncology Group at Yale Cancer Center, focusing on breast cancer genomics and clinical translation.

Eliezer M. Van Allenمشاهده پروفایل

دانشیار

• Computational Oncology
• Precision Cancer Medicine
• Genomics
• +۷ مورد دیگر

Dr. Eliezer M. Van Allen is an Associate Professor of Medicine at Harvard Medical School and Chief of the Division of Population Sciences at the Dana-Farber Cancer Institute. He is also an Institute Member at the Broad Institute of MIT and Harvard and a Member Researcher at The Parker Institute for Cancer Immunotherapy. His work bridges clinical oncology and computational biology to advance precision cancer medicine. Dr. Van Allen’s research focuses on computational oncology , single-cell transcriptomics , cancer genomics , and translational research , particularly in prostate, pancreatic, melanoma, and kidney cancers. He pioneered the field of clinical computational oncology, developing AI-driven tools to interpret cancer genomes and uncover resistance mechanisms to therapy. His lab actively explores tumor evolution, immunogenomics, and the role of inherited and environmental factors in cancer progression. The recent publications from his lab reflect a strong trend in applying artificial intelligence , single-cell and spatial multiomics , and deep learning to dissect tumor-immune interactions, identify biomarkers, and improve clinical decision-making in oncology. His work spans from algorithm development to real-world clinical implementation. Featured in Newsweek on 6 Lessons for Harnessing Artificial Intelligence Wall Street Journal feature on the Metastatic Prostate Cancer Project New York Times feature highlighting his work on cancer immunotherapy and genomics Dr. Van Allen mentors a large team of students, postdoctoral fellows, and researchers, with multiple successful PhD and Master’s thesis defenses. His lab is actively involved in patient-partnered research through initiatives like mpcproject.org. He leads a dynamic research group focused on creating the next generation of computational oncologists and advancing the clinical interpretation of cancer genomes. His lab, the Van Allen Lab, is dedicated to driving precision cancer medicine through innovative computational approaches. The team includes computational biologists, postdoctoral fellows, and clinical researchers working at the intersection of AI and oncology. The lab frequently welcomes new members and emphasizes collaborative, interdisciplinary science.

Joseph R. Testaمشاهده پروفایل

استاد

• Molecular Biology of Mesothelioma
• Cancer Genetics
• Oncogenesis
• +۱۰ مورد دیگر

Joseph R. Testa is a Professor and Senior Member at Fox Chase Cancer Center, where he holds the Carol and Kenneth E. Weg Chair in Human Genetics. He serves as Chief of Genomic Medicine and Director of the Clinical Cytogenomics Laboratory within the Cancer Prevention and Control program. His research is centered on the molecular genetics of malignant mesothelioma and the oncogenic role of the AKT pathway. University: Fox Chase Cancer Center School: Cancer Prevention and Control Department: Genomic Medicine Academic Rank: Professor Dr. Testa’s research focuses on hereditary and somatic mutations in cancer, particularly in mesothelioma. He discovered germline mutations in the BAP1 gene, leading to the identification of the BAP1 tumor predisposition syndrome. His lab uses genetically engineered mouse models to study gene-environment interactions, tumor development, and preclinical drug testing. Key interests include AKT signaling, NF2 inactivation, and inflammation-driven oncogenesis. His work has revealed mechanisms of chemoresistance and potential therapeutic targets such as FAK and RIPK3. His recent publications (2020–2025) reflect a strong focus on molecular mechanisms in mesothelioma, T-cell lymphoma, and cancer immunology. Trends include the use of transgenic models, epigenetic regulation, and pathway crosstalk (e.g., Wnt, cholesterol synthesis). He actively explores immunogenicity, targeted therapy, and synthetic lethality in genetically defined cancers. Scientific awards include: AACR Most-Cited Article (2018) Pioneer Research Award, MARF (2013) Wagner Medal, IMIG (2012) Elected Fellow, AAAS (2012) Landon-AACR Innovator Award (2008) Irving Selikoff Award (1999) Dr. Testa has mentored numerous researchers and leads a multidisciplinary lab team. He has received continuous grant support for studies on mesothelioma genetics and signaling. His lab collaborates internationally, particularly in BAP1 syndrome research. He is an editorial board member for multiple journals and has served on the NCI Board of Scientific Counselors. His work bridges basic discovery and clinical translation, influencing genetic testing and therapeutic strategies. The Testa Lab includes key personnel such as Yuwaraj Kadariya, Eleonora Sementino, Ujjawal Shrestha, and Yinfei Tan, focusing on mouse models, cytogenetics, and molecular mechanisms of tumorigenesis.

Eve Romanمشاهده پروفایل

استاد

• Cancer Epidemiology
• Haematological Malignancies
• Childhood Cancer
• +۳ مورد دیگر

Eve Roman is a Professor in Epidemiology and Cancer Statistics at the University of York's Department of Health Sciences. She co-founded the Haematological Malignancy Research Network (HMRN) in 2004, which utilizes NHS infrastructure to track 38,000 blood cancer patients for clinical and research purposes. Her work focuses on cancer epidemiology with a specific interest in haematological malignancies and childhood cancer using population-based data. Education : BSc in Applied Biology, Brunel University PhD in Epidemiology, London School of Hygiene & Tropical Medicine Her research explores epidemiological study design and routinely collected health data to analyze risk factors like maternal health and adverse reproductive outcomes. She has contributed to major projects such as the UK Childhood Cancer Study (UKCCS) and European Myelodysplastic Syndromes Registry (EUMDS) , emphasizing real-world data for informed clinical decisions. Recent publications highlight her work on chronic blood cancer patient experiences (2024), maternal pregnancy exposures and childhood cancer (2024), and genetic subtypes in lymphoma (2022). These studies demonstrate her expertise in qualitative research methods and genetic epidemiology . Scientific awards include: Editor-in-Chief of Cancer Epidemiology (Elsevier) Honorary Visiting Professor at the London School of Hygiene and Tropical Medicine Member of the Childhood Leukaemia International Consortium (CLIC) Contributor to the International Lymphoma Epidemiology Consortium (InterLymph) She supervises PhD and Master’s students in haematological malignancy epidemiology and teaches undergraduate modules like Understanding Health and Disease . Her external roles involve advisory positions on the Yorkshire and Humber Haematology Cancer Network and the UKCCS Research Committee .

Eamonn Maherمشاهده پروفایل

استاد

• Genetics
• Oncology
• Neoplasm
• +۷ مورد دیگر

Professor Eamonn Maher is the Dean of Aston Medical School at Aston University, within the College of Health and Life Sciences. His primary affiliation is with the School of Life & Health Sciences, where he leads research in genetic oncology and rare diseases. His work focuses on understanding the genetic basis of neoplasms, particularly in syndromes like von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, and hereditary renal cell carcinoma. He has published extensively on topics including genotype-specific cancer risk profiling, molecular diagnostics, and clinical guideline development. Research Interests: Professor Maher's expertise spans cancer genetics, inherited predispositions to tumors, and the molecular mechanisms of genetic disorders. Key areas include: Neoplastic risk profiling in hereditary syndromes Genomic analysis of renal and endocrine tumors Clinical management of phaeochromocytoma/paraganglioma Imprinting disorders and epigenetic mechanisms Public health implications of rare kidney diseases Recent Work Trends: His 2024–2025 publications emphasize: Advances in whole-genome sequencing for rare tumor diagnosis Systematic reviews of multiple primary renal tumors Guideline development for pediatric phaeochromocytoma/paraganglioma Genomic epidemiology of Birt-Hogg-Dubé syndrome Collaborations: His international collaborations include studies on SDHx-deficient cancers, multi-locus imprinting disturbances, and the UK National Registry of Rare Kidney Diseases (RaDaR). He also contributes to initiatives like the ClinGen VHL Variant Curation Expert Panel and ERN GENTURIS. Grants & Labs: While specific grants are not listed, his leadership in RaDaR and involvement in international registries indicate significant grant-funded research. His lab focuses on translational research bridging genetic discovery and clinical practice.