جست‌وجوی استاد و پژوهشگر

Grant Montgomeryمشاهده پروفایل

استاد

• Genetics
• Genomics
• Reproductive Disorders
• +۴ مورد دیگر

Professor Grant Montgomery is a leading academic at the University of Queensland (UQ), serving as Director of the UQ Genome Innovation Hub and Group Leader of the Genomics of Reproductive Disorders at the Institute for Molecular Bioscience (IMB). His primary focus is on understanding the genetic and epigenetic basis of reproductive disorders, particularly endometriosis, through large-scale genomic studies and functional analyses. His work integrates multi-omics data to identify disease mechanisms and develop translational solutions. Research Interests: Genetic and epigenetic regulation of endometrial function Systems genetics approaches to study complex diseases Functional validation of genomic risk variants Development of clinical tools like eQTL/mQTL browsers Multi-omics integration for disease biomarker discovery Recent Articles: Highlighting endometriosis genetics, comorbidity mechanisms, and novel diagnostic approaches. Key themes include genetic risk stratification, epigenetic dysregulation, and translational applications of genomic data. Collaborations: Active partnerships with institutions globally, including University of California, San Francisco, Oxford Endometriosis CaRe Centre, and Monash University. Major consortia include International Endometriosis Genetics Consortium and Reprogen Consortium. Advising & Training: Supervises PhD students focusing on endometrial cell biology, epigenetic regulation, and computational genomics. Provides training opportunities in functional genomics and systems biology. Labs/Teams: Leads a multidisciplinary team with expertise in molecular biology, bioinformatics, and clinical research. Maintains cell culture facilities and single-cell sequencing capabilities.

Chad A. Shawمشاهده پروفایل

استاد

• Statistics
• Genomics
• Systems Biology
• +۳ مورد دیگر

Chad A. Shaw is a Professor at Baylor College of Medicine and a Joint Professor of Statistics at Rice University. He serves as Director of the D2K Laboratory at Rice, and holds additional roles including Investigator at the Jan and Dan Duncan Neurological Research Institute and Faculty Member at the Baylor College of Medicine’s STaR Center and Quantitative & Computational Biosciences program. His expertise spans statistical genomics, bioinformatics, and molecular genetics. Education: BS in Mathematics (Duke University, 1995); PhD in Statistics (Rice University, 2001). Research Interests: Focuses on statistical methods for genomics, including next-generation sequencing analysis, structural variation studies, and clinical exome sequencing. Key contributions include probabilistic models for mutation transmission in human genetic diseases, copy-number variation analysis, and functionalization of genetic variants. His work bridges computational statistics with clinical applications, addressing challenges in rare disease diagnostics and Mendelian disorder modifiers. Publications: Over 200 peer-reviewed articles, including foundational studies on recurrence risk in genetic disorders and mechanisms of structural variation. Recent work emphasizes Bayesian modeling in sequencing assays, CNV-driven genetic diseases, and prenatal genomic analysis. Awards/Grants: No explicit awards mentioned, but his research has been cited ~17,000 times. Active in grant-funded projects across computational and clinical genomics. Advising: Trained 5 PhD students and advised over 10 others, with students contributing to areas like high-dimensional regression and software tools for variant prioritization. Labs/Teams: Leads the D2K Laboratory at Rice, fostering interdisciplinary research in data science and computational biology.

Nilufer Ertekin-Tanerمشاهده پروفایل

استاد

• Alzheimer's disease
• Neurodegenerative diseases
• Neurogenetics
• +۸ مورد دیگر

Nilufer Ertekin-Taner, M.D., Ph.D., is a Professor of Neurology and Neuroscience at Mayo Clinic in Jacksonville, Florida, within the College of Medicine. She leads the Genetics of Alzheimer's Disease and Endophenotypes Laboratory and is a practicing board-certified behavioral neurologist in the Memory Disorders Clinic. Her work bridges clinical neurology and advanced genetic research, focusing on uncovering the genetic architecture of Alzheimer’s disease and related dementias. Dr. Ertekin-Taner earned her M.D. from Hacettepe University Medical School in Turkey and her Ph.D. in Molecular Neuroscience from Mayo Graduate School. She completed neurology residency at Mayo Clinic in Rochester and a fellowship in behavioral neurology in Jacksonville. Her research interests center on the complex genetics of Alzheimer’s disease, utilizing endophenotypes such as amyloid β peptide levels, gene expression, and cognitive traits. She employs integrative approaches combining genomics, transcriptomics, and epigenetics to identify and characterize genetic risk factors, with a focus on late-onset AD, progressive supranuclear palsy, and underrepresented populations like African Americans. Her lab investigates functional consequences of genetic variants in genes such as CTNNA3 and LRRTM3 using molecular and animal models. The 15 most recent publications highlight a strong trend in multi-omics integration, including transcriptomic deconvolution, glial and vascular cell-specific signatures, epigenetic regulation, and systems-level analysis of AD pathways. Her work increasingly emphasizes resilience mechanisms, therapeutic target discovery, and health equity in neurodegenerative disease research. Investigator of the Year Award, Mayo Clinic, 2018 Alzheimer’s Association Zenith Fellows Award, 2022 Health Care Hero, Jacksonville Business Journal, 2008, 2018 Fellow of the American Academy of Neurology (FAAN), 2017 Roy E. and Merle Meyer Professor of Neuroscience, Mayo Clinic, 2025 Dr. Ertekin-Taner has been Principal Investigator on major NIA-funded projects, including the Accelerating Medicines Partnership Alzheimer's Disease (AMP-AD) and the Molecular Mechanisms of the Vascular Etiology of Alzheimer's Disease Consortium. She mentors students and early-career researchers, serves as Director of the KL2 Mentored Career Development Program, and chairs the Mayo Graduate School Thesis Advisory Committee. Her lab collaborates extensively with Mayo Clinic’s brain bank and multi-site research consortia to translate genetic findings into clinical insights. She leads the Genetics of Alzheimer's Disease and Endophenotypes Laboratory, which uses cutting-edge genomic and computational tools to dissect the molecular underpinnings of neurodegenerative diseases. The lab is deeply integrated into Mayo Clinic’s Alzheimer’s Disease Research Center and contributes to national and international research networks.

Sarah Rashidمشاهده پروفایل

مدرس پاره‌وقت

• Osteoclast Biology
• Bone Diseases
• Osteoporosis
• +۸ مورد دیگر

Sarah Rashid is a Ph.D. candidate and Part-Time Lecturer at the School of Biomedical Sciences, The University of Western Australia. Her research focuses on osteoclast biology and its role in bone diseases like osteoporosis, with a strong emphasis on identifying novel therapeutic targets through advanced bioinformatics and molecular techniques. Education: Biochemistry and Molecular Biology, MPhil (2014-2016) Biochemistry and Molecular Biology, MSc (2012-2014) Bone Research, Ph.D (2021-ongoing) Research Expertise: Sarah's work integrates in vitro human osteoclast assays, RNA sequencing, and bioinformatics to map osteoclast transcriptomes, identify differentially expressed genes, and analyze epigenetic mechanisms like DNA methylation during osteoclast differentiation. She also explores intersections between osteoclast biology and cancer via Siglec-15 pathways. Publications: Recent contributions include studies on osteoclast-targeted therapies for leukemia, RNA-seq analysis of osteoclastogenesis, and a review on Siglec-15's role in skeletal biology and cancer. Her work aligns with UN Sustainable Development Goal 3 (Good Health and Well-being) through advancements in bone disease treatment. Technical Skills: Specializes in cell culture, RNA sequencing, bioinformatics, gene ontology, and DNA methylation array analysis.

Minerva M. Carrasquilloمشاهده پروفایل

استادیار

• Alzheimer's Disease Genetics
• Genome-Wide Association Studies (GWAS)
• Neurodegenerative Diseases
• +۱۲ مورد دیگر

Minerva M. Carrasquillo, Ph.D., is an Assistant Professor in the Department of Neuroscience at Mayo Clinic in Jacksonville, Florida. Her research is centered on the genetic underpinnings of Alzheimer’s disease and other complex neurodegenerative disorders. She leads and co-leads multiple federally funded research projects focused on identifying genetic risk variants and understanding their functional consequences. Dr. Carrasquillo earned her Ph.D. in Human Genetics from Case Western Reserve University and completed her postdoctoral training at the Institute of Genetic Medicine, Johns Hopkins School of Medicine. Her research program integrates genome-wide association studies (GWAS), functional genomics, and multi-omics approaches to dissect the molecular mechanisms of Alzheimer’s disease, with a growing emphasis on diverse and multi-ethnic populations. Her primary research interests include Alzheimer’s disease genetics, genome-wide association studies (GWAS), functional genomics, biomarker discovery, and the role of genetic variation in gene expression and protein levels. She investigates how variants in genes like TREM2, APOE, IDE, and others influence disease risk, cognitive decline, and neuropathological features such as amyloid-beta and tau pathology. The 15 most recent articles highlight a strong trend toward integrative, multi-omics research in diverse cohorts. Her work increasingly focuses on the interplay between genetics, gene expression, proteomics, and neuroimaging, aiming to uncover druggable targets and early detection markers for Alzheimer’s disease. Recent publications emphasize peripheral and central biomarkers, functional connectivity, and health disparities in neurodegeneration. Dr. Carrasquillo has secured competitive funding from the National Institute on Aging and the Alzheimer’s Association. Her current and recent grants include: PI: AD Risk Prediction, Cognitive Decline & Gene Regulation at the TREM2 locus (Alzheimer’s Association) PI: Peripheral and Central Biomarkers of Alzheimer's Disease in Diverse Cohorts (NIA, 2022–2023 and 2024–2025) CoPI: Centrally-linked longitudinal peripheral biomarkers of AD in multi-ethnic populations (NIA) CoPI: Mayo Advancing Research Equity in ADRD Study in Jacksonville (MAREAS-Jax, NIA) She actively mentors research staff and collaborates with large international consortia. Her work is highly collaborative, involving teams from Mayo Clinic, other U.S. institutions, and global partners. She contributes to major Alzheimer’s disease research initiatives and leads efforts to include underrepresented populations in genetic studies, promoting equity in neuroscience research.

Fred Wrightمشاهده پروفایل

استاد

• Bioinformatics
• Statistical Genetics
• Likelihood-based Inference
• +۳ مورد دیگر

Fred Wright is the Goodnight Innovation Distinguished Professor and Director of the Bioinformatics Research Center at North Carolina State University's Department of Statistics. He holds a Ph.D. in Statistics from the University of Chicago (1994). His research focuses on bioinformatics, statistical genetics, and likelihood-based inference, with applications in toxicology, genomics, and computational biology. He leads efforts to integrate multi-omics data for environmental and health risk assessment, particularly in studying genetic modifiers of diseases like cystic fibrosis and evaluating chemical hazards using new approach methodologies (NAMs). His work bridges statistical theory and applied problems in precision medicine and regulatory science. He is affiliated with the NC State University campus in Raleigh, North Carolina. Key research areas include population-based toxicity screening, gene expression quantitative trait locus (eQTL) analysis, and the development of computational tools for big data integration (e.g., ToxPi software). His projects often involve collaborations with institutions like the Texas A&M Superfund Research Program and the Collaborative Cross mouse population studies. Recent work emphasizes leveraging human in vitro models and machine learning to advance regulatory toxicology and reduce reliance on animal testing. Dr. Wright's contributions span statistical methodology, environmental health, and genetic epidemiology. He has advised numerous graduate students and postdocs, though specific names are not listed in the provided texts. His grants and funding focus on advancing computational frameworks for chemical risk assessment and understanding genetic contributions to complex diseases.

• Statistical Genetics
• Single-Cell RNA Sequencing
• Genomics
• +۶ مورد دیگر

Brunilda Balliu is an Assistant Professor at the David Geffen School of Medicine at UCLA, holding dual appointments in Pathology and Laboratory Medicine and Computational Medicine . Her research focuses on genomic approaches to understanding complex traits, integrating single-cell RNA-Seq , electronic health records , and statistical genetics to uncover mechanisms of disease regulation. PhD in Statistical Genetics from Leiden University Postdoctoral work at Stanford University Dr. Balliu's work spans diverse areas including: Gene regulation and splicing dynamics Multi-ethnic disease mapping Wearable device data integration Single-cell multi-omic analysis Her publications highlight collaborations in: NIH R01HG006399 (2011–2025) on disease mapping NIH R01MH125252 (2021–2026) on psychiatric disorder risk loci NIH U01HG012079 (2021–2026) on gene regulatory networks Wellcome Leap (2021–2025) on anhedonia mechanisms Her lab develops computational frameworks for: Trans-eQTL mapping Ambient contamination correction Longitudinal omics analysis

Jerzy Kulskiمشاهده پروفایل

استاد مدعو

• Immunology
• Genetics
• Genomics
• +۳ مورد دیگر

Jerzy Kulski is an Adjunct Professor at the School of Biomedical Sciences, Microbiology and Immunology, University of Western Australia (UWA), and an Adjunct Visiting Professor at Tokai University. His research focuses on Major Histocompatibility Complex (MHC)/Human Leukocyte Antigen (HLA) genetics, immunogenetics, and their roles in disease mechanisms. Key areas include MHC class I/II structure, genetic associations with conditions like Parkinson’s disease, arthritis, and autoimmune disorders, leveraging next-generation sequencing and genomic analysis. Dr. Kulski has contributed to over 100 research outputs, including studies on transposable element regulation, swine leukocyte antigen (SLA) polymorphisms in microminipigs, and HLA-related disease susceptibility. He has led a NHMRC-funded project on genomic prospecting for disease genes. His work bridges molecular biology, population genetics, and clinical applications, with international collaborations through organizations like the International HLA & Immunogenetics Workshop. He serves on editorial boards for Cells and F1000Research , and his research supports UN Sustainable Development Goals related to health and innovation. His expertise spans MHC haplotype analysis, RNA splicing effects, and cross-species immunogenetic comparisons, contributing to both basic science and translational medicine.

Ritsert Jansenمشاهده پروفایل

استاد

• Genetics
• Genomics
• Quantitative Trait Locus (QTL) Analysis
• +۵ مورد دیگر

Prof. Ritsert Jansen is a Professor at the University of Groningen, specializing in genetics and genomics with a focus on quantitative trait locus (QTL) analysis, systems genetics, and computational methods for genetic data. His research spans plant genomics, epigenetics, and the application of statistical genetics to understand complex traits. Notable contributions include the development of tools like FitTetra for tetraploid genotyping and reGenotyper for sample quality control. He collaborates internationally and has contributed to over 140 peer-reviewed publications. His work addresses both fundamental biological questions and applied challenges in healthcare and agriculture. Research Interests: Quantitative genetics and genomics Epigenetic variation and its effects Development of bioinformatics tools for genetic analysis Systems approaches to study gene expression networks Recent articles highlight advancements in high myopia care and genotyping methods, reflecting his interdisciplinary approach. His datasets and software tools, including those archived on figshare, emphasize reproducibility and open science.

Thomas LaFramboiseمشاهده پروفایل

استاد

• Cancer Genomics
• Bioinformatics
• Computational Biology
• +۳ مورد دیگر

Dr. Thomas LaFramboise is a Professor in the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine . He serves as a member of the Cancer Genomics and Epigenomics Program within the Case Comprehensive Cancer Center. His research focuses on computational oncogenomics and bioinformatics methodology for identifying molecular variants in cancer. Key areas include: Development of R software packages for genomic data analysis Statistical modeling of SNP microarray data in tumors Investigation of germline-somatic interactions in myeloid malignancies Exploration of mitochondrial DNA dynamics in cancer progression Recent publication trends show interdisciplinary work spanning hematologic malignancies , solid tumors , and neurodegenerative disease models . His group integrates high-dimensional data mining with experimental validation in human cancer cells. Contact: thomas.laframboise@case.edu

Raquel Silvaمشاهده پروفایل

استادیار

• Molecular Biology
• Genetics
• Bioinformatics
• +۱۲ مورد دیگر

Raquel Silva is an Assistant Professor at the Faculty of Dental Medicine, Universidade Católica Portuguesa, and a Researcher at the Center for Interdisciplinary Research in Health (CIIS). She holds a PhD in Biology from the University of Aveiro and has held research positions at IPATIMUP and IEETA. Her academic and research career spans molecular biology, genetics, bioinformatics, and oral medicine, with a strong focus on oncology and patient-centered care. Education: PhD in Biology, Molecular Reconstruction of a Genetic Code Alteration, University of Aveiro (2005) Research Interests: Raquel Silva’s research is centered on the molecular and genetic aspects of cancer, particularly in the context of oral health. Her work explores nutritional interventions during cancer treatment, oral mucositis in pediatric oncology, and the use of saliva as a non-invasive diagnostic and monitoring tool. She investigates biomarkers in medical-dental imaging, microbial changes in the oral cavity of cancer patients, and the molecular evolution of key enzymes. Her interdisciplinary approach integrates genomics, bioinformatics, and clinical dentistry to improve patient outcomes. Recent Research Trends: Her recent publications and projects reflect a strong emphasis on precision medicine, non-invasive diagnostics using saliva, and improving quality of life during cancer therapy. She leads and participates in multidisciplinary projects that combine oncology, nutrition, and dental medicine, often employing systematic reviews and clinical studies to guide evidence-based practices. Scientific Awards: Co-evolutionary study of NAD biochemical networks (Project Leader), 2010 EMBO Short-term Fellowship, 2003 eQTL analysis of the NAPRT locus, 2018 GoBack - New therapeutic targets for spinal cord injuries (Team Member), 2018 "HPV: sexo, cancro e prevenção", 2022 Supervision and Grants: Raquel Silva has extensive experience in student supervision, thesis examination, and participation in research evaluation panels. She has led and contributed to multiple funded research projects, including "NutriCancerMonitor" and "SPIT-it-AML", supported by national and European funding mechanisms such as Portugal2020. Her role as Principal Investigator and researcher demonstrates leadership in interdisciplinary health research. Laboratories and Research Teams: She is affiliated with CIIS and collaborates with multidisciplinary teams across institutions, focusing on health innovation, digital education in dentistry, and translational research in oncology and oral medicine.

Diego Villarمشاهده پروفایل

مدرس ارشد

• Gene Regulation
• Epigenetics
• Genomics
• +۴ مورد دیگر

Dr. Diego Villar is a Non-clinical Senior Lecturer at Queen Mary University of London's Blizard Institute, Faculty of Medicine and Dentistry. His laboratory integrates genomics, epigenetics, and bioinformatics to investigate myocardial gene regulation mechanisms and their implications in cardiovascular disease, while also exploring evolutionary adaptations in African mole-rats through comparative genomics. PhD in Molecular Biology Postdoctoral training in neurodegeneration Established BHF-funded independent research group Research focuses on transcriptional dynamics in mammals through: Functional genomics of non-coding elements Cardiovascular epigenetic profiling Evolutionary enhancer analysis Recent publications examine DNA methylation networks in mammalian traits, lineage-specific adaptations in subterranean species, and regulatory element contributions to cardiovascular pathology. Key projects include characterizing myocardial enhancers with disease-associated variants and exploring stress resistance mechanisms in hypoxia-adapted rodents. Scientific recognitions include: British Heart Foundation Basic Science Fellowship (2018) EMBO Short Term Fellowships (2016, 2009) Ramon y Cajal Merit Award (2016) CRUK Travel Award (2012) Current supervision includes: Dr. Stephanie Frost (BHF-funded Postdoctoral Scientist) Mr. Yu Huang (Regenerative Medicine MSc student) Alumni: Daniel Pavon Heredia (CONACYT MSc) and Yiling Wan (undergraduate project)

Emma Davenportمشاهده پروفایل

استاد

• Functional Genomics
• Clinical Data Integration
• Genetic Variation in Disease Response
• +۷ مورد دیگر

Dr. Emma Davenport is a Group Leader at the Wellcome Sanger Institute within the Human Genetics Programme, where she leads the Davenport Group focused on Functional Genomics of Variation in Disease Response. She joined the Sanger Institute in October 2018 after completing postdoctoral research at Harvard Medical School in Professor Soumya Raychaudhuri's lab at Brigham and Women's Hospital and the Broad Institute. Her research integrates functional genomics and clinical data to understand how genetics contributes to patient-to-patient heterogeneity in disease severity and treatment response. Dr. Davenport's primary research interests focus on diseases involving systemic inflammation such as sepsis and systemic lupus erythematosus (SLE). Her work employs sophisticated analytical methods to analyze functional genomics data from hundreds of patient cohorts, integrating this with clinical information. She specializes in transcriptomic profiling to stratify patients and understand individual responses to infections and autoimmune conditions. Her group investigates expression quantitative trait locus (eQTL) interactions to uncover how environmental factors modulate genetic regulatory effects on gene expression. Analysis of Dr. Davenport's publication record reveals a strong focus on patient stratification through transcriptomic signatures, particularly in sepsis where her group identified the Sepsis Response Signature (SRS) endotypes. Her research spans multiple areas including host-pathogen interactions, drug response variability, and single-cell eQTL mapping in autoimmune diseases. Recent work has expanded into multi-omics approaches, integrating genomic, transcriptomic, and proteomic data to understand the molecular basis of disease heterogeneity. Dr. Davenport has successfully mentored numerous PhD students and postdoctoral fellows who have contributed significantly to her research program. Her group collaborates extensively with clinical partners through initiatives like the Genomics Advances in Sepsis (GAinS) study and the Bioresource for Adult Infectious Diseases (BioAID), applying genomic approaches to improve diagnosis and treatment of infectious diseases.

Liang Chenمشاهده پروفایل

استاد

• Computational Biology
• Bioinformatics
• Alternative Splicing
• +۷ مورد دیگر

Liang Chen is a Professor of Quantitative and Computational Biology at the University of Southern California . He leads research efforts in developing advanced statistical and computational frameworks to unravel gene expression regulation mechanisms in eukaryotes, with a focus on post-transcriptional processes and their implications in human diseases. Research Emphasis: Alternative pre-mRNA splicing as a driver of proteomic diversity and disease Advanced RNA-seq data analysis and transcriptome comparison Quantitative trait locus mapping (eQTL, NMD-QTL) Network modeling of splicing regulation Notable Software Contributions: Development of BCseq (single-cell RNA quantification), CellTICS (explainable AI for cell-type identification), and WemIQ (isoform quantification). Current Research Directions: Integrating multi-omics data to study splicing-phenotype relationships, leveraging interpretable machine learning for personalized medicine, and exploring evolutionary conservation of gene regulatory mechanisms. Education: Ph.D. in Computational Biology, Yale University (2006) B.S. in Bioinformatics, Tsinghua University (2001) Ph.D. Advisees: Wei Jiang, Zheyu Li, Qingyang Yin, and Xinyu (Brian) Guo.