جست‌وجوی استاد و پژوهشگر

Elliot L. Dimbergمشاهده پروفایل

استاد بالینی

• Neuromuscular Disorders
• Clinical Neurophysiology
• Peripheral Nerve Disorders
• +۴ مورد دیگر

Dr. Elliot L. Dimberg is a neurologist specializing in neuromuscular disorders at Mayo Clinic Hospital in Jacksonville, Florida. He serves as faculty at Mayo Clinic Alix School of Medicine within the Department of Neurology, holding leadership roles including Vice Chair of the Curriculum Committee and Clerkship Sub Committee. Dr. Dimberg actively contributes to medical education through multiple committees related to student promotions, academic affairs, and residency program evaluation, while maintaining a clinical practice focused on complex neuromuscular conditions. Dr. Dimberg earned his MD from Tulane University in 2001. He completed his Neurology residency and served as Chief Resident at the University of Virginia, followed by fellowships in Clinical Neurophysiology at the University of Virginia (2006) and Neuromuscular Disease at Mayo Clinic Rochester (2008). He maintains board certification in Neurology, Clinical Neurophysiology, and Neuromuscular Medicine through the American Board of Psychiatry and Neurology. His clinical expertise spans neuromuscular junction disorders including myasthenia gravis and Lambert-Eaton Myasthenic Syndrome, peripheral neuropathies, brachial and lumbosacral plexus disorders, polyradiculopathies, motor neuron diseases, and myopathies. Dr. Dimberg integrates clinical evaluation with electrodiagnostic medicine to diagnose and manage these complex conditions. His research focuses on advancing diagnostic methodologies through electromyography techniques, genetic testing, and clinical trial participation for rare neuromuscular disorders. Dr. Dimberg's publication record demonstrates consistent contributions to neuromuscular medicine, with emphasis on diagnostic precision, genetic underpinnings of muscle disorders, and therapeutic innovations. His recent work includes clinical trials for hereditary transthyretin amyloidosis, studies on spinal muscular atrophy treatments, and investigations into immune-mediated necrotizing myopathy, reflecting his commitment to advancing both clinical practice and scientific understanding in his field. Multiple Above and Beyond Awards from Mayo Clinic in Florida (2008-2024) A.B. Baker Teacher Recognition Award from American Academy of Neurology (2013, 2021) Commitment to Education Award from Mayo Clinic Alix School of Medicine (2019) Alpha Omega Alpha Honor Society membership (2000) As an educator, Dr. Dimberg has coordinated the Residency Neuroanatomy Course and Clinical Pathological Correlation Conference for over a decade. He previously chaired the Curriculum Committee for the Adult Neurology Residency Program and currently serves in leadership roles for Mayo Clinic Alix School of Medicine's educational committees. His dedication to teaching has been recognized through numerous awards including the prestigious A.B. Baker Teacher Recognition Award. Professionally, Dr. Dimberg serves as Co-Chair of the American Association of Neuromuscular and Electrodiagnostic Medicine's EDX Lab Accreditation Committee and holds leadership positions in the American Clinical Neurophysiology Society. He contributes to developing certification exams, educational programming, and clinical guidelines for these organizations, maintaining active engagement with the broader neuromuscular medicine community.

• Cancer Metabolism
• Stem Cell Metabolism
• Metabolic Regulation of Cell Growth
• +۵ مورد دیگر

Heather R. Christofk is a Professor in the Department of Biological Chemistry at the David Geffen School of Medicine at UCLA. Her research focuses on the intricate relationship between cellular metabolism and various biological processes, particularly in the contexts of cancer development, stem cell function, and viral infections. Education: PhD in Cell and Developmental Biology from Harvard University (2007) BS in Molecular, Cell, and Developmental Biology from UCLA (2001) Dr. Christofk's research program centers on understanding how metabolic pathways regulate cellular processes in both normal physiology and disease states. Her laboratory has made significant contributions to understanding how cancer cells reprogram their metabolism to support rapid growth and proliferation, with particular focus on glucose metabolism, amino acid utilization, and metabolic adaptations in tumor microenvironments. She has also pioneered work on the metabolic regulation of stem cell function, especially in hair follicle stem cells, demonstrating how metabolic pathways control stem cell activation and differentiation. Her research has important implications for developing novel therapeutic approaches that target cancer metabolism while preserving normal tissue function. Analysis of Dr. Christofk's recent publications reveals a strong focus on metabolic heterogeneity across different biological contexts. Her work spans cancer metabolism (particularly in liposarcoma, melanoma, and hepatocellular carcinoma), stem cell metabolism (especially hair follicle stem cells), viral metabolism (including Epstein-Barr virus and Zika virus), and developmental metabolism (fetal development and organogenesis). A recurring theme is how metabolic pathways serve as regulatory nodes that control cell fate decisions, tumor progression, and therapeutic responses. Selected Research Funding: Metabolic Control of Hair Follicle Stem Cell Homeostasis and Tumorigenesis (NIH R01AR070245, 2018-2023) - Co-Principal Investigator Nutrient regulation of cancer cell growth (NIH R01CA215185, 2017-2022) - Principal Investigator Regulation of the Warburg Effect in Cancer (NIH DP2OD008454, 2011-2016) - Principal Investigator Dr. Christofk's laboratory maintains active collaborations across multiple disciplines, working with clinicians, basic scientists, and computational biologists to address complex questions in metabolism and disease. Her team employs a range of cutting-edge techniques including metabolomics, stable isotope tracing, molecular biology, and in vivo models to investigate metabolic regulation in health and disease.

Timothy D. O'Brienمشاهده پروفایل

استاد

• Veterinary Pathology
• Comparative Pathology
• Transplantation Biology
• +۴ مورد دیگر

Timothy D. O'Brien is a Professor and Division Head of Comparative Pathology in the Department of Veterinary Population Medicine at the University of Minnesota College of Veterinary Medicine. He holds multiple affiliations including the Stem Cell Institute, Masonic Cancer Center, and Institute for Engineering in Medicine. Dr. O'Brien also serves as faculty for the Masters Program in Stem Cell Biology. Dr. O'Brien earned his BS, DVM, and PhD degrees from the University of Minnesota in 1976, 1978, and 1985 respectively. He is a Diplomate of the American College of Veterinary Pathologists (Anatomic Pathology, 1984). His research spans veterinary pathology, transplantation biology, stem cell research, and cancer biology with a focus on comparative pathology models. He has made significant contributions to understanding interspecies organogenesis, islet xenotransplantation, and animal models for human diseases. His work bridges veterinary and human medicine, exploring translational applications of findings from animal models to human conditions. Recent publications highlight innovative approaches to transplantation without long-term immunosuppression and studies on hemangiosarcoma biology. Dr. O'Brien's publication record demonstrates expertise across multiple disciplines including diabetes research using feline models, lung cancer heterogeneity, and innovative transplantation techniques. His work frequently involves interdisciplinary collaborations across veterinary medicine, engineering, and human medical specialties, reflecting the integrative nature of modern biomedical research. His research program involves extensive collaborations across the University of Minnesota and beyond, working on projects related to stem cell biology, cancer research, and transplantation medicine. As Division Head of Comparative Pathology, he oversees diagnostic pathology services while maintaining an active research program that contributes to advancing our understanding of disease mechanisms through comparative approaches.

Fabiola Ceroniمشاهده پروفایل

پژوهشگر ارشد

• Developmental Eye Disorders
• Genomics
• Structural Variants
• +۳ مورد دیگر

Fabiola Ceroni is a Senior Research Fellow at Oxford Brookes University's School of Biological and Medical Sciences, specializing in the Molecular Genetics of Human Eye Development . Her research focuses on identifying novel genes and molecular mechanisms underlying developmental eye disorders through advanced genomic techniques. Institution: Oxford Brookes University School: School of Biological and Medical Sciences Role: Senior Research Fellow in Professor Ragge's team Her work primarily addresses developmental eye disorders such as anophthalmia, microphthalmia, and coloboma, utilizing whole genome/exome sequencing and copy number variant analysis . Recent publications highlight her contributions to understanding genetic regulation in eye development and neurodevelopmental disorders. Key trends in her publications include: Genotype-phenotype correlations in developmental eye disorders Role of structural variants and non-coding sequences in congenital anomalies Genetic mechanisms in autism spectrum disorder and neurodevelopmental syndromes CRISPR/Cas9 applications for functional validation She collaborates with multidisciplinary teams and contributes to open-access research, with publications available via Oxford Brookes' Research Repository (RADAR).

Paul Marcoglieseمشاهده پروفایل

استادیار

• Neurological Disease Mechanisms
• Molecular Genetics
• Functional Genomics
• +۷ مورد دیگر

Dr. Paul Marcogliese is an Assistant Professor in the Department of Biochemistry & Medical Genetics at the University of Manitoba’s Max Rady College of Medicine. He leads the Marcogliese Lab, focused on understanding the molecular and cellular mechanisms underlying neurological disorders such as autism, Parkinson’s disease, and rare conditions like NEDAMSS. His work employs Drosophila melanogaster and mouse models to assess genetic variants and develop therapeutic strategies. Dr. Marcogliese holds a PhD in Neuroscience from the University of Ottawa and completed postdoctoral training at Baylor College of Medicine, where he studied neurodegenerative disease mechanisms. His research integrates functional genomics, disease modeling, and drug screening to identify genetic drivers of neurological disorders and potential treatments. Key research interests include: Functional assessment of human disease variants using Drosophila and murine models Role of Wnt signaling in neurodegeneration and neurodevelopmental disorders Identification of novel therapeutic targets for rare and common neurological conditions Dr. Marcogliese is affiliated with the Children’s Hospital Research Institute of Manitoba (CHRIM) and co-leads the ENRRICH and MGM research groups. He currently accepts Master’s and PhD students. His lab has secured grants from Brain Canada and the Manitoba Medical Service Foundation, among others. Recent achievements include the 2023 Shaun Lamoureux Legacy Award for grant writing and the 2024 Brain Canada Future Leaders award. His work has been published in Genome , Neurobiology of Disease , and other high-impact journals.

Damian Smedleyمشاهده پروفایل

استاد

• Computational Genomics
• Genotype-Phenotype Analysis
• Rare Disease Genetics
• +۳ مورد دیگر

Professor Damian Smedley is a Professor of Computational Genomics at Queen Mary University of London, affiliated with the William Harvey Research Institute's Clinical Pharmacology and Precision Medicine department. His research focuses on integrating clinical and model organism phenotype data to elucidate human disease mechanisms, particularly through initiatives like the International Mouse Phenotyping Consortium (IMPC) and the MorPhic project. He leads the development of the Exomiser software, a critical tool for prioritizing genetic variants in rare disease diagnostics, widely used in global projects such as the UK's 100,000 Genomes Project and NHS Genomic Medicine Service. His work bridges computational biology, genetics, and clinical translation, with collaborations spanning academia and industry. Key research areas include genotype-phenotype associations, precision medicine, and federated machine learning applied to multiomics data. Funded by NIH, MRC, Horizon Europe, and Barts Charity, his team collaborates with institutions like the Berlin Institute of Health and the University of Colorado. Notable contributions include advancing diagnostic pipelines for rare diseases and understanding the role of missense variants in genetic disorders. His group's work has been featured in high-impact studies, such as identifying novel disease genes through cross-species phenotype comparisons and optimizing variant prioritization algorithms. External collaborations include Prof. Peter Robinson (Berlin) and Dr. Chris Mungall (Lawrence Berkeley Lab), reflecting his global impact in computational genomics.

Shweta U. Dharمشاهده پروفایل

استاد

• Adult Genetics
• Cancer Genetics
• Genetic Disorders
• +۲ مورد دیگر

Shweta U. Dhar, MD, MS, FACMG, FACP, is a Professor and Medical Director of Adult Genetics at Baylor College of Medicine (BCM) in Houston, TX. She serves as Section Chief of Genetics at the Michael E. DeBakey VA Medical Center and is a member of the Dan L Duncan Comprehensive Cancer Center. She holds certifications from the American Board of Internal Medicine and American Board of Medical Genetics. Education includes: MBBS from NHL Municipal Medical College, Ahmedabad, India (1997) Residency in Pathology & Microbiology at Gujarat Cancer Research Institute (1999) MS in Biotechnology from Stephen F Austin State University, TX (2001) Internal Medicine Residency at New York INF Beekman Downtown Hospital (2006) Medical Genetics Fellowship at Baylor College of Medicine (2008) Her research focuses on diagnosis and management of adult genetic conditions, including: Single-gene disorders, chromosomal abnormalities, and familial cancer syndromes Cancer risk assessment and reproductive genetics Medical education innovation in genetics/genomics Healthcare delivery models for complex genetic conditions She directs BCM's Genetics course and founded the Genetics & Genomics Pathway for medical students. Recent publications demonstrate strong focus on clinical applications of genetics in neurodevelopmental disorders (Alexander disease, autism), cancer risk management (BRCA1, retinoblastoma), and healthcare system improvements. Her work frequently spans neurogenetics, cancer genetics, and medical education. Awards and honors: Fulbright & Jaworski Teaching & Evaluation Award (2013) Rising Star Clinician Award (2014) Fulbright & Jaworski Educational Leadership Award Clark Faculty Service Award (2018) Women of Excellence Award (2020) As Chair of the ACMG Adult Genetics Special Interest Group, she launched the Adult & Cancer Diagnostic Dilemmas session at national meetings. She serves on the ACMG Board of Directors as Clinical Director and leads clinical operations across BCM, VA, and Harris Health System genetics clinics.

Vanessa Aguiar-Pulidoمشاهده پروفایل

استادیار

• Bioinformatics
• Machine Learning
• Artificial Intelligence
• +۶ مورد دیگر

Dr. Vanessa Aguiar-Pulido is an Assistant Professor in the Computer Science department within the College of Arts and Sciences at the University of Miami. Her research focuses on the intersection of computer science and biomedical sciences, specifically developing computational tools to address challenges in genetic disorders and precision medicine. Her research interests include: Bioinformatics and computational genomics Machine learning and artificial intelligence applications in healthcare Big data analytics for genetic disorders Neural tube defects and spina bifida research Epigenetics and omics data integration Development of algorithms for candidate gene analysis Dr. Aguiar-Pulido's recent publications demonstrate a strong trend toward applying advanced machine learning techniques to understand genetic disorders, particularly neural tube defects and autism spectrum disorder. Her work frequently involves developing novel computational approaches that integrate multiple data types to identify genetic risk factors and biological pathways. A significant portion of her research focuses on spina bifida and epilepsy-related genetic analysis, showing consistent thematic focus in her scholarly output. Her scientific contributions include: Development of RExPRT, a machine learning tool for predicting pathogenicity of tandem repeat loci Creation of EpiPred, a gene-specific model for classifying missense variants in epilepsy-related genes Innovative approaches using embedded feature selection to pinpoint biological pathways in structural birth defects Dr. Aguiar-Pulido leads or participates in several funded research projects: Center for Accelerated Real Time Analytics (CARTA) (2021-2022) - NSF (Project Leader) Epilepsy Multiplatform Variant Prediction (2020-2025) - NIH (Co-Investigator) Progenitor regulation underlying cortical interneuron specification (2018-2023) - NIH (Key Personnel) Risk Genes and Environmental Interactions in Neural Tube Defects (2018-2023) - NIH (Researcher) Hybrid sequencing for improved genetic diagnosis in clinical settings (2019-2020) - Sackler Research Grant (Principal Investigator) She directs the DSaCB Lab, which focuses on developing computational approaches to address challenges in biomedical research, particularly related to genetic disorders. Her lab's work bridges computer science methodologies with real-world clinical applications in precision medicine.

Anthony Antonellisمشاهده پروفایل

استاد

• Transcriptional Regulation
• Genetic and Molecular Mechanisms of Mendelian Disease
• Aminoacyl-tRNA Synthetase Mutations
• +۳ مورد دیگر

Anthony Antonellis is a Professor of Human Genetics at the University of Michigan Medical School. His research focuses on transcriptional regulation and the genetic and molecular mechanisms of Mendelian disease, particularly mutations in aminoacyl-tRNA synthetases linked to neuropathies and neurodevelopmental defects. He is affiliated with the Antonellis Laboratory and the Cell and Molecular Biology (CMB) program. Implicit Bias Training Allayship Training Anti-Racism Training Disability Awareness Training Bystander Training Gender Bias/Discrimination Training Research areas include studies of gene regulation via cis-acting elements in myelinating cells, and the role of tRNA charging enzymes in neurodegenerative and developmental disorders. His group employs model organisms like yeast and zebrafish to explore clinical heterogeneity and disease mechanisms. Articles highlight Mendelian disorders, neuropathy genetics, tRNA synthetase dysfunction, and neurogenetics, with emphasis on translation to clinical diagnostics and therapeutics. Contact: antonell@umich.edu

• Structural Bioinformatics
• Protein Stability Prediction
• Machine Learning in Biology
• +۳ مورد دیگر

Emidio Capriotti is an Associate Professor at the Department of Pharmacy and Biotechnology, University of Bologna. He leads the Second Cycle Degree in Bioinformatics and holds a PhD in Physical Sciences. His research focuses on predicting protein stability changes due to genetic variations using machine learning, with applications in personalized medicine. He develops tools like DDGun and PhD-SNPg for variant interpretation. Teaching includes courses on Bioinformatics, Biophysics, and Lab Techniques for Bioinformatics. His work bridges computational methods and biological problems, particularly in cancer genomics and protein structural analysis. Education: PhD in Physical Sciences from the University of Bologna. Research interests include structural bioinformatics, protein folding, and the interplay between genomic variations and disease. He collaborates with initiatives like CAGI challenges and ELIXIR-IT to advance genomic data infrastructure. Publications emphasize protein stability prediction, federated learning in clinical settings, and benchmarking computational methods. His lab contributes to open-source tools and standards for reproducible machine learning in biology.

Zeynep Erson Omayمشاهده پروفایل

استادیار

• Computational Biology
• Genomics
• Epigenomics
• +۶ مورد دیگر

Dr. Zeynep Erson Omay serves as an Assistant Professor in the Department of Neurosurgery and Biomedical Informatics & Data Science at Yale School of Medicine. Her work bridges computational biology with neurosurgical oncology, focusing on precision medicine applications for brain tumors, with particular emphasis on understanding tumor heterogeneity and molecular mechanisms of CNS tumors. Dr. Erson Omay's educational background includes: PhD in Computer Science from Case Western Reserve University (2011) MS in Computer Science from Bilkent University (2005) BS in Computer Science from Bilkent University (2003) Her research focuses on computational analysis of multi-omic datasets to understand tumor heterogeneity, particularly in central nervous system tumors. Dr. Erson Omay specializes in genomic, transcriptomic, and epigenetic profiling of brain tumors, with emphasis on meningiomas, glioblastomas, and rare CNS tumor subtypes. She leads the Erson Lab, which develops bioinformatics approaches to study large datasets and reveal molecular mechanisms in tumor formation, progression, and clinical outlier subgroups. Her work in precision medicine aims to decipher the molecular architecture of individual tumors to guide personalized treatment approaches, with significant contributions to understanding tumor ecosystems and evolutionary patterns in brain cancers. Dr. Erson Omay's scientific contributions span neuro-oncology, computational biology, and precision medicine, with a strong emphasis on translating genomic findings into clinical applications. Her publications demonstrate consistent innovation in applying computational methods to complex neurosurgical problems, with particular focus on tumor heterogeneity, molecular classification, and racial disparities in tumor genomics. Her notable scientific awards include: 10x Genomics 2021 Pilot Award (2022) Mission Bio Tapestri Grant (2022) Case Western Reserve University, Research ShowCASE-Best Poster Award (2007) Dr. Erson Omay actively mentors students and researchers at various levels, including undergraduate students, graduate students, postdocs, and postgraduate associates. She collaborates extensively within Yale's neurosurgery department and across disciplines to advance computational approaches to brain tumor research. Her work is supported by various grants that enable the development of novel bioinformatics platforms for tumor genomic characterization. She leads the Erson Lab, which focuses on three major research areas: Tumor Ecosystem (studying interactions among tumor and immune cells), Tumor Evolution and Heterogeneity (understanding temporal and spatial tumor evolution), and Precision Medicine (applying genomic techniques to personalize brain tumor treatment). The lab employs diverse omics technologies to explore brain tumor biology and develop computational methods for precision medicine applications.

Katarina Pelinمشاهده پروفایل

مدرس ارشد

• Genetics
• Developmental Biology
• Physiology
• +۲ مورد دیگر

Katarina Pelin is a Senior University Lecturer at the University of Helsinki, affiliated with the Faculty of Biological and Environmental Sciences and the Molecular and Integrative Biosciences Research Programme. Her work focuses on Genetics, Developmental Biology, and Physiology , particularly in neuromuscular disorders like nemaline myopathy. 1985–present: Active researcher in neuromuscular disorders 2012–present: Co-PI and administrative leader at Folkhälsan Institute of Genetics Her recent publications (2021–2025) highlight advancements in genetic diagnostics for muscle diseases, including linked-read sequencing , ddPCR methods , and phenotype-genotype correlations . Key genes studied: TNNT1 , NEB , ACTA1 , and TPM3 . She actively contributes to peer review (Acta Neurologica Belgica, BMC Pediatrics, Science Translational Medicine) and doctoral supervision . Her research emphasizes copy number variations , gene expression , and muscle regulatory proteins .

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

Dr. Hannah Carter is a Professor of Medicine at the University of California San Diego (UCSD), affiliated with the School of Medicine and the Department of Biomedical Informatics. She specializes in computational modeling of tumor genomics, focusing on how DNA mutations influence cellular processes and cancer development. Her research integrates high-dimensional genomic data to identify cancer drivers and improve precision medicine approaches. Education: MEng in Electrical and Computer Engineering (University of Louisville, 2004), PhD in Biomedical Engineering (Johns Hopkins University, 2012). Research interests include cancer genomics, bioinformatics tool development, and the application of network approaches to oncology. Key projects include NIH-funded studies on tumor mutation stratification and immune surveillance disruption in cancer. Publications span computational methods for variant analysis (e.g., CHASM toolkit) and mechanistic studies linking genomic changes to cellular behavior. Her work has been recognized through awards like the NIH Early Independence Award (2013) and the Azrieli Global Scholar distinction (2017). Labs and affiliations include the Division of Biomedical Informatics and Division of Medical Genetics at UCSD. She leads collaborative initiatives on genomic variation impacts in pancreatic beta cells and cancer-immune interactions.

Warren D. Krugerمشاهده پروفایل

استاد

• Amino Acid Genetics
• Cancer Metabolism
• Mouse Models
• +۵ مورد دیگر

Warren D. Kruger is a Professor in the Cancer Signaling and Microenvironment program at Fox Chase Cancer Center, part of Temple University Health System. His research focuses on amino acid genetics and human disease, particularly methionine metabolism and its role in cancer and metabolic disorders. He leads an active laboratory studying the methionine salvage pathway gene MTAP and cystathionine beta-synthase (CBS) deficiency using mouse models. Educational Background: BA in Biology, Cornell University, Ithaca, NY (1985) PhD in Genetics, University of California at San Francisco, San Francisco, CA (1991) Dr. Kruger's research centers on understanding how mutations affecting key enzymes in methionine metabolism cause disease. His lab investigates four major projects: the role of MTAP in tumorigenesis, targeting MTAP-loss for cancer therapy, mouse models for CBS deficiency, and alterations in serum amino acids in renal cell carcinoma. His work has significant implications for understanding metabolic pathways connecting folate/nucleotide biosynthesis, sulfur and redox metabolism, choline and lipid metabolism, and methylation reactions involving S-adenosylmethionine. Analysis of Dr. Kruger's recent publications reveals a strong focus on CBS deficiency and MTAP deletion in cancer. His research employs mouse models, metabolic profiling, and therapeutic development approaches. Key trends include developing gene therapy for metabolic disorders, identifying biomarkers for renal cell carcinoma, and exploring novel cancer therapies targeting metabolic vulnerabilities. Scientific Awards: American Heart Association Researcher Award (2006) Elected President of Fox Chase Cancer Center Faculty Senate (2010) Dr. Kruger leads an active research laboratory with several senior staff members including Sapna Gupta, PhD (Senior Research Associate), Baiqing Tang, PhD (Senior Research Associate), Hyung-Ok Lee, PhD (Assistant Research Professor), and Liqun Wang, MD (Senior Technical Specialist). His lab has received significant funding for research on methionine metabolism, CBS deficiency, and MTAP deletion in cancer. Current projects include developing novel therapeutic approaches for homocystinuria and exploring metabolic vulnerabilities in cancer cells. The Kruger lab maintains four major research areas focused on methionine metabolism: understanding the role of MTAP in tumorigenesis, developing the MTA protection strategy for cancer therapy, creating mouse models for CBS deficiency, and investigating serum amino acid alterations as biomarkers for renal cell carcinoma. The lab employs advanced techniques including metabolic profiling, gene therapy approaches, and sophisticated molecular analyses to address these research questions.

Alessio Branchiniمشاهده پروفایل

دانشیار

• Protein engineering
• Molecular mechanisms
• Coagulation factors
• +۵ مورد دیگر

Alessio Branchini is an Associate Professor in the Department of Life Sciences and Biotechnology at the University of Ferrara. His research focuses on protein engineering, molecular mechanisms, and coagulation factors with particular emphasis on hemophilia and related blood disorders. Dr. Branchini's research interests span protein engineering, molecular mechanisms of coagulation factors, fusion protein technology, and ribosome readthrough. He investigates how genetic mutations affect coagulation proteins, particularly factor IX in hemophilia B, and develops molecular approaches to correct these defects. His work combines structural biology, molecular genetics, and therapeutic development to address bleeding disorders. His publication record shows a strong focus on coagulation factors, particularly factor IX and VIII, with recent work exploring translational readthrough mechanisms, splice site corrections using engineered U1snRNAs, and CRISPR-based approaches to activate coagulation gene promoters. His research bridges basic molecular mechanisms with potential therapeutic applications for hemophilia and related disorders. Dr. Branchini has published extensively in top hematology and molecular biology journals including Journal of Thrombosis and Haemostasis, where he has contributed numerous articles on coagulation factor mechanisms and therapeutic approaches. His collaborative work with researchers like Pinotti M, Bernardi F, and others demonstrates a strong research network focused on bleeding disorders.