جست‌وجوی استاد و پژوهشگر

• Biochemistry
• Molecular Biology
• RNA Processing
• +۳ مورد دیگر

Alexandra Bergfort is a Research Fellow in the Neugebauer Lab at the Yale School of Medicine, Yale University. She holds a PhD in Biochemistry from Freie Universität Berlin (2020). Her research focuses on RNA processing mechanisms, particularly the interplay between RNA splicing, polyadenylation, and protein interactions in gene expression regulation. Education: PhD in Biochemistry, Freie Universität Berlin, 2020 Research Interests: Bergfort investigates molecular processes governing RNA maturation, including alternative polyadenylation site selection, spliceosome dynamics, and the role of intrinsically disordered proteins in snRNP assembly. Her work integrates biochemistry and molecular genetics to elucidate how these mechanisms impact cellular function and disease pathogenesis. Recent Work Trends: Recent publications emphasize protein-RNA interactions (e.g., TSSC4's role as a helicase inhibitor) and the regulatory roles of spliceosome components like BRR2 in diseases linked to alternative splicing defects, such as neurodegenerative disorders. Lab Affiliation: Neugebauer Lab, focused on RNA biology and gene expression regulation.

• Bioinformatics
• Evolutionary Biology
• Comparative Genomics
• +۳ مورد دیگر

Berend Snel is a Professor of Bioinformatics at Utrecht University, Faculty of Science, Department of Biology. He leads the Evolutionary Genomics and Integrative Bioinformatics group and serves as chair of the executive board of the Utrecht Bioinformatics Center. His work contributes to Sustainable Development Goals related to life sciences and bioinformatics research. His research expertise spans across several domains: Evolutionary Biology Bioinformatics Comparative Genomics Eukaryote Evolution Big Data Analysis in Life Sciences Professor Snel's research focuses on the evolutionary genomics of eukaryotes, with particular interest in gene duplication, orthology, paralogy, and kinetochore evolution. His work integrates computational approaches with biological insights to understand fundamental evolutionary processes. His fingerprint analysis reveals strong contributions to research on Eukaryotes (100%), Genomics (84%), Gene Duplication (49%), Arabidopsis (47%), Kinetochore (46%), Orthology (46%), and Paralogy (44%). His recent publication trends show a continued focus on eukaryotic evolution, with particular emphasis on metabolic pathways, chromosome segregation mechanisms, spliceosome evolution, and the genomic consequences of endosymbiosis. His work increasingly integrates phylogenomics with structural and functional analyses to reconstruct evolutionary histories. Scientific recognition includes: NWO-Vici award (2015) Professor Snel has supervised numerous students and researchers, with 13 supervised works documented. His group participates in the Utrecht Exposome Hub and contributes to integrative bioinformatics approaches in life sciences. He serves on editorial boards for BMC Bioinformatics and Biology Direct, and Scientific Reports, and participates in PhD committees and national/international grant panels. His group is actively involved in several major conferences including NBCI, BioSB, and BBC.

Henriette Skovgaard Andersenمشاهده پروفایل

پژوهشگر

• Molecular Biology
• Biochemistry
• RNA Splicing
• +۳ مورد دیگر

Henriette Skovgaard Andersen is a researcher at the Department of Biochemistry and Molecular Biology, University of Southern Denmark. Her work focuses on molecular biology, genetics, and RNA splicing mechanisms, particularly in neurodegenerative diseases like spinal muscular atrophy and Costello syndrome. She utilizes advanced sequencing technologies and oligonucleotide-based therapies to explore gene regulation and splicing defects. Her research spans translational medicine, with a focus on: RNA splicing regulation in genetic disorders Development of splicing-correcting therapeutics Neurodegenerative disease mechanisms Recent publications highlight her expertise in SMN2/SMN1 gene interactions, HRAS mutations, and resveratrol's role in metabolic disorders. Collaborations include international conferences and workshops on sequencing technologies and presentation techniques. She contributes to peer-reviewed journals and is involved in academic workshops, demonstrating active participation in research networks and educational events.

• RNA structure and function
• RNA splicing mechanisms
• RNA enzymes
• +۶ مورد دیگر

Anna Marie Pyle is a Sterling Professor at Yale University in the Departments of Molecular, Cellular and Developmental Biology and Chemistry. She is a Howard Hughes Medical Institute Investigator since 1997 and has held leadership roles including President of the RNA Society and Chair of the NIH MSFA Study Section. Her research focuses on RNA structure, RNA remodeling enzymes, and innate immune receptors. She has authored over 190 publications and mentored over 40 students/postdocs. **Education:** B.S. in Chemistry (Princeton University), Ph.D. in Chemistry (Columbia University, 1990). Postdoctoral training at the University of Colorado with Thomas Cech. Joined Yale in 2002. **Research:** Pioneered structural studies of group II introns and the spliceosome. Her lab investigates RNA tertiary structures, viral RNA biology, and RIG-I signaling. Key contributions include understanding RNA helicases, antiviral immunity, and lncRNA structural biology. Collaborates with industry (e.g., Arrakis Therapeutics) on RNA-based therapeutics. **Awards:** HHMI Investigator, National Academy of Sciences member, AAAS Fellow. Recognized for innovations in RNA structure-function relationships. **Grants & Labs:** Leads the Pyle Lab at Yale, funded by NIH and HHMI. Active in developing RIG-I agonists for cancer immunotherapy and antifungal drugs targeting RNA splicing.

Tony Russellمشاهده پروفایل

دانشیار

• RNA Biology
• Evolutionary Biology
• Molecular Genetics
• +۵ مورد دیگر

Tony Russell is an Associate Professor in the Department of Biological Sciences at the University of Lethbridge. He earned his PhD in Biochemistry and Molecular Biology from the University of British Columbia and completed postdoctoral research at Dalhousie University, focusing on small RNA structure and evolution in unicellular eukaryotes. Education: PhD, University of British Columbia (Biochemistry and Molecular Biology) Postdoctoral Fellow, Dalhousie University The Russell lab investigates RNA biology and evolution through studies of small RNAs and protein-RNA complexes in protists. Key research areas include spliceosome evolution, intron dynamics, and genomic strategies to identify non-coding RNAs. Organisms under study include Euglena gracilis , Giardia lamblia , and Phytophthora species, with implications for understanding human diseases and pathogen biology. His publications in journals like Nature and RNA highlight discoveries such as ancient spliceosomal introns and novel snoRNA structures. The lab employs biochemical, structural, and bioinformatic approaches to unravel RNA functions and their evolutionary trajectories. Current research involves sequencing protist genomes to annotate small RNA genes and developing methods for identifying RNA modifications. The lab's work contributes to foundational knowledge in eukaryotic biology and potential applications in combating parasitic pathogens.

Reinhard Lührmannمشاهده پروفایل

استاد

• Cellular Biochemistry
• RNA Splicing
• Structural Biology
• +۳ مورد دیگر

Reinhard Lührmann is a leading scientist in cellular biochemistry and RNA splicing. Since 1999, he has served as Director of the Department of Cellular Biochemistry at the Max Planck Institute for Biophysical Chemistry in Göttingen, Germany. He holds Honorary Professorships at both Philipps University of Marburg (since 2007) and Georg August University of Göttingen (since 2000). His research focuses on the structure and function of the spliceosome, a critical complex in RNA processing. Education: Dr. rer. nat. (Ph.D.) in Biochemistry, University of Münster (1975) Research Interests: Lührmann’s work explores the molecular mechanisms of RNA splicing, emphasizing the dynamic architecture of spliceosomes. His team uses advanced structural biology techniques like cryo-EM to elucidate the 3D organization of spliceosomal components and their interactions. This research has profound implications for understanding gene regulation and related diseases. Scientific Awards: Max Planck Research Prize (1990) Gottfried Wilhelm Leibniz Prize of the DFG (1996) Feldberg Prize (2002) Ernst Jung Prize for Medicine (2003) Member of EMBO, Leopoldina, and Academia Europaea Contributions: His publications highlight groundbreaking work in reconstituting spliceosomal processes and mapping their structural dynamics, contributing significantly to the field of molecular biology and RNA research.

• RNA Processing
• Alternative Splicing
• Gene Expression Regulation
• +۵ مورد دیگر

Sherif Abou Elela is a researcher affiliated with the University of Sherbrooke and its Centre de recherche du CHUS . His work focuses on RNA processing, stability, and alternative splicing, with implications in cancer biology and gene expression regulation. Education: Postdoctorate, University of California, Santa Cruz (1997) PhD in Biology, University of Guelph (1994) BSc, University of Qatar (1987) Research Interests: RNA processing and stability in gene expression, splicing program modulation in cancer and stress, snoRNA biology, yeast RNA metabolism, and RNA-binding proteins. He explores how RNA decay and splicing mechanisms can inform mammalian models and human disease diagnostics. Article Trends: Recent work emphasizes snoRNA annotation tools (e.g., SnoBIRD), stress-induced splicing adaptations (cells resist starvation), yeast RNase III roles in gene regulation, and cancer-specific non-coding RNA interactions (e.g., H/ACA snoRNAs). Computational approaches (snoDB, SAPFIR, snoGloBe) and yeast as a model organism are recurring themes. Patents & Contributions: He holds patents for methods to reprogram splice site selection and cancer biomarker discovery. He organized the Ribo Club conference, indicating leadership in RNA research.

Reinhard Lührmannمشاهده پروفایل

استاد

• RNA Splicing
• Spliceosome Structure
• Molecular Biology
• +۳ مورد دیگر

Reinhard Lührmann is a Professor and Director at the Max Planck Institute for Multidisciplinary Sciences, leading the Department of Cellular Biochemistry. He holds an honorary professorship at Georg-August University of Göttingen. His research focuses on RNA splicing mechanisms, particularly the spliceosome's structure and function. He earned his PhD from the University of Münster in 1975 and has held roles at the Max Planck Institute for Molecular Genetics (1981–1988), University of Marburg (1988–1999), and currently directs the MPI department since 1999. Research Interests: Lührmann’s lab investigates how the spliceosome recognizes intron/exon boundaries in complex metazoan pre-mRNAs, the assembly of catalytically active spliceosomes, and the structural basis of splicing. Techniques include biochemical purification, mass spectrometry, RNA engineering, X-ray crystallography, and cryo-EM to visualize spliceosome components. Work emphasizes mammalian systems but also uses yeast for core mechanisms. Publications highlight structural insights into spliceosome activation, RES complex roles, and small molecule inhibitors targeting splicing. Collaborations with structural biologists (e.g., Stark, Kastner) and functional studies on catalytic steps underscore his interdisciplinary approach. Labs/Teams: His group is part of the Max Planck Institute’s Molecular Biology and Structural Biology research networks. The lab’s homepage is here .

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.

Grzegorz Kudlaمشاهده پروفایل

پژوهشگر ارشد

• RNA Synthetic Biology
• Codon Usage Bias
• RNA Folding
• +۷ مورد دیگر

Grzegorz Kudla is a group leader at the MRC Human Genetics Unit within the University of Edinburgh's Institute of Genetics and Cancer. His research combines synthetic biology, next-generation sequencing, and computational modeling to investigate RNA sequence-function relationships. PhD in Biochemistry (2005), International Institute of Molecular and Cell Biology, Warsaw MSc in Animal Physiology (2000), Warsaw University Research focuses on: Codon usage bias and gene expression RNA folding dynamics High-throughput genotype-phenotype mapping RNA-RNA interaction networks Applications in disease mutation analysis Selected publications reveal expertise in RNA toxicity mechanisms (2018), SARS-CoV-2 RNA structure (2021), and homodimer mapping techniques (2022). Methodological innovations include the CLASH system for RNA interaction analysis. Wellcome Trust Senior Research Fellow Current lab members include 5 PhD students and 1 MRes student. Collaborations span institutions like University of Bath, Thermo Fisher Scientific, and University of Cambridge.

Simona Poloمشاهده پروفایل

دانشیار

• Ubiquitin signaling
• Cellular signal transduction
• Endocytosis
• +۵ مورد دیگر

Simona Polo is an Associate Professor at the Department of Oncology and Hemato-Oncology, University of Milan, and Director of the Molecular Machines in Signaling Pathways research program at IFOM since 2005. Her work focuses on deciphering ubiquitin's role in cellular communication systems, particularly in cancer and neurodegenerative disease contexts. University of Milan (Biology, 1991) San Raffaele Hospital (Molecular Virology, 1996-1999) European Institute of Oncology (Endocytosis research, 1999-2005) IFOM (Signaling pathways, 2005-present) Her research revealed ubiquitin as a multifaceted signaling device governing processes like EGFR internalization, lysosomal damage response, and neuronal integrity in ALS. She has trained over 20 researchers, including Elena Maspero and Carlos Alberto Niño Suarez. Key awards include EMBO Young Investigator (2009), EMBO Membership (2016), and Milan's Ambrogino d'Oro (2018). Scientific Trends : Polo's publications show sustained focus on ubiquitin's role in endocytosis, cancer signaling, and neurodegenerative disorders. Her structural biology work (X-ray crystallography) and proteomic analyses of ubiquitin networks underpin therapeutic target identification in EGFR-dependent tumors. Honors : EMBO Young Investigator Award (2009) EMBO Membership (2016) Ambrogino d'Oro Civic Medal (2018) Research Impact : Her lab has produced 40+ papers in top journals like Nature and Cell. The team's discovery of ubiquitin's role in lysophagy and identification of novel ubiquitin-binding domains (e.g., CoCUN) have advanced understanding of protein homeostasis in health and disease.

• Developmental Neuroscience
• Cortical Development
• GABAergic Interneurons
• +۴ مورد دیگر

John Rubenstein is a distinguished Professor of Psychiatry at the University of California, San Francisco (UCSF) Weill Institute for Neurosciences within the School of Medicine. His research focuses on the genetic regulation of brain development, particularly cortical development, GABAergic interneuron formation, and neurodevelopmental disorders including autism spectrum disorders and epilepsy. Stanford BS 1977 Chemistry Stanford Biophysics 1982 Membrane Structure and Biogenesis Stanford MD 1986 Pasteur Institute, Paris Postdoc 1986 Mouse Embryology Stanford Residency 1991 Psychiatry Rubenstein's research spans developmental neuroscience, investigating how genetic factors control the formation of neural circuits, particularly focusing on the role of DLX transcription factors in forebrain development. His work bridges molecular genetics with neurophysiology, examining how disruptions in developmental processes lead to neurodevelopmental disorders. He has pioneered research on GABAergic interneuron development and their role in conditions like autism and epilepsy. Analysis of Rubenstein's recent publications reveals a strong focus on transcriptional regulation of cortical development, particularly the role of DLX genes and enhancer elements in controlling neural cell fate. His work increasingly integrates advanced genomic techniques with traditional developmental biology approaches, examining both mouse models and human tissue to understand conserved mechanisms of brain development. Recent work has expanded into translational applications, including cell therapy approaches for epilepsy. W. Maxwell Cowan Award for Developmental Neuroscience (2021) National Academy of Sciences (2020) Ruane Prize for Outstanding Child and Adolescent Psychiatric Research (2016) National Academy of Medicine (2006) Cajal Club Krieg Cortical Discoverer Award (2004) Rubenstein has secured continuous NIH funding since 1992, currently leading multiple R01 grants focused on genetic studies of cortex structure and development, identification of enhancers defining cortical interneuron types, and genetic control of basal telencephalic development. His laboratory has trained numerous scientists who have gone on to establish independent research careers in neuroscience. The lab maintains strong collaborative relationships with other leading neuroscience institutions and has been instrumental in developing resources for the broader neuroscience community. The Rubenstein lab operates within the UCSF Weill Institute for Neurosciences, collaborating closely with other research groups focused on brain development and neurological disorders. The team employs a multidisciplinary approach combining molecular genetics, genomics, electrophysiology, and behavioral analysis to understand the mechanisms underlying proper brain development and how disruptions lead to neurodevelopmental conditions.

• Cancer Biology
• Hematopoietic Malignancies
• Extracellular Vesicles
• +۶ مورد دیگر

Margaret McGee is an Associate Professor at the School of Biomolecular and Biomedical Science , University College Dublin , with a research focus on cancer biology and extracellular vesicle signaling. Her work spans hematological malignancies, bone marrow microenvironment interactions, and mitotic regulatory mechanisms. She coordinates major modules including Genetic Basis of Disease and Regulation of Gene Expression . BSc University of Reading Dip Applied Science Dublin Institute of Technology PhD Biochemistry Trinity College Dublin Her research explores extracellular vesicle-mediated communication in cancer progression, cyclophilin A's role in mitotic exit, and preclinical biotherapeutic development. Current collaborations with Vejle Hospital Denmark and Mater Hospital Dublin investigate EV-based liquid biopsies for therapy response prediction. Notably, she co-authored the foundational MISEV2023 guidelines for extracellular vesicle research. Scientific contributions include: Wellcome Trust ISSF Mid Career Fellow (2017) Conway Institute Fellow (2007) IRCSET Fellowship (2003) She leads the EU Twinflag consortium for EV-based biomarker development in joint disorders and chairs the SBBS Research, Innovation and Impact Committee (2020-2024). Her lab has trained numerous researchers who now hold prominent positions in academia and industry.

Chris F Inglehearnمشاهده پروفایل

استاد

• Human genetics
• Inherited blindness
• Retinal dystrophies
• +۶ مورد دیگر

Professor Chris F Inglehearn is Professor of Molecular Ophthalmology at the University of Leeds, Faculty of Medicine and Health, where he heads the Division of Molecular Medicine. He established the Leeds Vision Research Group and leads cross-disciplinary programmes on inherited blindness, dental genetics and psychosis. Education: BSc Biological Sciences (2:1 Hons), University of Edinburgh, 1984 PhD Molecular Genetics, University of Edinburgh, 1988 Research interests span genomic dissection of inherited retinal dystrophies, amelogenesis imperfecta and neurodevelopmental disorders. His laboratory deploys high-throughput sequencing, bioinformatics, genome editing and stem-cell models to identify disease genes, elucidate pathogenic mechanisms and develop diagnostic assays. Recent work has discovered novel ubiquitously expressed splicing-factor defects underlying tissue-specific retinal disease, identified over a dozen genes for amelogenesis imperfecta, and created the first UK NHS diagnostic service for this condition. International collaborations include coordination of the EU EyeTN training network and leadership roles in the UK Retinal Disease Consortium and Genomics England Clinical Interpretation Partnership. Selected professional service: Chair, Management Group, European Retinal Disease Consortium (2018-2021) Member, Genomics England GeCIP Hearing & Sight Domain Chair, Candlelighters Science Advisory Board (2003-2010) Wellcome Trust Molecular & Cellular Neuroscience Panel (2004-2008) He has supervised 30 PhD students to completion, delivered undergraduate and MSc teaching on human inherited disease, and published >213 peer-reviewed articles.

Janne Ravanttiمشاهده پروفایل

مدرس

• Bioinformatics
• Structural Bioinformatics
• NGS Analysis
• +۲ مورد دیگر

Janne Ravantti is a University Lecturer at the University of Helsinki, affiliated with the Molecular and Integrative Biosciences Research Program and the Doctoral Programme in Integrative Life Science. His research focuses on bioinformatics, structural bioinformatics, NGS analysis, computational methods for Cryo-EM, and BioPython. He has contributed to collaborations in structural biology, virology, and cancer research. Department: Molecular and Integrative Biosciences Research Program Supervision: Co-supervisor for PhD theses and member of thesis committees Collaborations: Center of Excellence in Virus Research (CoE_VIRRES), Okinawa Institute of Science and Technology (OIST) Ravantti's recent publications examine topics such as giant virus characterization, cancer risk factors, and RNA processing mechanisms. He has co-authored studies on colorectal cancer, viral structural analysis, and epidemiological modeling of disease incidence. His activities include participation in academic conferences, peer review for journals, and collaborative projects with international researchers. He has also served as a preliminary reviewer and committee member for doctoral dissertations.