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Anil KumarView profile

Assistant Professor

• Molecular Virology
• Virus-host Interactions
• Innate Immune Response
• +3 more

Dr. Anil Kumar is an Assistant Professor in the Department of Biochemistry, Microbiology & Immunology at the University of Saskatchewan's College of Medicine. He specializes in molecular virology, focusing on positive-stranded RNA viruses and their interactions with host immune systems. His research employs high-throughput genetic screens and reverse genetics systems to identify host factors critical for viral infection. Education includes a BSc in Agricultural Sciences (1999, Kerala Agricultural University), MSc in Plant Pathology (2001, Indian Agricultural Research Institute), and PhD in Molecular Virology (2010, University of Heidelberg). Postdoctoral training included stints at the University of Heidelberg (2010–2013) and the University of Alberta (2014–2020). Research interests center on Eastern Equine Encephalitis virus (EEEV) and Enterovirus D68 (EV-D68). For EEEV, his lab investigates immune evasion mechanisms and host-virus protein interactions to identify therapeutic targets. For EV-D68, they study CNS invasion mechanisms and novel host dependency factors linked to acute flaccid myelitis (AFM). Recent work includes studies on SARS-CoV-2, uncovering roles for host proteins like Argonaute 2 in viral restriction. His lab integrates molecular biology, virology, and systems biology approaches, with a focus on translational research for antiviral drug development. Collaborations include work on respiratory syncytial virus (RSV) entry mechanisms and dengue virus replication regulation.

Cynthia C. LordView profile

Associate Professor

• Vector-borne diseases
• Medical entomology
• Population modeling
• +6 more

Cynthia C. Lord is an Associate Professor specializing in population modeling at the University of Florida's Institute of Food and Agricultural Sciences (UF/IFAS), specifically at the Florida Medical Entomology Laboratory (FMEL) in Vero Beach, Florida. Her academic appointment is within the Entomology and Nematology Department, where she contributes to research on vector-borne diseases and pathogen transmission dynamics. Dr. Lord's research focuses on medical entomology with particular expertise in vector-borne diseases transmitted by ticks and mosquitoes. Her work encompasses population modeling of disease vectors, analysis of transmission dynamics for pathogens including Rickettsia, Ehrlichia, Anaplasma, and Zika virus, and investigation of vector-pathogen-host relationships. Her research has significant implications for public health interventions and vector control strategies. Her recent publications demonstrate expertise in analyzing the epidemiology and transmission patterns of vector-borne diseases. Her work on Rickettsia pathogens provides comprehensive information on disease-causing species in the United States, while her research on Zika virus examines the emergence and spread of this mosquito-borne pathogen in the Americas. Her publications serve as valuable resources for vector control agencies, public health officials, and medical professionals. Dr. Lord's research has contributed to understanding the distribution and transmission of vector-borne diseases in Florida and throughout the United States, with particular attention to the ecological and epidemiological factors that influence disease emergence and spread.

Debra Lynn SilverView profile

Professor

• Developmental Neurobiology
• RNA Biology
• Cortical Evolution
• +6 more

Debra Lynn Silver is a Professor at Duke University in the Departments of Molecular Genetics and Microbiology, Cell Biology, and Neurobiology. She is affiliated with the Duke Regeneration Center, Duke Initiative for Science & Society, Duke Cancer Institute, and Duke Institute for Brain Sciences. Education: Ph.D., Johns Hopkins University (2003) Postdoctoral Fellowship, National Institutes of Health (2003-2010) B.S., Tufts University (1993) Her research focuses on developmental neurobiology , RNA biology , and human cortical evolution , exploring genetic mechanisms in neurodevelopmental disorders and brain evolution. Recent studies investigate DDX3X mutations in autism, EIF4A3 in neurogenesis, and human-specific enhancers regulating cortical development. Publications highlight her work on mRNA stability, RNA-binding proteins, and species-specific neurodevelopmental features. Grants include NIH funding for DDX3X pathology and cortical RNA localization studies (2018-present).

Anthony AntonellisView profile

Professor

• Transcriptional Regulation
• Genetic and Molecular Mechanisms of Mendelian Disease
• Aminoacyl-tRNA Synthetase Mutations
• +3 more

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

Andrew JacksonView profile

Professor

• Microcephaly
• Cancer
• Autoinflammation
• +5 more

Professor Andrew Jackson FRS is a Programme Leader at the MRC Human Genetics Unit within the Institute of Genetics and Cancer at the University of Edinburgh. He serves as Group Leader for the Microcephaly, Cancer and Autoinflammation research program and holds an honorary consultant position in Clinical Genetics. Elected as a Fellow of the Royal Society in 2020, he has also been recognized as a Fellow of the Royal Society of Edinburgh and Academy of Medical Sciences (2014) and Member of EMBO (2013). His research program focuses on identifying genes causing inherited disorders of the brain, with particular emphasis on microcephaly, Aicardi-Goutieres syndrome, and connections between genome stability, inflammation, and cancer. The Jackson lab has discovered over 20 human disease genes involved in fundamental cellular processes related to growth and inflammation. His work bridges clinical genetics with basic molecular mechanisms, exploring how faults in nucleases mimic viral infection of the brain and how ribonucleotides in DNA can cause genome damage relevant to cancer. Analysis of his recent publications reveals a strong focus on genome instability mechanisms, with particular attention to how these processes relate to both rare genetic disorders and common diseases. His work integrates human genetics with cellular and molecular approaches, often using model organisms to understand disease mechanisms. Fellow of the Royal Society (2020) Fellow of the Royal Society of Edinburgh (2014) Fellow of the Academy of Medical Sciences (2014) Member of EMBO (2013) Professor Jackson leads an active research group with multiple postdoctoral researchers, technicians, and PhD students. His work is supported by major funders including the Medical Research Council, European Research Council, and EMBO. His research has significant translational potential, particularly in understanding the genetic basis of developmental disorders and identifying mechanisms relevant to cancer therapies. The Jackson lab maintains strong collaborations across the University of Edinburgh and with international partners in the US and Europe, focusing on genomic instability, DNA repair mechanisms, and developmental disorders.

Barry W. AltoView profile

Associate Professor

• Medical Entomology
• Arbovirology
• Mosquito Vector Biology
• +4 more

Barry W. Alto is an Associate Professor specializing in Medical Entomology and Arbovirology at the University of Florida's Institute of Food and Agricultural Sciences (UF/IFAS), based at the Florida Medical Entomology Laboratory (FMEL) in Vero Beach, Florida. His research focuses on medical entomology and arbovirology, with particular expertise in mosquito vector biology, mosquito-borne diseases, vector ecology, and biological control of mosquitoes. Dr. Alto's work has significant implications for public health, especially regarding the transmission and control of vector-borne diseases. His recent publications demonstrate expertise in arbovirus ecology and mosquito vector systems, with particular attention to invasive species like Anopheles stephensi and the ecology of arboviruses including Keystone virus. His research often examines the complex relationships between mosquito vectors, pathogens, and environmental factors that influence disease transmission. Among his scientific contributions are detailed studies on mosquito vectors of malaria, biological control using predatory mosquitoes like Toxorhynchites rutilus , and emerging arboviruses affecting the southeastern United States. Dr. Alto has mentored graduate students including Ph.D. candidate Abdullah A. Alomar, with whom he has co-authored multiple publications on mosquito vectors and arboviruses. His work contributes significantly to the understanding of vector-borne disease systems and potential control strategies.

• Medical Genetics
• Neurology
• Bioinformatics
• +4 more

Professor Ahmet Okay Çağlayan at Dokuz Eylül University's School of Medicine specializes in Medical Genetics with a focus on neurodevelopmental disorders. His work integrates next-generation sequencing and genomic approaches to unravel rare genetic variants in structural brain abnormalities. Established Medical Genetics Department Teaching at undergraduate, graduate, and medical school levels Active in editorial and peer-review roles for top-tier journals Research spans neurogenetics, molecular diagnostics, and genomic medicine with emphasis on: Whole-exome sequencing applications Homozygosity mapping Linkage analysis Neurodevelopmental disease mechanisms Cortical malformations Genotype-phenotype correlations Recent publications highlight advancements in: Identifying novel pathogenic variants (NAGLU, KLHL40, PIBF1) Elucidating mTOR pathway dysregulation in lissencephaly Characterizing rare metabolic and neurodegenerative syndromes Developing genomic diagnostic frameworks for Turkish populations Metrics indicate: 197 WoS publications H-index: 4250 (Scopus) 24 research projects

Olaf BodamerView profile

Associate Professor

• Clinical Genetics
• Biochemical Genetics
• Translational Medicine
• +12 more

Dr. Olaf Bodamer is Associate Chief for Genetics and Genomics at Boston Children's Hospital and faculty at Harvard Medical School. He leads a translational research laboratory focused on rare genetic disorders, including Kabuki syndrome and lysosomal storage diseases. He directs the Boston Children’s Lysosomal Storage Disease (BoLD) Program and the Roya Kabuki Program. MD, University of Heidelberg, Germany (1989) PhD, University of Saarland, Germany Pediatric Residency, Great Ormond Street Hospital, London Fellowship in Clinical and Biochemical Genetics, Baylor College of Medicine, USA Dr. Bodamer's research integrates systems biology and multi-omics to understand disease mechanisms and improve diagnostics. His work spans newborn screening, exome sequencing, metabolomics, and animal models. He focuses on phenotype expansion, biomarker discovery, and therapeutic development for rare diseases, particularly those affecting neurodevelopment and metabolism. His recent publications highlight trends in precision medicine, undiagnosed diseases, and genotype-phenotype correlations in Kabuki and lysosomal disorders. He has contributed significantly to clinical guidelines and diagnostic protocols for rare metabolic conditions. Member, Editorial Board: Molecular Genetics and Metabolism Scientific Advisor: All Things Kabuki, OAA Director, Medical Genetics Laboratories (former, University of Miami) Dr. Bodamer mentors junior researchers and collaborates across clinical specialties. His work is supported by institutional and collaborative grants, focusing on translational applications in pediatric genetics. He has played a key role in establishing rapid diagnostic pipelines for critically ill neonates and advancing newborn screening for lysosomal disorders. He leads research teams in the Intellectual and Developmental Disabilities Research Center and the Manton Center for Orphan Disease Research, fostering interdisciplinary collaboration in rare disease research.

Dean FalkView profile

Professor

• Biological Anthropology
• Paleoneurology
• Hominin Evolution
• +3 more

Dean Falk is the Hale G. Smith Professor of Anthropology and Distinguished Research Professor at Florida State University's Department of Anthropology. Her research focuses on paleoneurology, hominin evolution, and the origins of language/music. She earned her Ph.D. in Anthropology from the University of Michigan (1976) and has contributed significantly to understanding brain evolution through fossil endocasts. Notable work includes challenging microcephaly claims about the 'Hobbit' species Homo floresiensis , analyzing Albert Einstein's brain, and exploring the role of motherese in language origins. Falk has published extensively and lectures globally. Her recent projects include collaborating on Hans Asperger's historical letters and advancing studies on bipedalism's impact on fetal development. Her research interests span biological anthropology, fossil hominins, and the evolutionary links between cognition and creativity. She has been featured in Discover magazine and media worldwide, though she is currently not actively recruiting students. Upcoming talks include a 2025 lecture series in Austria and collaborative work on translating Asperger's correspondence.

• Human Genetics
• Neurogenetics
• Autism Spectrum Disorders
• +4 more

Dr. Hande Kaymakcalan is an Assistant Professor in the Department of Neurosurgery at Yale School of Medicine. She holds an MD from Marmara University School of Medicine (1999) and completed her residency at Cook County Hospital (2003) and Yale University (2009). Her research focuses on the intersection of human genetics and neurodevelopmental disorders, particularly PTEN Hamartoma Tumor Syndrome (PHTS) in pediatric patients, the creation of Turkish PHTS patient registry, genetics of overgrowth disorders with intellectual disability, congenital heart disease, and autism spectrum disorders. Her work bridges clinical neurology with genetic research, emphasizing population-specific studies in Turkish cohorts. Analysis of Dr. Kaymakcalan's publication record reveals a strong emphasis on genetic mechanisms underlying neurodevelopmental disorders, with particular focus on mTOR signaling pathways, cortical neuronal migration defects, and genotype-phenotype correlations in rare genetic syndromes. Her research demonstrates consistent collaboration with leading geneticists and neuroscientists, with publications appearing in high-impact journals including Nature and Nature Genetics. Dr. Kaymakcalan maintains active collaborations with researchers including Kaya Bilguvar, Katsuhito Yasuno, Murat Günel, Adife Gulhan Ercan-Sencicek, and Zeynep Erson Omay, with whom she has co-authored numerous publications. Her work has contributed significantly to understanding the genetic basis of neurodevelopmental conditions, particularly in Turkish populations. Her laboratory work centers on genetic analysis of neurodevelopmental disorders, with emphasis on creating population-specific registries and identifying novel genetic variants associated with complex phenotypes. Current research directions appear to be expanding into the molecular mechanisms of neuronal migration disorders and their relationship to mTOR signaling pathways.

• Genetics
• Neurodevelopmental Disorders
• Human Genetics
• +3 more

Maha S. Zaki is a prominent researcher affiliated with the Clinical Genetics Department at University College London , with a career spanning prestigious institutions such as the National Research Centre in Egypt, Cairo University Hospitals, and the Armed Forces College of Medicine. Her work focuses on the genetic basis of neurodevelopmental and mitochondrial disorders. Human Genetics and Genome Research Institute (Egypt) UCL Queen Square Institute of Neurology National Institute of Neuromotor System, Giza Her research explores genetic variants contributing to conditions like Leigh syndrome , Aicardi-Goutières syndrome , and congenital heart defects , often utilizing interdisciplinary approaches in neurogenetics and molecular biology. Recent publications highlight her expertise in biallelic gene variants and their phenotypic expression, with collaborations spanning Egypt, the UK, and the US. Funding from organizations like the NIH and Wellcome Trust underscores her global impact. Identified novel genetic associations in neurodevelopmental disorders Developed clinical insights for mitochondrial disease diagnostics Advanced understanding of ciliopathies and congenital syndromes Zaki’s work bridges clinical genetics and basic research , emphasizing translational applications for improved patient outcomes.

• Neuroscience
• Developmental Neurobiology
• Cortical Development
• +3 more

Setsuko Kodama is a Senior Lecturer in Developmental Neurobiology , focusing on cortical development, glial progenitors, and transcriptional regulation. Her research spans neuroscience and molecular biology, with collaborations bridging particle physics. Key Research Themes : Cortical progenitor differentiation, tubulin modifications in neurodevelopment, genetic regulation of cortical area scaling. Projects : Linking mechanisms generating protein and cortical cell diversity (Leverhulme Trust, 2023–2026) Role of distinct cortical progenitor subtypes (BBSRC, 2023–2026) Zika virus-induced microcephaly (2016–2017) Molecular control of cortical progenitors (BBSRC, 2014–2018) Publications : 9 research outputs including studies on Tuba8's role in glial differentiation, Foxg1-Cre mouse models, and neutrino oscillations via the T2K Collaboration. Collaborations : Active in interdisciplinary research with contributions to particle physics (T2K) and neuroscience.

Ginny G. FaríasView profile

Professor

• Neuronal organelle dynamics
• Endoplasmic reticulum organization
• Neuronal polarity
• +3 more

Dr. Ginny G. Farías is an independent group leader and faculty member at Utrecht University , Faculty of Science, within the Department of Biology, Division of Cell Biology . She heads the Neuronal Organelle Dynamics group, focusing on how sub-cellular organization of organelles underpins neuronal development and function. Education & Training: BSc in Biology – Pontifical Catholic University of Chile PhD in Cellular and Molecular Biology – Pontifical Catholic University of Chile (2009) Post-doctoral fellowship – National Institutes of Health (NIH), USA, with Dr. Juan S. Bonifacino (2010-2016) Research Focus: Dr. Farías combines advanced live-cell imaging, genetic engineering and biochemical approaches to dissect how the endoplasmic reticulum (ER) and other organelles are positioned and communicate within neurons. Her lab investigates ER tubule and cisternae organization, membrane contact sites, polarized protein trafficking, local mRNA translation and the impact of organelle disorganization on neurological disease. Funding & Recognition: She has secured highly competitive grants including an NWO-VIDI (2018) and an ERC Starting Grant (2020) . In 2024 she was featured as a Cell Scientist to Watch by Journal of Cell Science. Laboratory & Team: The group currently comprises 7 PhD students, 2 post-doctoral researchers and 1 master student, all working at the intersection of cell biology, neurobiology and biophysics.

Ali MirazimiView profile

Adjunct Professor

• Viral Hemorrhagic Fevers
• SARS-CoV-2 Research
• Molecular Pathogenesis
• +5 more

Dr. Ali Mirazimi is an Adjunct Professor at the Department of Laboratory Medicine, Karolinska Institute. His research focuses on molecular pathogenesis of viral hemorrhagic fevers (CCHFV, Ebola) and SARS-CoV-2, including vaccine development, antiviral therapies, and diagnostic tools. Coordinated CCHFVaccine consortium for developing vaccines Leading IMI/H2020 projects on SARS-CoV-2 Established 3D organoid infection models His lab investigates virus-host interactions across human, animal, and tick cells, with recent publications in Nature Communications , Cell , and Nature Microbiology . Key topics include: RNA virus dependencies on host factors Mechanisms of vascular leakage in VHF Programmed cell death during infections Biosafe diagnostic systems for outbreak settings Collaborations include: Prof. Friedemann Weber (Germany) Prof. Josef Penninger (Austria) Prof. Thomas Helleday (Sweden) NIH/NIAID partnerships

David AntonettiView profile

Professor

• Diabetic Retinopathy
• Stroke
• Blood-Retinal Barrier
• +5 more

David Antonetti, Ph.D., serves as Professor and Scientific Director at the University of Michigan's Kellogg Eye Center within the Department of Ophthalmology and Visual Sciences. His laboratory actively accepts new students and maintains dual appointments in Molecular & Integrative Physiology. Antonetti directs research focused on vascular barrier mechanisms with significant implications for diabetic complications and stroke. His research centers on the tight junction complex in blood-retinal and blood-brain barriers, investigating how diabetes and stroke compromise vascular integrity. Antonetti's lab pioneered the discovery that occludin phosphorylation regulates barrier properties, demonstrating that transgenic mice expressing phosphorylation-resistant occludin mutants preserve retinal vascular function during diabetes. Current work explores Norrin cytokine therapy for barrier restoration and occludin phosphorylation targeting for stroke treatment using biochemical, cell biological, and transgenic approaches. Award highlights include the Jules Francois Prize (2004), Hinkle Society Translational Research Award (2007), and Roger W. Kittendorf Research Professorship (2019). His publication trends reveal sustained focus on vascular permeability mechanisms, with recent emphasis on Norrin signaling, disheveled-claudin interactions, and therapeutic repurposing for diabetic retinopathy and stroke. Jules Francois Prize for Young Investigator in Ophthalmology (2004) Hinkle Society Mid-Career Translational Research Award (2007) Most Inspirational Teacher Award (2009) Jules and Doris Stein Professorship (2011) Roger W. Kittendorf Research Professorship (2019) Antonetti leads collaborative research with Dr. Dan Lawrence on blood-brain barrier mechanisms in stroke, and directs multiple institutional resources including the Michigan Research Experts Profile. His laboratory develops transgenic models and molecular techniques to translate barrier biology discoveries into novel therapeutics, with recent work focusing on controlled antibody delivery systems and repurposed drugs for vascular protection. The Antonetti lab operates within the Kellogg Eye Center's research infrastructure, utilizing advanced techniques including mass spectrometry, mutational analysis in endothelial cell culture, transgenic mouse modeling, and optical coherence tomography. Current projects investigate neurovascular unit interactions, occludin-dynein mechanics, and Norrin-based therapeutics for diabetic retinopathy, with strong translational emphasis on vision preservation.