جستجوی استاد راهنمای دانشگاهی

Andrew Jacksonمشاهده پروفایل

استاد

• Microcephaly
• Cancer
• Autoinflammation
• +۵ مورد دیگر

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.

Hsiao-Tuan Chaoمشاهده پروفایل

استادیار

• Neurodevelopmental disorders
• Autism spectrum disorders
• Epilepsy genetics
• +۷ مورد دیگر

Dr. Hsiao-Tuan Chao is an Assistant Professor at Baylor College of Medicine with primary appointments in the Department of Pediatrics (Division of Neurology and Developmental Neuroscience), Department of Molecular and Human Genetics, and Department of Neuroscience. She serves as an Investigator at the Jan and Dan Duncan Neurological Research Institute and Texas Children's Hospital, and is a McNair Scholar at the McNair Medical Institute. Dr. Chao also holds leadership roles as Associate Program Director for the Basic Neuroscience Pathway in the Child Neurology Residency Training Program and as a Faculty Senator at Baylor College of Medicine. Dr. Chao's educational background includes: MD from Baylor College of Medicine (2012) PhD in Neuroscience from Baylor College of Medicine (2010) BS in Neuroscience and BA in Biochemistry (summa cum laude) from University of Texas at Austin (2002) Plan II Honors in Liberal Arts (summa cum laude) from University of Texas at Austin (2002) Her research focuses on understanding the genetic and neurophysiologic underpinnings of neurodevelopmental disorders including intellectual disability, epilepsy, autism, and schizophrenia. A central theme in her work is examining how disrupted inhibitory neuronal development and function contribute to these conditions. The Chao Lab integrates cross-species approaches using human genomics to uncover genetic etiologies, fruit flies to elucidate molecular pathways, and mice to explore consequences in the mammalian brain. Key research areas include EBF3-related disorders (HADDS syndrome), STXBP1 encephalopathy, EIF2AK variants (LEUDEN and LEMPSAD syndromes), and PPFIA3-related neurodevelopmental disorders. Analysis of Dr. Chao's recent publications reveals a strong focus on identifying novel disease genes and characterizing genotype-phenotype relationships in neurodevelopmental disorders. Her work spans multiple technical approaches including whole-genome sequencing, RNA sequencing, DNA methylation analysis, and functional validation using model organisms. A significant portion of her research examines how specific genetic variants impact protein function and neuronal development, with particular attention to transcriptional regulation, protein translation, and synaptic function. Dr. Chao has received numerous prestigious awards recognizing her contributions to neuroscience and neurology: 2022 "40 Under 40" List of Autism Researchers (Global Rising Stars in Autism Research) 2022 Young Investigator Award from Baylor College of Medicine Department of Pediatrics 2022 Induction to the Society for Pediatric Research 2020 Philip R. Dodge Young Investigator Award from the Child Neurology Society 2019 Health Care Heroes - Rising Star Award from Houston Business Journal 2017 STAT Wunderkind Award Dr. Chao actively mentors a large team of researchers including postdoctoral fellows, graduate students, medical students, and genetic counseling students. Her lab has secured significant funding including an NIH R01 grant (Molecular and Cellular Mechanisms of Cerebellar Dysfunction in Neurodevelopmental disorders), a DP5 Early Independence Award from NIH, and funding from the Burroughs Wellcome Fund. Current research initiatives include the Undiagnosed Epilepsy Genetics Initiative, EBF3-related disorders research study, and a Phase 1/2a clinical trial of CAP-002 Gene Therapy for STXBP1 Encephalopathy. The Chao Lab operates within the Jan and Dan Duncan Neurological Research Institute, leveraging multiple core facilities including the Microscopy Core, Rodent Neurobehavior Core, High Throughput Behavioral Screening Core, and Optogenetics and Viral Vectors Core. Her team collaborates extensively with the Undiagnosed Diseases Network and maintains active partnerships with clinicians at Texas Children's Hospital to translate research findings into clinical applications.

Dara Brodskyمشاهده پروفایل

استادیار

• Neonatology
• Medical Education
• Neonatal Intensive Care
• +۷ مورد دیگر

Dara Brodsky, MD, is an Assistant Professor in Pediatrics at Harvard Medical School and a neonatologist at Beth Israel Deaconess Medical Center (BIDMC), where she also serves as Associate Director of the Neonatal Intensive Care Unit. She is actively involved in the Harvard Neonatology Fellowship Program and holds leadership roles in medical education. Associate Director, NICU, Beth Israel Deaconess Medical Center Assistant Professor, Department of Pediatrics, Harvard Medical School Co-Director, Newborn Medicine Summer Student Research Program Chair, Neonatology Curriculum Committee, Harvard Neonatology Fellowship Member, Academy at Harvard Medical School Her research and academic work focus on medical education , neonatal care , and educational evaluation tools . She has contributed significantly to curriculum development, faculty assessment, and the creation of foundational educational resources such as the Neonatology Review series and Primary Care of the Premature Infant . Her interests extend to clinical ethics, genomics, and the integration of artificial intelligence in neonatal medicine. Dr. Brodsky's recent publications reflect a growing emphasis on AI in medical education , particularly the performance of large language models on neonatal board exams. Other key themes include fetal physiology , end-of-life care in the NICU , team collaboration , and innovative teaching methodologies . Her work bridges clinical practice with educational innovation. Scientific Awards: Senior Resident Teacher of the Year Award, Columbia-Presbyterian Medical Center 2010 Merton Bernfield Teaching Award in Neonatology Dr. Brodsky has advised numerous trainees through her educational programs and has led curriculum development initiatives supported by institutional and academic grants. She co-directs a summer research program for students in newborn medicine and has developed web-based educational tools for resident training. Her leadership in the Academy at Harvard Medical School underscores her commitment to educational excellence. She is actively involved in the editorial work for NeoReviews , an American Academy of Pediatrics-sponsored journal, and contributes to shaping the future of neonatology education through curriculum design and policy. Her work fosters interdisciplinary, family-centered care models in the NICU.

Yanjin Zhangمشاهده پروفایل

دانشیار

• Molecular Virology
• Virus-Cell Interactions
• Innate Immunity
• +۳ مورد دیگر

Dr. Yanjin Zhang serves as an Associate Professor in the School of Veterinary Medicine at the University of Maryland, College Park. His research focuses on molecular virology of RNA viruses including PRRSV, HEV, and Zika virus, with particular expertise in virus-host interactions and innate immune evasion mechanisms. Research Interests: Dr. Zhang investigates viral pathogenesis and mechanisms of viral interference with host innate immunity, especially interferon induction and JAK-STAT signaling pathways. His laboratory discovered that PRRSV inhibits STAT1/2/3 signaling and that HEV ORF1 blocks interferon induction while ORF3 activates RIG-I signaling. Current projects center on vaccine development against PRRSV using a novel interferon-inducing strain that enhances neutralizing antibody responses. Publication Trends: Analysis of 12 recent publications (2009-2023) reveals consistent focus on viral antagonism of host defense systems. Key themes include viral protein-induced degradation of host factors (e.g., KPNA2 by Zika NS2A), disruption of interferon signaling cascades, and karyopherin-mediated nuclear transport mechanisms. Primary subfields span neurovirology (Zika), porcine virology (PRRSV), and zoonotic hepatitis (HEV). Laboratory: Dr. Zhang directs a research team investigating molecular mechanisms of virus-host interactions with direct applications in antiviral therapeutic and vaccine development against economically significant viral pathogens.

• DNA damage response
• Genome maintenance
• Cancer biology
• +۵ مورد دیگر

Thorkell Gudjónsson is an Assistant Professor at the Biotech Research & Innovation Centre (BRIC) at the University of Copenhagen, where he leads research within the Sørensen Group. His work primarily focuses on genome stability mechanisms and their implications in cancer development. Dr. Gudjónsson's research interests center on DNA damage response pathways, chromatin biology, and molecular mechanisms underlying cancer development. His work bridges basic molecular biology with translational cancer research, particularly in breast cancer and other malignancies. He investigates how genome maintenance pathways function under normal conditions and how their dysregulation contributes to carcinogenesis. Analysis of his publication record reveals a consistent focus on DNA repair mechanisms and their relationship to cancer. His most recent work (2024-2025) has centered on tumor suppressors in breast cancer, replication stress disorders, and cytoskeletal proteins that maintain genome integrity. Earlier work established foundational knowledge about chromatin modifications during DNA damage response, with highly cited papers in Cell and Molecular Cell. His research has generated significant scientific impact, with several papers accumulating hundreds of citations, particularly his 2012 Cell paper on TRIP12 and UBR5 which has received over 300 citations. His work appears in high-impact journals including Cell, Nature Communications, and The Journal of Clinical Investigation. As a principal investigator within the Sørensen Group at BRIC, Dr. Gudjónsson collaborates extensively with researchers across multiple institutions, with particular strength in interdisciplinary cancer research combining molecular biology, genetics, and clinical medicine. His laboratory employs advanced techniques in molecular and cellular biology to investigate fundamental mechanisms of genome maintenance.

• Human Genetics
• Congenital Heart Disease
• Autism Spectrum Disorders
• +۳ مورد دیگر

Dr. Hande Kaymakcalan Celebiler is an Assistant Professor of Neurosurgery at Yale School of Medicine with an adjunct appointment. Her work focuses on genetic etiologies of neurodevelopmental and congenital disorders, particularly in Turkish populations. She has conducted groundbreaking studies on mTOR signaling in lissencephaly, PTEN mutations in autism, and congenital heart disease genetics. Education: Marmara University School of Medicine (MD, 1999) Residencies: Cook County Hospital (2003), Yale University (2009) Her research explores genetic mechanisms behind autism spectrum disorders, congenital heart defects, and intellectual disabilities. Recent work identifies mTOR pathway dysregulation in cortical development disorders and expands understanding of Li-Campeau syndrome. Dr. Celebiler collaborates extensively with genomic researchers, publishing in Nature , Neurology , and Molecular Genetics & Genomic Medicine .

Christopher Wilkinsonمشاهده پروفایل

مدرس

• Centrosome biology
• Ciliogenesis
• Zebrafish embryonic development
• +۳ مورد دیگر

Christopher Wilkinson is a Lecturer in Biomedical Sciences at Royal Holloway, University of London, affiliated with the Department of Biological Sciences and the Centre for Biomedical Sciences. His research focuses on centrosomes and cilia in early vertebrate development using zebrafish embryos and cell lines. UN Sustainable Development Goals contributions: Human health, disease mechanisms Techniques: Confocal microscopy, time-lapse imaging, molecular biology His work investigates how mutations in centrosome/cilium proteins link to inherited diseases like Bardet-Biedl syndrome, primary microcephaly, and dwarfism. Recent studies include aggresome effects on centrosomes (linked to Parkinson's disease), centrosome overduplication in melanoma, and otolith formation mechanisms. His publications address ciliogenesis inhibition in neurodegenerative diseases, centrosome regulation in cancer, and biomineralization processes. Research spans cell biology, developmental genetics, and disease modeling. Projects were funded by Parkinson's UK, Royal Society, and University of London Central Research Fund, focusing on centrosome function, cilia control, and antibody costs for protein studies.

Mark Van Breugelمشاهده پروفایل

مدرس ارشد

• Cell Biology
• Biochemistry
• Structural Biology
• +۳ مورد دیگر

Dr. Mark Van Breugel is a Senior Lecturer in Biochemistry at Queen Mary University of London, affiliated with the School of Biological and Behavioural Sciences and the Centre for Molecular Cell Biology. His research focuses on centriole biology, centrosomes, primary cilia, and their roles in cell division and disease. He employs structural biology, biochemistry, and cell biological approaches to study centriole assembly, ciliogenesis, and their links to cancer and ciliopathies. Dr. Van Breugel teaches modules including 'Essential Skills for Biochemists,' 'Molecular Basis of Disease,' and 'AI and Data Science in Biology.' His lab investigates how centriole components assemble, their roles in disease, and the structural basis of ciliary dysfunction. Recent work includes studies on Spd-2/CEP192 domains, centrosome proteomics, and AlphaFold2 validation. His research has been funded by grants such as the BBSRC award on cilia membrane remodelling. Past supervisees include PhD student Deepak Barnabas and MSc student Hannah Tomkinson. The lab collaborates with other institutions and utilizes advanced techniques like X-ray crystallography and electron microscopy. Dr. Van Breugel’s group currently includes Post-doc Dr. Ifeanyi Enekwa and has engaged in collaborative projects on ciliopathies and cancer mechanisms. His work bridges structural insights with cellular function, contributing to understanding fundamental biological processes and their clinical implications.

• Human Genetics
• Rare Genetic Disorders
• CHARGE Syndrome
• +۴ مورد دیگر

Nicole Corsten-Janssen is an active researcher in human genetics at the University Medical Center of the University of Groningen, specializing in rare genetic disorders, particularly CHARGE syndrome and chromosomal abnormalities. Her research focuses on the genetic basis of congenital malformations, prenatal diagnostics, and clinical applications of genomic technologies. Her primary research interests include CHD7-related disorders, exome sequencing applications, congenital heart defects, and the phenotypic spectrum of chromosomal deletions. She has developed expertise in using social media to build rare disease cohorts, as demonstrated in her work on terminal 6q deletions. Her research bridges clinical genetics with basic science, contributing to improved diagnosis and understanding of rare genetic conditions. Analysis of her recent publications reveals a strong focus on translating genetic findings into clinical applications, with particular attention to diagnostic approaches for rare disorders and decision support tools for genetic counseling. Her work on NADSYN1 deficiency and XRCC4-related disorders demonstrates her contribution to expanding the phenotypic knowledge of newly recognized genetic conditions. Her research has received significant attention, with several publications picked up by news outlets and shared across social media platforms. The 2023 paper on terminal 6q deletions was particularly notable, being referenced by multiple news outlets and shared across various social media channels. Dr. Corsten-Janssen actively collaborates with international researchers across multiple institutions, contributing to large-scale studies of rare genetic conditions. Her work supports several UN Sustainable Development Goals through advancing medical knowledge and improving healthcare for individuals with rare genetic disorders.

Carlos A Bacinoمشاهده پروفایل

استاد

• Clinical Genetics
• Genomic Disorders
• Imprinting Disorders
• +۵ مورد دیگر

Carlos A Bacino, M.D., is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine . He holds key clinical leadership roles, including Vice Chair of Clinical Affairs and Chief of Genetics Service at Texas Children's Hospital, and Medical Director of the Cytogenetics Laboratory at Baylor Genetics. His work focuses on clinical genetics, genomic disorders, and pediatric rare disease diagnosis. Education: M.D. from the Faculty of Medical Sciences, University of Buenos Aires (1981) Certifications: Clinical Genetics, Cytogenetics, and Molecular Genetics from the American Board of Medical Genetics Dr. Bacino specializes in imprinting disorders (e.g., Angelman Syndrome), skeletal dysplasias , and genomic disorders . His research includes clinical trials for Angelman Syndrome (e.g., antisense oligonucleotides) and studies on achondroplasia therapies (e.g., vosoritide). He co-leads the Undiagnosed Disease Network at Baylor with NIH funding. His publications span Mendelian disorders, chromosomal abnormalities, and skeletal dysplasias, reflecting collaborations with pharmaceutical companies and NIH grants. Key contributions include phase III trials for achondroplasia and mechanistic studies of imprinting and ciliopathy-related mutations. Professional Affiliations: Member of the American Society of Human Genetics, American College of Medical Genetics, Society for Pediatric Research, and Teratology Society

• Pediatric Neurology
• Autoimmune Encephalitis
• Epilepsy
• +۴ مورد دیگر

Professor Helene Verhelst is a prominent pediatric neurologist at Ghent University's Faculty of Medicine and Health Sciences, specializing in complex neuroinflammatory and neurodevelopmental disorders in children. With over 80 publications since 2000, her research spans autoimmune encephalitis, epilepsy syndromes, tuberous sclerosis complex, and movement disorders, often through large international collaborations like the TOSCA registry. Her primary research interests focus on pediatric autoimmune neurological disorders , particularly anti-NMDA receptor encephalitis and related conditions, where she has published seminal case studies and longitudinal outcome analyses. She also investigates epilepsy genetics (including SCN8A-related disorders) and neurodevelopmental aspects of tuberous sclerosis complex, with recent work exploring vestibular dysfunction in hypotonic children. Her methodology combines clinical phenomenology with emerging biomarkers like blood transcriptomics. Analysis of her 15 most recent publications reveals a strong emphasis on autoimmune mechanisms in childhood neurological disorders , with 9 of 15 articles (60%) directly addressing autoimmune encephalitis, neuroinflammation, or immune-mediated conditions. Her work increasingly incorporates multidisciplinary approaches , bridging neurology, immunology, and psychiatry to address complex presentations like psychiatric manifestations of neurological diseases. Her collaborative network includes over 30 frequent co-authors, notably Rudy Van Coster (31 joint publications), Patrick Verloo (11), and specialists in immunology and genetics. She contributes significantly to international consortia including the TOSCA registry for tuberous sclerosis and IPMSSG for pediatric multiple sclerosis. Professor Verhelst leads clinical investigations into novel diagnostic approaches and therapeutic alternatives, including natural products for ADHD and advanced monitoring for epilepsy. Her 2019 PhD thesis on neuroinflammatory disorders established the foundation for her current work on immune-mediated neurological conditions in children.

• Primary Immunodeficiency Disorders
• Inborn Errors of Immunity
• Pediatric Immunology
• +۳ مورد دیگر

Prof. Filomeen Haerynck is a leading academic at the University of Ghent (UGent), with a focus on Primary Immunodeficiency Disorders , Inborn Errors of Immunity , and Autoinflammatory Diseases . Her work bridges Genetics , Pediatric Immunology , and Translational Medicine . Her research includes chromosomal radiosensitivity , cytokine profiling in Fever of Unknown Origin (FUO/IUO) , and genetic validation of disorders like STAT3 GOF syndrome and ATRIP deficiency . She is a key figure in the HyperPed-COVID international registry and studies MIS-C in children. She collaborates extensively with co-authors such as Levi Hoste , Simon Tavernier , and Leslie Naesens , and her students include Evi Duthoo and Jana Neirinck . Her work addresses COVID-19 vaccination responses in immunocompromised populations and the role of type I interferons in viral susceptibility. Her affiliations and contributions are primarily centered at Ghent University, with a strong emphasis on European Society for Immunodeficiencies (ESID) initiatives and international multicenter studies .

• Cellular Imaging
• Mitosis
• Autosomal Recessive Primary Microcephaly (MCPH)
• +۹ مورد دیگر

Dr Jacquelyn Bond is a Senior Lecturer at the School of Medicine, University of Leeds, and leads the Microcephaly and Neurogenesis Research Group. She serves as Academic Lead for Imaging within the St James’s Campus Infrastructure Flow Cytometry and Imaging Facility. Her research focuses on neurogenesis, microcephaly, and high-content imaging technologies. Areas of Expertise: Cellular Imaging, Mitosis, Autosomal Recessive Primary Microcephaly (MCPH), BioScreening, ASPM Protein Research Highlights: Discovery of ASPM, CDK5RAP2, and CENPJ genes in MCPH; development of high-throughput imaging platforms for unbiased screening. Her work integrates neurogenetic studies with advanced imaging infrastructure, including the acquisition of a Nikon A1R confocal microscope and Perkin Elmer Operetta imager. She contributes to undergraduate medical education in genetics and mentors postgraduate researchers. Scientific awards include the Wellcome Trust Research Career Development Fellowship.

Raquel A. Oliveiraمشاهده پروفایل

دانشیار

• Cell biology
• Chromosomes
• Mitosis
• +۹ مورد دیگر

Raquel A. Oliveira is an Associate Professor at Católica Medical School and a Researcher at Católica Biomedical Research Centre (CBR), where she serves as head of the Chromosome Dynamics lab and vice-director. Her work focuses on chromosome biology and mitosis, with significant contributions to understanding how mitotic chromosomes are assembled and how their structure impacts DNA-related processes. Her educational background includes: Undergraduate studies in Biochemistry at the Faculdade de Ciências of the Universidade do Porto PhD in Experimental Biology and Biomedicine from CNC (University of Coimbra), completed at Instituto de Biologia Molecular e Celular (IBMC), University of Porto (2007) Postdoctoral work at the Department of Biochemistry, University of Oxford, UK Dr. Oliveira's research focuses on chromosome dynamics during cell division, particularly on how mitotic chromosomes are assembled and how their structure impacts transcription and other DNA processes. Her work has important implications for understanding mitotic fidelity, organism development, and human disease. She investigates key molecular players including cohesin, condensin, and various chromosome-associated proteins that regulate sister chromatid cohesion and chromosome segregation. Her recent publications demonstrate a strong focus on chromosome structure-function relationships, with particular attention to transcription regulation during mitosis, chromosome topology, and the implications of mitotic errors in stem cells and developmental disorders. Her work bridges fundamental chromosome biology with clinical implications for genetic disorders. Her scientific achievements include: ERC Starting Grant ERC Consolidator Grant EMBO Installation Grant Marie Curie Career Integration Grant EMBO membership (elected in 2022) Dr. Oliveira has secured approximately 4 million euros in competitive funding for her research. She leads the Chromosome Dynamics lab which investigates fundamental mechanisms of chromosome organization and function. Her research has significant implications for understanding genetic disorders related to chromosome segregation errors and has contributed to the scientific community's understanding of how chromosome structure impacts cellular function beyond mitosis.

Stephanie Bielasمشاهده پروفایل

دانشیار

• Neurogenetics
• neural development
• chromatin biology
• +۳ مورد دیگر

Stephanie Bielas serves as Associate Professor of Human Genetics and Pediatrics and Associate Chair for Research in the Department of Human Genetics at the University of Michigan Medical School. Her research program investigates neurogenetic mechanisms of neurodevelopmental disorders through chromatin biology and cell fate determination, utilizing mouse models and human brain organoids to study primary microcephaly and autism spectrum disorder. Key methodologies include functional analysis of high-confidence risk alleles and mammalian models of cortical neuron development. Scientific awards: None mentioned in source text. Dr. Bielas actively mentors graduate students and accepts new advisees for her neurogenetics research program, though specific grant funding details and current student names were not provided in the available information. The Bielas lab operates as a specialized research unit focused on modeling brain development disorders through innovative organoid technology and genetic analysis.