Autism Spectrum Disorders Pathogenesis Professors and Supervisors

Jiang Wuمشاهده پروفایل

دانشیار

University of Texas Southwestern Medical CenterUnited States

Jiang Wu, Ph.D. , is an Associate Professor in the Department of Physiology at UT Southwestern Medical Center and holds the Virginia Murchison Linthicum Scholar in Medical Research title. His research focuses on chromatin regulation in neural development, autism disorders, and pediatric brain cancer. Education: B.S. and M.S. in Genetics from Fudan University (1992, 1995); Ph.D. in Molecular Biology from the University of Texas at Austin (2001); Postdoctoral training at Stanford University (2008). His lab investigates two major projects: Project I examines chromatin remodeling of neuronal activity-induced genes in autistic disorders, while Project II explores epigenetic regulation of SHH signaling in cerebellar development and medulloblastoma. Recent work highlights the role of chromatin remodelers like Brg1 and PRC2 heterogeneity in tumor growth and synaptic plasticity. Publications reveal a focus on epigenetic mechanisms in cancer biology and neurodevelopmental disorders, particularly medulloblastoma and autism. Key themes include Hedgehog signaling, chromatin modifications, and transcriptional networks. Scientific Awards: Virginia Murchison Linthicum Scholar in Medical Research. The Jiang Wu Lab collaborates on interdisciplinary projects and actively recruits researchers and collaborators in chromatin biology and neurogenetics.

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Joseph Doughertyمشاهده پروفایل

استاد

Max Planck Institute for the Structure and Dynamics of MatterGermany

Joseph Dougherty is a Professor at Washington University in St. Louis, leading research on neurodevelopmental disorders through high-throughput genomic approaches. His team specializes in TRAP-seq, CLIP-seq, and behavioral analysis to investigate molecular mechanisms in autism and related conditions. Previously, he trained as a Howard Hughes Medical Institute Predoctoral Fellow at UCLA and conducted postdoctoral work with Nathaniel Heintz. Research focuses on transcriptional/translational regulation disruptions identified through human genetics, with emphasis on: Sex-biased gene expression in autism/Alzheimer's In vivo functional assessment of genetic variants Cell-type-specific genomic profiling Recent publications (2023-2024) demonstrate cross-disciplinary work in neurogenetics, molecular neuroscience, and disease mechanisms. Awards include: SFARI Pilot Award (2024): Autism gene expression platform SFARI Research Award (2018): Non-coding mutation analysis HHMI Predoctoral Fellowship His laboratory develops innovative genomic pipelines and collaborates on consortia like the SSC-ASC Whole-Genome Sequencing project.

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Lachlan Jollyمشاهده پروفایل

پژوهشگر ارشد

The University of AdelaideAustralia

Dr Lachlan Jolly serves as Head of the Neurobiology Research Group and First 1000 Days Fellow at the University of Adelaide, affiliated with the School of Biomedicine within the Faculty of Health and Medical Sciences. His research focuses on understanding the genetic, molecular, cellular, and developmental processes underlying brain development to provide targeted treatments for neurodevelopmental disorders (NDDs). Dr Jolly's research program centers on three major projects: (1) Nonsense Mediated mRNA Decay (NMD) pathways, where he discovered NMD factor mutations cause NDDs and is developing NMD-targeted therapies for nonsense mutation diseases; (2) Protein degradation mechanisms, where he investigates ubiquitin-dependent protein de-ubiquitination in brain development with over 20 years of expertise; and (3) Discovery of disease-causing splice variants using CRISPR dCas9 technology to study silent genes in patient-derived cells. His work addresses the challenge that neurodevelopmental disorders affect approximately 2% of the global population, with genetic mutations as the primary cause in developed countries. With around 1,000 genes and 10,000 variants implicated in NDDs, Dr Jolly's strategy targets 'points of convergence' between disorders of different genetic origins, particularly cellular degradation pathways including NMD and protein ubiquitylation. Dr Jolly's research has significant clinical implications, as nonsense mutations account for 13% of all genetic diseases, and haploinsufficiency affects approximately 3,000 genetic conditions. His NHMRC Ideas Grant (2021-24) and Sanfilippo Foundation funding (2021-2022) support the development of biomarkers, biosensors, and FDA-approved molecules to modify NMD pathways. His research outputs demonstrate a strong focus on translational science, with recent publications examining proteomic analysis of brain development, deubiquitinating enzymes in NDDs, and neural differentiation in genetic disorders. Dr Jolly has established global collaborations with clinicians and scientists and developed diagnostic tools for patients with neurodevelopmental conditions. As an active researcher with publications spanning from 2004 to 2025, Dr Jolly maintains dual office locations at the Adelaide Health and Medical Sciences building (Eighth Floor) and the Clarence Reiger Building at the Women's & Children's Hospital (Second Floor), reflecting his integration of basic science with clinical applications.

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Erica Teixeira Pratesمشاهده پروفایل

پژوهشگر

Oak Ridge National LaboratoryUnited States

Erica Teixeira Prates is a Computational Systems Biologist at Oak Ridge National Laboratory (ORNL), working within the Biological and Environmental Systems Science Directorate's Biosciences Division. She leads computational research in the Computational and Predictive Biology Group and Biocomputing and Information Section, focusing on integrating molecular dynamics simulations with multi-omics data to study protein structure-function relationships. Her research spans three major domains: Bioenergy (CBI projects on plant-microbe interfaces and cellulose biosynthesis) Plant-Microbe Interactions (modeling receptor-ligand pairing in Populus systems) Viral Pathogenesis (SARS-CoV-2 protease mechanisms and antiviral strategies) She develops computational protocols for proteome-wide modeling, virtual screening, and enhanced sampling techniques to bridge molecular biophysics with systems-level biological traits. Publication analysis reveals consistent focus on structural bioinformatics (47% of articles), with growing emphasis on AI-driven approaches since 2020. Her work connects quantum biology with CRISPR optimization, metabolite-GWAS networks in plants, and opioid addiction genetics through meta-multiomics integration. Professional contributions include key projects: Plant-Microbe Interfaces (PMI) initiative for bioenergy crops COVID-19 research on NEMO cleavage and bradykinin storms Development of explainable AI models for viral mutation tracking

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Roger B. Suttonمشاهده پروفایل

استاد

Texas Tech University Health Sciences CenterUnited States

Roger B. Sutton is a Professor in the Department of Cell Physiology and Molecular Biophysics at Texas Tech University Health Sciences Center's School of Medicine. His research focuses on the structural biology of membrane proteins, particularly C2 domains, using X-ray crystallography to investigate their roles in membrane fusion and repair processes. Dr. Sutton's primary research interests include: Structural analysis of C2 domains in synaptotagmin and dysferlin Mechanisms of membrane fusion and repair Molecular basis of muscular dystrophy related to dysferlin mutations Autoimmune disorders related to DNASE1L3 function Protein structure-function relationships in membrane-associated proteins His recent publications show a progression from structural studies of C2 domains toward understanding their roles in human disease, particularly muscular dystrophy and autoimmune disorders. This evolution demonstrates how his fundamental structural work has increasingly connected to clinically relevant questions. Dr. Sutton's notable research contributions include: Solving the crystal structure of human synaptotagmin C2 domains Determining the 2.0Å structure of dysferlin's C2A domain Elucidating the molecular basis of synaptotagmin-1 associated neurodevelopmental disorders Investigating the role of DNASE1L3 in autoimmune disease pathogenesis His lab operates as part of the Center for Membrane Research at Texas Tech, utilizing advanced structural biology techniques to investigate membrane protein function. Dr. Sutton maintains active collaborations across multiple disciplines, as evidenced by his diverse publication record spanning neuroscience, structural biology, immunology, and cell biology. His work continues to bridge fundamental structural insights with potential therapeutic applications for muscular dystrophy and autoimmune disorders.

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Anders Borgkvistمشاهده پروفایل

پژوهشگر

Karolinska InstitutetSweden

Dr. Anders Borgkvist is a Principal Researcher at the Department of Neuroscience, Karolinska Institutet, where he leads the Anders Borgkvist group . His research focuses on molecular and circuit-level mechanisms in neurodevelopmental and neurodegenerative disorders, with emphasis on dopamine signaling, synaptic plasticity, and basal ganglia pathophysiology. Research Interests: Dr. Borgkvist's work spans Parkinson's disease, autism spectrum disorders, and neuropharmacology. Key areas include: Dopamine-serotonin/acetylcholine cotransmission in striatonigral pathways Synaptic filtering and plasticity in motor sensitization mTOR/autophagy dysregulation in neurodevelopment KCC2-mediated GABAergic inhibition in Parkinsonian motor deficits Grants: Swedish Research Council (2025–2028): Targeting dysregulated basal ganglia output in Parkinson’s disease (investigating KCC2 enhancement as therapy). Swedish Research Council (2017–2020): Synaptic plasticity at dopamine synapses in motor cortex during motor learning . Swedish Research Council (2009–2011): Optical studies on synaptic mechanisms of learning and addiction . His lab utilizes cutting-edge techniques including in vivo fiber photometry, GCaMP imaging, and transgenic models to dissect neural circuit dysfunctions. Collaborations include international experts in neurochemistry and movement disorders.

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Pieter Leenenمشاهده پروفایل

دانشیار

Erasmus University RotterdamNetherlands

Pieter Leenen serves as Associate Professor of Immunology at Erasmus MC, with extensive research output comprising 183 publications and 10 supervised works. His academic profile is anchored in immunological research with significant contributions to macrophage biology and translational medicine. His research spans Macrophage Immunology (100% fingerprint relevance), Precursor Immunology (35%), Monoclonal Antibody development (30%), and Cell Line studies (21%). Key focus areas include Listeria monocytogenes interactions (19%), Phagocytosis mechanisms (17%), Dendritic Cell function (17%), and Differentiation Antigen research (16%). Current work examines macrophage polarization in angiogenesis, cancer metastasis through blood-brain barriers, and immunometabolic interactions in disease contexts. Recent publications demonstrate interdisciplinary reach across oncology, endocrinology, and psychiatry. Notable collaborations include the Lifelines cohort study on glucocorticoids and cardiovascular disease, and PharmLines initiative examining metabolic syndrome in autistic adults. His work shows significant engagement with clinical translation, evidenced by multiple peer-reviewed articles in high-impact journals with substantial Mendeley readership (up to 20 readers) and media coverage (3 news outlets). Supervision activities encompass 10 mentored projects, though specific student names aren't listed. Research impact is demonstrated through citations (up to 4 in Web of Science), open-access downloads (up to 36), and social media engagement across X, Facebook, and Bluesky platforms.

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