Women's Brain Foundation’s Post

"When we started looking at paediatric MS, I realised that it was really a unique opportunity to study environmental risk factors for the disease," said Emmanuelle Waubant, Professor of Neurology and Paediatrics at the University of California, San Francisco. MS is a complex and multifaceted neurological disorder with a spectrum of clinical manifestations and disease trajectories. While MS definitely has a genetic component, it is not a classic genetic disease. For this reason, a large amount of research has been done to also identify environmental factors that must also be involved. Listen to an insightful conversation bet. Prof. Waubant and host Brett Drummond of MStranslate as they explore the latest research findings on the genetic and environmental aspects of the disease and how they interact. 🎧 Listen here: Website: https://bit.ly/4dKOnX9 Apple: https://apple.co/3WKlvra Spotify: https://spoti.fi/3X1WMjl Don't miss future episodes, subscribe to the ECTRIMS Podcast! #MS #MSResearch #genetics #neurology

📅 Today, February 29, 2024 is #RareDiseaseDay At the HIH, researchers like Prof. Simone Mayer and Prof. Matthis Synofzik focus on different rare diseases: Pontocerebellar hypoplasia type 2 (#PCH2) is a very serious #neurodevelopmental disorder in children. It is caused by a single #DNA building block being swapped. The tiny #genetic change, which only occurs in about one in a million people, causes a disruption in the development of certain areas of the brain, which leads to significant limitations in psychomotor development. Most affected children die before they reach adolescence. Prof. Simone Mayer, head of the “#Molecular #Brain #Development” research group, and her team are researching #brain #organoids that are created from donated skin cells from children affected by #PCH2a. These tissue structures can grow in three dimensions outside the human body and mimic the #cellular architecture and certain functional aspects of brain areas. Brain organoids give researchers insights into early brain development and the development of neurological and psychiatric diseases. Prof. Matthis Synofzik, head of the “#Translational #Genomics of #Neurodegenerative Diseases” section at the HIH, is leading a very unique treatment at the Tübingen Hertie Center for Neurology: For the first time in Europe, a #gene-based therapy is being administered that has been specifically tailored to the individual #genetic defect of a 5-year-old child: 5-year-old Poyraz suffers from ataxia telangiectasia, a very rare and serious disease that causes a progressive loss of the ability to walk and stand. Together with an international research team, Synofzik is taking an innovative path. The scientists produced antisense oligonucleotides (ASO) in the test tube, short pieces of RNA. The researchers created them so that they can lie exactly over the mutated area in the patient's genome. This means that the cells can read the gene correctly again and the important protein is produced at normal levels. "This tailored, highly individualized approach is revolutionary in medicine," says Matthis Synofzik. #RareDiseaseDay2024 #BrainResearch #Gehirnerforschen Gemeinnützige Hertie-Stiftung

🔍 Discover how #SingleCellGenomics is reshaping our understanding of #Neurodevelopmental disorders. Join our webinar from Scale Biosciences to learn about new pathways for treating autism. 🧠💡#Neuroscience #Genomics #AutismResearch. Register now → https://buff.ly/3Hpqnur

🔊 Latest news!   🧠 Discovery of genetic variants that influence Alzheimer’s disease   Researchers at the Boston University School of Public Health (BUSPH) and The University of Texas Health Science Center at Houston (UTHealth) School of Public Health have identified 17 significant genetic variants associated with AD risk in five genomic regions. Click on the link in the comments to read more 👇   #Alzheimers #genomics #neuroscience 

Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia While RNA splicing variations influence complex traits, particularly in the brain, definitively linking them to disease has been challenging. Researchers developed SpliTWAS, a method integrating alternative splicing with genome-wide association studies. Applying SpliTWAS to schizophrenia datasets revealed splicing events in genes relevant to neuronal function and immune cell activation. SpliTWAS variants impacted RNA-binding protein sites, potentially disrupting splicing regulation. By extending fine-mapping to the exon level, the authors identified putative causal exons in VPS45 and APOPT1, highlighting SpliTWAS's ability to capture nuances missed by conventional methods. This study supports the substantial role of alternative splicing in shaping the genetic basis of disease and offers SpliTWAS as a valuable tool for future investigations. The article was published in AJHG: https://lnkd.in/e2F5U77f. #genetics #genomics #precisionmedicine #genomicmedcine #brain #neurons #immunity #neuroimmunology #neurology #psychiatry #schizophrenia #neuroscience #neurodegeneration #gwas #rna #splicing #biomarkers #therapeutics #biotechnology #clinicalresearch #innovation #research #science #sciencecommunication

Join PsychoGenics at Upcoming Industry Conferences in Boston! Next week, our team will be participating in two major conferences in Boston, presenting our latest research in neurodegenerative and rare diseases. 🧠 12th Alzheimer’s & Parkinson’s Drug Development Summit (April 24-25) Dive into the latest advancements in Alzheimer's and Parkinson's research. Don't miss the presentation by Christina Torturo, Senior Scientist at PsychoGenics, on alpha-synuclein mouse models. Also, explore our poster session on Alzheimer’s disease research featuring the rTg4510 mouse model. 🌍 World Orphan Drug Congress (April 23-25) Connect with Dr. Emer Leahy, our CEO, to discuss our innovative approaches in supporting rare disorder research. 📅 We’re eager to explore how our expertise can help advance your projects. Contact us at [email protected] to set up a meeting or learn more about our capabilities. #Neuroscience #DrugDevelopment #Alzheimers #Parkinsons #ADPDSummit #RareDiseases #OrphanDrugCongress #preclinicalresearch

A good read! A more holistic approach to understanding #diseasepathways cannot be emphasised enough. Thinking outside the box, considering different #biologicalsystems and their interplay supported by interdisciplinary teams and approaches is the key to progress - not only in neuroscience but in in most fields #biomedical research.

🧠🔬 Exciting Research Alert! Investigating the Genetic Link Between BMI and Neurological Diseases 🔬🧠 In a recent study published in Scientific Reports, researchers from China utilized Mendelian randomization (MR) to delve into the intricate genetic relationship between body mass index (BMI) and various neurological diseases. Key Findings: 🔍 BMI showed a genetic causal relationship with multiple sclerosis (MS) and ischemic stroke (IS), but not with Parkinson’s disease (PD), Alzheimer’s disease (AD), amyotrophic lateral sclerosis (ALS), and epilepsy (EP). 🔍 The study employed robust methodologies, including stringent criteria for MR studies, data from a large genome-wide association study (GWAS) dataset, and various analytical approaches to ensure reliability. Implications: 💡 These findings shed light on the complex interplay between BMI and neurological diseases, providing valuable insights for disease management and prevention strategies. 💡 Understanding the genetic links can inform personalized approaches to healthcare, potentially leading to more targeted interventions and improved outcomes for patients. #Neuroscience #Genetics #BMI #HealthResearch #ScientificDiscovery 🧬🧠

#Neuroimmunology | #γδTcells | Key Actors in #Neuropathophysiology 🧠 | Comprehensive OPEN ACCESS Review from Deniz Bulgur & Co. now breaking online at European Federation of Immunological Societies Journal #EJI 👏 | The neuroimmune axis has been the focus of many studies, with special emphasis on the interactions between the central nervous system and the different immune cell subsets. T cells are namely recognized to play a critical role due to their interaction with nerves, by secreting cytokines and neurotrophins, which regulate the development, function, and survival of neurons. In this context, γδ T cells are particularly relevant, as they colonize specific tissues, namely the meninges, and have a wide variety of complex functions that balance physiological systems. Notably, γδ T cells are not only key components for maintaining brain homeostasis but are also responsible for triggering or preventing inflammatory responses in various pathologies, including neurodegenerative diseases as well as neuropsychiatric and developmental disorders. Here*, the authors (julie ribot as corresponding) provide an overview of the current state of the art around γδ T cells in neuropathophysiology and delve into the molecular mechanisms behind it. Their aim is to shed light on γδ T cell functions in the central nervous system while highlighting upcoming challenges in the field and providing new clues for potential therapeutic strategies. *https://lnkd.in/e9A6_D3N Celentyx Ltd Professor Nicholas Barnes PhD, FBPhS Omar Qureshi Catherine Brady FIGURE | Interplay between γδ T cell activity and brain integrity at steady state | The authors propose a model in which specific intrinsic and environmental cues, namely TCR ligands, circadian rhythm-derived mediators, neurotransmitters, the diet, and microbiota composition can shape γδ T cell homeostasis in the meninges. They hypothesise that when such mechanisms are disrupted, brain physiology is compromised, leading to further pathological mechanisms and neurological disorders |

🔬 Exploring the Uncharted Intersection of Neurodegenerative Diseases, Microbiome, and Viral Origins: Seeking Your Insights In the dynamic field of neuroscience, particularly concerning neurodegenerative diseases, a critical aspect often remains underexplored: the intricate interplay between the microbiome, gut interactions, and potential viral origins of these conditions. Our traditional compartmentalized approach may be overlooking crucial factors. For instance, the role of alpha-synuclein, typically associated with neurodegenerative pathology, might actually serve as a protective agent encapsulating viruses, challenging our understanding of its pathogenic role. Recent data has brought to light the possibility of #Covid19 infecting dopaminergic neurons. This revelation raises a significant concern: could we see an uptick in Parkinsonism in the near future? Such a scenario underscores the need for a holistic perspective in tackling these multifactorial, non-genetically driven diseases. 🧩 The crux of the matter lies in this: without addressing the complex interrelations between these factors, finding significant correlates or advancing in treatment strategies remains an elusive goal. ✨ I invite my fellow experts and enthusiasts in neuroscience, microbiology, and virology to share their thoughts and insights: How can we better integrate the study of the microbiome and viral interactions into neurodegenerative disease research? What implications might the recent findings about COVID-19 have for the future of neurology? Are there other overlooked factors that could be pivotal in understanding and treating these diseases? 🤝 Your perspectives are invaluable in broadening our collective understanding and paving the way for innovative approaches. Let’s discuss! John Cryan Marcus Böhme, PhD Frank Bernier, PhD, MSc, CIP #Neuroscience #NeurodegenerativeDiseases #Microbiome #ViralOrigins #ParkinsonsDisease #ResearchCollaboration