Mette Hansenholt’s Post

Don't forget to join the Inaugural ALS Publication Review Webinar today at 4:00PM ET. We are thrilled to collaborate with ALS ONE on this series! ▶ Registration for the webinar: https://lnkd.in/g2AXCx97 ▶ Read the article ahead of time: https://bit.ly/IGTICOPALS #ALS #NEALS #ALSONE #ALSPublicationReviewSeries #ALSPublication #GeneticTesting #ALSGeneticTesting #FamilialALS #FALS #ALSAuthors #ALSCommunity

Exciting Breakthrough in Neurodevelopmental Disorder Diagnosis! Researchers at the University of Adelaide have made a significant advancement in diagnosing rare neurodevelopmental disorders using a simple skin biopsy from the upper arm. This innovative genetic diagnostic method, led by Dr. Lachlan Jolly and Professor Jozef Gecz, allows for the identification of conditions like Rett Syndrome, epilepsy, and Down Syndrome without the need for invasive brain tissue samples. Currently, many children in Australia, about one in 50, are affected by these disorders, with approximately 6000 rare conditions often lacking proper names or diagnoses. The team’s approach involves activating brain disease genes in skin cells to analyze their RNA, which could provide crucial insights into the pathology of genetic variants that typically go undiagnosed. This research is part of the PERSYST Study, a national initiative aimed at providing better care and support for individuals with genetically undiagnosed rare diseases, ultimately ending their diagnostic journeys and improving their quality of life. This breakthrough highlights the potential of non-invasive methods in genetic diagnosis and opens doors for precision treatments in the future. Kudos to the team at the University of Adelaide for their outstanding contributions to enhancing our understanding of neurodevelopmental disorders! #Neurodevelopment #GeneticResearch #Innovation #Healthcare #UniversityofAdelaide

📃Scientific paper: The Multiple Roles of Autophagy in Neural Function and Diseases Abstract: Autophagy involves the sequestration and delivery of cytoplasmic materials to lysosomes, where proteins, lipids, and organelles are degraded and recycled. According to the way the cytoplasmic components are engulfed, autophagy can be divided into macroautophagy, microautophagy, and chaperone-mediated autophagy. Recently, many studies have found that autophagy plays an important role in neurological diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease, neuronal excitotoxicity, and cerebral ischemia. Autophagy maintains cell homeostasis in the nervous system via degradation of misfolded proteins, elimination of damaged organelles, and regulation of apoptosis and inflammation. AMPK-mTOR, Beclin 1, TP53, endoplasmic reticulum stress, and other signal pathways are involved in the regulation of autophagy and can be used as potential therapeutic targets for neurological diseases. Here, we discuss the role, functions, and signal pathways of autophagy in neurological diseases, which will shed light on the pathogenic mechanisms of neurological diseases and suggest novel targets for therapies. Continued on ES/IODE ➡️ https://etcse.fr/eGY1R ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

Shared cellular mechanisms across three major dementias The researchers performed single-cell genomic analysis on more than 1 million cells to identify distinct and shared molecular markers in three related conditions: Alzheimer’s disease, frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP). In addition to validating changes previously observed in AD, they identify dozens of cell types whose changes are shared across multiple dementias and several cell types whose changes in disease were specific to a single disorder, many of which had not been previously identified. The researchers: Identified unique changes specific to Alzheimer’s disease and demonstrated that several findings in Alzheimer’s were also observed across the other disorders, identifying targets for therapeutic development. Found that “cellular resilience programs” – molecular mechanisms that support cells in response to injury – activated or failed differently, when comparing the same cell types across disorders. Were surprised to discover that each of the three disorders had changes in cells of the primary visual cortex – the area of the brain that processes visual information and which was thought to be unaffected by dementia. In PSP, this discovery revealed previously unknown changes in brain cells called astrocytes. Identified specific changes in the expression of certain tau-related genes and others in PSP. These appear to correlate with the unique pattern of brain cell degeneration that is observed in PSP. #ScienceMission #sciencenewshighlights https://lnkd.in/gNqEJjCY

💡⭕️ New preprint 🔬🧬: "Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions." We're pleased to announce our recent study now published as a preprint on medRxiv. This research explored the genetic relationships between 🍬 insulin resistance-related conditions and a range of 🧠 neuropsychiatric disorders at the level of individual genomic regions 🧬, while investigating likely causal shared genetic factors and biological mechanisms at play. Key aspects of our study: - Through Local Analysis of [co]Variant Association (LAVA), we identified 109 unique genomic regions with significant local genetic correlations, challenging traditional disease categorization and boundaries. - Significant genetic correlations were also found within the Major Histocompatibility Complex (MHC) region, known for its immunological functions, indicating its involvement in the genetic overlap between the studied conditions. - The study reveals local genetic correlations for conditions like Alzheimer’s disease, bipolar disorder, and Tourette’s syndrome with insulin resistance-related conditions, although previous studies did not find any global genetic correlation. - Our findings also highlight pathways and potential therapeutic targets that could lead to novel treatment strategies for insulin resistance-neuropsychiatric multimorbidity. 🔗 Read the full manuscript for a comprehensive understanding of our research and its implications: https://lnkd.in/dyUBb-6p 📖 The importance of this work: Our findings encourage a more integrated and holistic approach to understanding and treating metabolic and neuropsychiatric comorbidities, reflecting the complex interplay between genetic factors across traditionally separate disease domains. #PsychiatricGenomics #MetabolicHealth #Genomics #PrecisionMedicine #InsulinResistance #mood #psychosis Radboudumc Janita Bralten European College of Neuropsychopharmacology (ECNP) concentris research management GmbH A chord plot showing local genetic correlations between insulin resistance-related conditions and neuropsychiatric disorders ⬇️

Recently, I encountered Dr. X., a pediatric neurologist, in the hallway. I mentioned that I now follow G.´s family for their medical genetics appointments. The family asked me to express their profound appreciation to Dr. X for her compassionate care and dedication to G. during his years living with Duchenne muscular dystrophy (DMD). When Dr. X. inquired about G.'s well-being, a lump formed in my throat. I had to share the difficult news that G. had sadly passed away two years ago in his early twenties from complications of DMD. Dr. X.'s eyes welled up, and a heavy silence filled the air. We then shifted gears, discussing the crucial importance of maintaining accurate patient data with genetic information. G. had a nonsense mutation, which may be targeted by future gene therapies. Up-to-date records are essential for matching DMD patients with the most appropriate gene therapy options. In that quiet moment of reflection, Dr. X.'s gaze towards the empty wall wasn't just about grief, but about the future. It was a poignant reminder that while treatments may not have arrived in time for G., our continued efforts hold the promise of a brighter future for other DMD patients. Let's honor G. and the estimated 20,000 children diagnosed with DMD globally every year. Together, we can work towards a future where science offers hope. #DuchenneMuscularDystrophy #GeneTherapy #NeverGiveUp Link: www.worldduchenne.org

Exciting Announcement! Delighted to share the release of "Huntington’s Disease: Pathogenic Mechanisms and Implications for Therapeutics," edited by X. William Yang, Myriam Heiman (MIT), Leslie M. Thompson (UC Irvine). Huntington's disease (HD) is a prevalent dominantly inherited neurodegenerative disorder, marked by a clinical triad of movement disorder, cognitive deficits, and psychiatric symptoms. This groundbreaking book delves into the latest research on HD pathogenic mechanisms and cutting-edge therapeutic strategies. Key features include: 🔬 Comprehensive coverage of clinical features and genetic studies 🧬 In-depth exploration of cellular and molecular biology of normal huntingtin 🔍 Examination of various HD models 💡 Insights into diverse pathogenic mechanisms associated with mutant huntingtin 🚀 Exploration of new approaches to HD pathogenesis 💊 Review of emerging preclinical therapeutic approaches and clinical programs Don't miss out on this invaluable resource for researchers, clinicians, and anyone interested in advancing our understanding and treatment of Huntington's disease. Get your copy today! #HuntingtonsDisease #NeurodegenerativeDisorders #Therapeutics #Research #BookRelease #ElsevierBooks https://lnkd.in/gzZ_zx9N

Patients presenting with stage 4 ovarian carcinoma, including low-grade serous disease, have a poor prognosis. Although platinum-based therapies can offer some response, these therapies are associated with many side effects, and treatment resistance often develops. Toxic side effects along with disease progression render patients unable to receive additional lines of treatment and limit their options to hospice or palliative care. In this case report, we describe a patient with an unusual case of metastatic low-grade serous ovarian cancer with some features of high-grade disease who had received four previous lines of treatment and was suffering from atelectasis, pulmonary embolism, and hydronephrosis. A CLIA-certified drug sensitivity assay of an organoid culture derived from the patient's tumor (PARIS® test) identified several therapeutic options, including the combination of fulvestrant with everolimus. On this treatment regimen, the patient experienced 7 months of stable disease and survived nearly 11 months before succumbing to her disease. This case emphasizes the clinical utility of ex vivo drug testing as a new functional precision medicine approach to identify, in real-time, personalized treatment options for patients, especially those who are not benefiting from standard of care treatments. Al-Aloosi M, Front Oncol. 2024 Jan 4;13:1267650. doi: 10.3389/fonc.2023.1267650. PMID: 38239650; PMCID: PMC10794297. #Gesundheit #Bildung #Fuehrung #Coaching #Mindset #Motivation #Gehirn #Neuroscience #Psychologie #Persoenlichkeitsentwicklung #Kindheit #KeyNoteSpeaker #Humangenetik #Biochemie #Neuroleadership #Ernaehrung #Transformation #Stress #Demografie #Gender #Age #interkulturelleKompetenz #Epigenetik #Veraenderung #EmotionaleIntelligenz #Change #Gesellschaft #Organisationsentwicklung #Philosophie #Beratung # Quantum

What role does microRNA play in chronic stress? 🧠 Did you know Norgen Biotek’s Total RNA purification technology effectively isolates small RNAs including microRNAs without the need for phenol/chloroform or carrier RNA, which helped the authors of this study characterize the role of miR-186-5p as a therapeutic target for neuropsychiatric disorders.  💡 To know more,  Check out the full study: https://lnkd.in/eeBC-saA Learn more about the products: https://lnkd.in/eRe63cKX URGENT 🚨 : This product is featured in our back-to-school campaign so don’t miss out, act now! 👉 https://lnkd.in/dtpmBTcB #RNAisolation #microRNA #chronicstress #MolecularBiology #NorgenBiotek #ResearchAndDevelopment

Two-thirds of Alzheimer’s disease (AD) patients are women, having twice the lifetime risk of developing AD (1 in 5) compared with men (1 in 10). This is why it’s so important to take into account donor and sex-related differences in disease pathology during the pre clinical workflow. This is why we added a female derived, deterministically programmed microglia to our neuroscience toolkit, to allow scientists to investigate how male and female microglia respond differently to neuroinflammation and disease progression. To find out more about our opti-ox powered female ioMicroglia, click here > https://hubs.ly/Q02Pl01J0 #research #DrugDiscovery #iPSC #microglia #ioMicroglia #neurodegeneration #AlzheimersDisease #cell #optiox #ioCells #launch