Nico Lachmann’s Post

PhD position Mitochondrial Investigations Lab: Zebrafish as disease model for nuclear encoded gene defects causing combined respiratory deficiencies, c.q. aARS deficiencies Mitochondria are being attributed many functions, but ATP production by means of oxidative phosphorylation (OXPHOS) is the organelle’s most infamous and studied biochemical pathway. With an estimated prevalence in 1/5000 individuals it is one of the most frequently occurring inherited metabolic diseases. Considering its presence in all nucleated cells, patients often present symptoms in multiple organs. The objective for this PhD project is to engineer zebrafish models for multiple aARS2 deficiencies firstly in order to refine our knowledge on pathophysiology for this disease group, and secondly to develop the model for pre-clinical studies objectifying and quantifying treatment regimes. This PhD will be supervised and facilitated by the Mitochondrial Investigations Laboratory team, headed by professor Dr Arnaud Vanlander. The practical work in zebrafish will be performed at the zebrafish core facility, headed by professor Paul Coucke. The proposed investigation plan foresees expert hands on work: application of gene modification strategies in zebrafish, microscopic as well as behavioral analyses on zebrafish, biochemical analyses for OXPHOS function evaluation on zebrafish material, making a laboratory animal science certificate advisable. Contact us for more information. https://lnkd.in/eEGrKj25

📃Scientific paper: The Role of Transcranial Magnetic Stimulation as a Surrogate Marker of Disease Activity in Patients with Multiple Sclerosis: A Literature Review Abstract: OBJECTIVE: Multiple sclerosis (MS) is a chronic, immune-mediated inflammatory disease of the central nervous system (CNS) characterized by demyelination, axonal degeneration, and cognitive impairment. It also has an important impact on the quality of life of patients and their family members. We sought to determine if transcranial magnetic stimulation (TMS) is a valid instrument for determining disease progression activity in patients with MS. METHODS: A literature search of the PubMed database was conducted using the terms “multiple sclerosis,” “transcranial magnetic stimulation,” and “neurophysiological parameters.” RESULTS: Neurophysiological parameters, such as sensitivity to demyelination and the strength of excitatory and inhibitory synaptic interactions in the cerebral cortex, can be identified through TMS in patients affected by MS. These objective parameters can be correlated with the progression of disease and provide reliable indices for the severity of illness and the efficacy of drugs used to treat MS in clinical trials. CONCLUSION: The discovery of specific and detailed neurophysiological parameters as surrogate endpoints for disease activity could represent an important step in clinical trials. Changes in cortical connectivity have already been demonstrated in MS, but in clinical practice, other measures are typically used to evaluate disease activity. We speculate that TMS might be more effective in identifying disease progression that leads to long-t... Discover the rest of the scientific article on es/iode ➡️https://etcse.fr/b5s3 #neurosciences #science #health #medical

💡 Clinical trial results published in the scientific journal #Brain show the promising potential of L-serine, an amino acid supplement, in the treatment of patients with GRINpathies - ultra-rare disorders caused by mutations in the GRIN genes. 🧬 Dr. A. Garcia-Cazorla, Head of the Metabolic Diseases Unit at the Hospital Sant Joan de Déu Barcelona and one of the  #i4KIDS member research groups from Fundació de Recerca Sant Joan de Déu, highlighted the importance of the study in paving the way for new therapeutic strategies and improving the quality of life for patients with rare diseases. 💥 GRINpathies manifest in severe neurological impairments such as intellectual disability, motor dysfunction and epilepsy, for which there is currently no curative treatment. The Phase 2A clinical trial in 24 patients with GRINpathies demonstrated the safety and efficacy of L-serine supplementation. In particular, improvements in neurological symptoms and a reduction in seizures were observed, marking a significant milestone in the search for effective treatments. The study was conducted in collaboration with leading institutions including the Institute of Neurosciences of the Universitat de Barcelona (INc-UB), Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)and the Universitat de Vic – Universitat Central de Catalunya (UVic-UCC) More information 📢 https://lnkd.in/dSZKZCd5 #i4KIDS #RareDiseaseResearch #Neuropediatrics #HealthcareInnovation #GRINpathies #MedicalBreakthrough

The atlas demonstrates the biology of individual cells in various parts of the nephron (a structural and functional unit in the kidney) and its surrounding tissue, and shows how they are defined by their position in the kidney and by the “signatures” of genes and proteins active within them. Chirag Parikh, M.D., Ph.D., and colleagues contributed biopsy tissues to the atlas from a Johns Hopkins biobank of some 500 kidney tissues. The #biobank, which is linked to detailed clinical data from Johns Hopkins’ electronic medical record, is a powerful tool nephrologists at Johns Hopkins have been developing for several years. To learn more: https://lnkd.in/dbiWqrc6 #KidneyDisease #ClinicalData #KidneyHealth #Kidney #Nephrology #ElectronicMedicalRecords #Medical #Biobanking #PrecisionMedicine #Healthcare #KidneyCells #DataBank Johns Hopkins Medicine

I am thrilled to share that my first research article, titled "Case Report: Effect of Intraovarian Platelet-Rich Plasma Therapy on Latent Female Genital Tuberculosis Patient", has been published! 🌟📚💼 I am immensely grateful for this incredible opportunity to contribute to the field of reproductive medicine and tuberculosis research. In this study, we investigated the efficacy of intraovarian platelet-rich plasma therapy in a latent female genital tuberculosis patient. Our findings highlight the potential benefits of this innovative treatment approach and provide valuable insights for improving patient outcomes. 🩺💪 I would like to specially express my heartfelt gratitude to my dearest mentor Dr. Akash More for his constant support and encouragement, without which it wouldn't have been possible ever! Datta Meghe Institute of Higher Education and Research Deemed to be University for nurturing the young researcher in me and my colleagues for their unwavering support, invaluable guidance, and collaborative efforts. Your expertise and contributions have been instrumental in shaping the research and its publication. With this publication, I am inspired to continue my pursuit of knowledge and dedicated to making a positive impact in healthcare. I am excited about future collaborations, discussions, and opportunities to contribute to the advancement of medical science and patient care. If you are interested in reading my research article, I invite you to access it via the following (https://lnkd.in/dmUuUGNm). I would be delighted to share this work with you and engage in meaningful conversations about its implications. Thank you all for being a part of my journey and for your ongoing support and encouragement. Let's keep pushing the boundaries of knowledge and making a difference in the world of healthcare! 🌍💙 #ResearchArticle #Publication #MedicalResearch #FemaleGenitalTuberculosis #PlateletRichPlasmaTherapy #ScientificResearch #AcademicJourney #Gratitude #Healthcare #MakingADifference #dmiherdu #F1000Research #highereducation #research #grateful #thankyou

Studying medium & large extracellular vesicles from preecplampsia patients: Manu Vatish and collaborators at University of Oxford conducted small RNA sequencing on medium/large syncytiotrophoblast derived-EVs from preeclamptic and normal pregnancy placentae using dual-lobe ex vivo perfusion. Subsequently, the sequencing data underwent bioinformatic analysis to detect differentially regulated microRNAs, which were then confirmed through quantitative PCR analysis https://lnkd.in/eaUQbJHV The authors discovered a microRNA, hsa-miR-9-5p, which exhibited differential regulation and might hold biomarker potential. Additionally, they revealed mechanistic pathways that could be significant in the pathophysiology of preeclampsia. An article also authored by Dr. Toluwalase Awoyemi MBBS DPhil Medical Doctor, Molecular Biologist, Shuhan Jiang, Maryam Rahbar, PhD, Prasanna Logentherian, Gavin Collett, Wei Zhang, Adam Cribbs and A. Sofia Cerdeira, MD PhD #extracellularvesicles #exosomes #preecplampsia #microRNA #Vesiculab

Can we change #prenatalcare? Imaging and genetics have improved #prenatal diagnosis but it may be possibile to have access to functional #personalisedmedicine in the #fetus using minimally invasive testing. Our article on primary organoids derivation from human amniotic and tracheal fluids, is now out on @NatureMedicine. Amniotic fluid cells, containing epithelial progenitors of fetal small intestine, kidney and lung allowed generation of primary fetal organoids from continuing pregnancies. https://lnkd.in/es6Bnsjt Thanks to everyone involved co-Lead Mattia FM Gerli, PhD and collaborator Giuseppe Calà Giovanni Giuseppe Giobbe Dr. Max A Beesley Beatrice Sina Lucinda Tullie, Kylin Yunyan Sun Francesco Panariello Federica Michielin Joeseph R Davidson, Francesca Maria Russo Brendan Jones Dani Do Hyang Lee, Savvas Savvidis PhD Theodoros Xenakis, Ian C Simcock, Anna A. Straatman-Iwanowska, Robert A. Hirst, Anna David, Christopher O’Callaghan, Alessandro Olivo Simon Eaton Stavros Loukogeorgakis Davide Cacchiarelli Jan Deprest Vivian Li UCL Great Ormond Street Hospital for Children NHS Foundation Trust KU Leuven The Francis Crick Institute WEISS UCL Tigem Human Cell Atlas NIHR (National Institute for Health and Care Research) GOSHCC Kidney Research UK @CDHUK Wellcome Trust EPSRC Ministero della Salute Longfonds #PrenatalMedicine #RegenerativeMedicine #FetalDevelopment #MedicalAdvancements #BiomedicalResearch #FetalHealth #MedTech #PrenatalScreening #InnovationsInHealthcare #MedicalBreakthroughs #HDBR #AFO #TFO #AmnioticFluidOrganoids

Our paper about the Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease just got published in Journal of American Society of Nephrology (JASN). This is the fruit of the collaboration with amazing principal investigators of Renasight Clinical Application, Review, and Evaluation RenaCARE study from 31 US-based community and academic medical centers. Natera Organ Health Natera, #Nephrology #Medicine #Kidney #Kidneytransplant #Application #Transplantation #Genetics #Kidneydisease #GeneticTesting #Innovation #Management

he use of race in clinical decision-making is coming under increasing scrutiny, in part because of growing recognition that race-based diagnosis and treatment reflect flawed social, biological, and genetic assumptions. Despite this concern, guidelines, algorithms, and advisory and regulatory bodies (including the US Food and Drug Administration [FDA]) regularly use race in ways that influence clinical decisions. For example, race-based “corrections” have been deemed problematic in algorithms, risk scores, and physiologic calculations used in cardiology, nephrology, urology, and obstetrics.1,2