Paola Porracciolo’s Post

📣 Event update: 15th European Epilepsy Congress   💡 #EURASproject partners Kirsten Eschermann and Lorenz Kiwull from Paracelsus Medizinische Privatuniversität attended the 15th European Epilepsy Congress to present a poster on “Standard procedure for common data elements in groups of rare diseases”. This novel data selection process is the fruit of a collaborative effort within the EURAS consortium, involving Universidad de Málaga, Otto-von-Guericke University Magdeburg, SYNGAP Elternhilfe e.V. and Paracelsus Medizinische Privatuniversität.   This sophisticated approach method bases itself on the input of several stakeholders, the Delphi method, and bioinformatics analysis. Thanks to its standardised component, this procedure is suitable for various rare disease groups, such as SYNGAP1 and classical RASopathies.   In addition, the poster was selected by the ILAE Young Epilepsy Section as one of ten posters for a special poster tour.🌟   Read the whole article on our website: https://lnkd.in/eM5rpERB #EURASproject #epilepsy #EUResearch

🗞 New paper out in the Journal of Neuromuscular Diseases (IOS Press)! ➡ 'Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy' 🎯 The study led to the molecular diagnosis in a child with Congenital Myopathy, whose diagnostic yield does not exceed 60% 🔬 CNAG conducted a comprehensive analysis of #WGS data from the family trio within the Solve-RD Project 👩🔬 With the participation of our Head of Bioinformatics Unit, Sergi Beltran Agulló, and our Clinical Genomics Manager at Human Genetics, Leslie Matalonga, as well as Hanns Lochmuller, visiting scientist at CNAG 🏥 Variant filtering and prioritisation was performed by Fundació de Recerca Sant Joan de Déu (Daniel Natera and Berta Estévez Arias), using the RD-Connect GPAP, developed and hosted by #CNAG 🎓 This is the final's Master Thesis of Daniel Natera, student from the Master in Genetics and Genomics, organised by CNAG and Universitat de Barcelona #NeuromusculasDiseases #Genomics #Research #CongenitalMyopathies #HumanHealth #RareDiseases #SolveRD #Horizon2020 #UE #GeneralitatDeCatalunya

🔬 Taking microscopy to the cutting edge -- a $6 million grant renewal by the #NIH's National Institute of General Medical Sciences will increase researchers’ access to MDI Bio Lab's Light Microscopy Facility. The grant also supports the sustainability of the Lab’s Computational Genomics and Data Science Core and its Animal Resource Core. https://ow.ly/CLwT50Trgax #NIGMS #biology #microscopy #research #bigdata #genomics 📷: Caroline Halluin. Neurons, nerves and synapses in the larval zebrafish brain.

https://lnkd.in/epPeh6eA Our paper (and the main project of my PhD dissertation) is finally out in Nat. Commun.! 🎉 An amazing collaboration between the Aggarwal, Fang, Filizola, and Shapiro labs! We present the #crystalstructure of M.BceJIV/DNA/Sinefungin ternary complexes. The structures reveal a mode of #DNAbinding wherein each monomer of the homodimeric M.BceJIV #methyltransferase helps to recognize two #DNAs, with allied biochemical, computational, and thermodynamic analyses! I would like to thank all of the co-authors for their great work and help, specially Drs. Aneel Aggarwal and Jithesh Kottur for their guidance throughout this project and my PhD! Olga Rechkoblit Rikhia Ghosh Marta Filizola Gang Fang Department of Genetics and Genomic Sciences at Mount Sinai Icahn School of Medicine at Mount Sinai Graduate School of Biomedical Sciences at the Icahn School of Medicine #epigenetics #DNAmethylation #burkholderia #structuralbiology #crystallography #biophysics #proteinstructure

Join us on Thursday, February 22, to hear Dr. Cecilia Lindskog, Research Group Leader and Associate Professor from Uppsala University, explain the cutting-edge techniques that can be employed to generate high-resolution spatio-temporal maps of human tissues. Attendees will learn: ✔️ The progress made towards a complete spatial map of the human proteome ✔️ How quantitative data can be linked with tissue morphology to create a spatio-temporal single-cell type map ✔️ Examples of novel cell state-specific expression patterns validated with spatial biology techniques ✔️ How spatial biology has provided valuable insights into molecular function and mechanisms of disease pathways Choose the time that works for you: 1) Thursday, February 22, 2024 | 5 AM PT | 8 AM ET | 2 PM CET Register here: https://bit.ly/48kokTo 2) Thursday, February 22, 2024 | 10 AM PT | 1 PM ET | 7 PM CET Register here: https://bit.ly/3wcrE5I #spatialbiology #singlecellspatial #multiplex #singlecell

The Dawn of Spatial Medicine Eric Topol, MD For the first time spatial omics leads to a lifesaving treatment What’s spatial medicine? We’re not talking about space medicine or going to Mars, or a form of rehab. This is about a landmark paper from the Max Planck Institute of Biochemistry, leading an international collaboration across many countries (authors and work from Germany, Japan, Denmark, China, Australia, France, Switzerland, and USA), that moved the field from spatial biology as a research tool to medicine as a therapy. I’ve coined this term to reflect the importance of this advance. https://lnkd.in/duwzwTtc Image: An overview spatial map image made by Georg Walmann at Max Planck Institute of Biochemistry. The “shoreline” is the epidermis and distinct cellular types within the dermis inner layer are tagged, involved with the life-threatening condition of toxic epidermal necrolysis. #PrecisionMedicine #Innovation #Multiomics #ArtificialIntelligence #Science #Research #Oncology #Disease #Pathology

Duke University doctoral students Richard Doty, Marisa Hamilton, Susan Liu, and Maria ter Weele work collaboratively across disciplines, collectively representing three PhD programs within Duke University School of Medicine and Duke University Pratt School of Engineering. Interdisciplinary research provides unique opportunities that support breakthroughs within science and research for these four students. While each of these students conducts different research projects, they ultimately work collaboratively to improve health with a focus on the complex topic of combinatorial genomics or the study of how combinations of genetic variants impact human disease.  Click the link to read the full article about their collaborative work. https://lnkd.in/exjAGura #Duke #IntegrativeGenomics #CollaborativeResearch #Genomics #Science #Research

RESEARCH UPDATE Before sharing some of the latest papers from our Fellows, congratulations to Kay Elder (1978 Fellow) on winning the Biomolecules MDPI Best Paper Award which is granted annually to highlight publications of high quality, scientific significance and extensive influence. The Evaluation Committee Members choose four articles of exceptional quality that were published in the journal in the previous two years and Kay's paper won first prize. https://lnkd.in/e_PE5fcx Dr Nick Hayward (2011 Fellow) Longitudinal single-subject neuroimaging study reveals effects of daily environmental, physiological, and lifestyle factors on functional brain connectivity https://lnkd.in/eUycXXcA Colm McAlinden (2012 Fellow) Cessation of contact lenses prior to corneal tomography for keratoconus monitoring: results from a clinician survey https://lnkd.in/e7pnPgg5 Amit Rimon (2023 Israel Fellow) Complete Genome Sequence of Six Pseudomonas aeruginosa Bacteriophages aim for research and treatments https://lnkd.in/eRjBtCni #science #medicine #research #neuroimaging #cornealtomography #genomesequencing #methylation

The 12th German Center for Lung Research (DZL) Annual Meeting has been an awesome experience! Really grateful to have received the Poster Award of the Disease Area "Diffuse Parenchymal Lung Diseases". A huge thanks to my supervisor Ana Pardo-Saganta for giving me the opportunity to pursue my PhD under her guidance. I would also like to give my gratitude to the DZL Academy, for giving us, the young generation, a platform to learn and interact with other colleages from different areas, and to the MBML Programme, for its outstanding training on molecular biology and medicine of the lung. #DZL, #PulmonaryResearch, #LungDisease, #Science, #Lung, #Award, #Research

We are so proud of Dr. Thyme!!! Learn more about her incredible research program at the article below and on our website!