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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

A framework for the evaluation and reporting of incidental findings in clinical genomic testing | European Journal of Human Genetics (nature.com) Currently, there are no widely accepted recommendations in the genomics field guiding the return of incidental findings (IFs), defined here as unexpected results that are unrelated to the indication for testing. Consequently, reporting policies for IFs among laboratories offering genomic testing are variable and may lack transparency. Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS). The framework prioritizes clinical significance and actionability of IFs and follows a stepwise approach with stopping points at which IFs may be recommended for return or not. 

It is British Science Week 2024! To celebrate, we would like to tell you more about our research themes! Today is Cellular dynamics and compartmentalisation theme: Virtually all cellular functions in animals and plants – including division, differentiation, migration, adhesion and secretion – are dependent on cytoskeletal and membrane dynamics. MCF researchers use the very latest approaches in cell manipulation, biological imaging and proteomics to explore how the functions of cellular membranes and the cytoskeleton are governed, and the impact of impaired cell dynamics on numerous common and rare diseases.  Learn more about researchers from the School of Biological Sciences associated with cell dynamics research: https://lnkd.in/e4F8ExJQ #BritishScienceWeek2024

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

I am thrilled to share with you that today is my first day of my interdisciplinary PhD in bioinformatics at IPMC CNRS-U. NICE SOPHIA, under the Doctoral School Sciences de la vie et de la santé. Title: “Identification of cellular circuit alterations in the airways at different stages of chronic obstructive pulmonary disease (COPD)” #bioinformatics #phd #COPD #pulmonaryepithelium #mathematicalmodelling #GRN #celldifferentiationgraph #systemsbiology

It is an honor to participate in the 12th National Congress and the 3rd International Congress of Bioinformatics in Iran at the University of Science and Technology of Mazandaran, and present a poster on the topic :( Bioanformatics approach for shedding light on controversial information of IGF1/2 expression pattern in Hepatocellular carcinoma). Special thanks to my esteemed professor Massoud Vosough, MD, Ph.D whose unparalleled guidance has been a guiding light for me on this journey. Iranian Bioinformatics Society (IBIS)

📢 Original article Sharing-Vol. 29 No. 9 💕 Title: Aurora A Kinase Begins to Localize to the Centrosome in the S-phase of the Cell Cycle in the XL2 Cell Line 🤵 Authors: Rustem Uzbekov*, Svetlana Uzbekova, Fedor Severin, Claude Prigent, Yannick Arlot-Bonnemains 🔔 Full Text: https://lnkd.in/gRrwmbdc 🔑 Keywords: centrosome cell cycle Aurora A kinase mitosis centrosome separation 😎Welcome to your reading! #Bioscience #biomedicalscience #biochem #medicalscience #ScienceCommunication #Biochemistry #StemCell #Virology #CancerResearch #immunology #Genetics #MolecularBiology #Microbiologyg #medicine #health #CellularHealth #CellCancer

🔬 Thrilled to share our latest paper in PLOS, where I am proud to be the co-first author! Our study delves into monoamine transporters, pivotal in neurotransmission. By employing the innovative QTY code, we crafted water-soluble variants with minimal structural alterations. Our findings also uncovered multiple QTY variations in genomic databases, shedding light on their phenotypical and topological characteristics. By extending the evolutionary game theory (ESS), we offer insights into the evolutionary dynamics of chemically distinct (but structurally similar) alpha-helices and potential therapeutic interventions. This research suggests QTY variants hold promise as tools for medical, structural, and evolutionary studies, opening new avenues for therapeutic interventions!

🗞 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

DNA breaks happen frequently in our body as part of physiological processes or as a result/cause of many diseases, notably cancer. Thus, the question of how DNA is repaired in a robust and timely manner remains one of the most important questions in biology, with immense potential applications. The project spearheaded by me, along with my colleagues from Ecole normale supérieure, Marseille, Grenoble, and the USA, has just been published in the journal Nature Structural and Molecular Biology, provides some answers to this question. Using an integrative structural biology approach, we characterized a previously overlooked part of the DNA repair machinery that lacks stable 3D structures. We demonstrated that this part plays a crucial role in DNA repair by forming interaction networks and inducing the formation of condensates, thereby accelerating the DNA repair process. This project is the main part of my PhD and has been more than four years in the making, with enormous obstacles from the beginning toward the end. I am happy that I managed to push it through to the finish line and learned a lot along the way. https://lnkd.in/g4iCWqAY