Excited to show our latest attempt at a clinically meaningful clinical cancer genome with rapid turn around (24 hours!) times using Oxford Nanopore sequencing technology for patients who need a rapid, whole genome assessment of their tumour and germline, offering them (1/n):

🧬 enfin l’installation du séquenceur #P2solo de Oxford Nanopore à l'Établissement français du sang Marseille avec sa tour informatique ultra performante pour bientôt révolutionner le séquençage rapide des MAT et des déficits immunitaires de l’enfant🌟 #Innovation Laurent MESNARD Filière ORKiD @SBurtey

Happy about this tripleX: Title page and editorial on our kidney paper in BLOOD (journal) about gasdermin D in renal TMA CRC TRR332 #neutrophil biology Free link: authors.elsevier.com/a/1jS42_9T5u7hK Editorial: ashpublications.org/blood/article/…

📢 New research underscores the critical role of pangenomic sequencing in patients with High-Risk APOL1 Genotypes for screening a Mendelian kidney disease. —>It highlights the importance of keeping an open mind. kireports.org/article/S2468-… #KidneyDisease #APOL1 Laurent MESNARD

Check out our last work on rapid genomic for TMA management in less than 3 days in Blood journal! Oxford Nanopore @BloodJournal Sorbonne Université #SCAI SINRA-Soins Intensifs Néphrologiques et Rein Aigu #aHUs #CNRMAT MaRIH Assistance Publique – Hôpitaux de Paris (AP-HP) ashpublications.org/blood/article-…

Huge applause to Veronique Fremeaux-Bacchi for receiving the medal for being an Outstanding Complementologist, from the European Complement Network 🏅🌹👏 It was so emotional to present a laudation to my mentor and friend. @CRCordeliers #complementbiology #EMCHD2024

Hair-straightening cosmetics containing glyoxylic acid induce crystalline nephropathy doi.org/10.1016/j.kint… thomas robert Assistance Publique – Hôpitaux de Paris (AP-HP) Inserm #acutekidneyinjury #AKI

This is worth a new thread. Not quite 24 hours. 50 Gb of data with an N50 of 115kb from a single load on a flow cell. This compares with 33.4 Gb in the same time from a standard flow cell with the same library and 2 loads. These beta flow cells need to stop being beta Oxford Nanopore

The MUC1 gene is associated with ADTKD, leading to CKD. This study found that SharkVNTyper enables the analysis of highly repeated regions, such as the MUC1 VNTR. bit.ly/JASN0503 thomas robert

JASN_News thomas robert Great! 👏 An effective method to identify potential #MUC1 patients quickly and easily. This takes us further towards a clinical trial. #ADTKD

Don‘t miss this! It‘s now clear that a large proportion of CKD cases have a monogenic cause. Understanding the test results is easier than you may think, this Genes&Kidney e-seminar will provide the essentials. Meet the experts.

We're thrilled to announce the publication in Blood of this letter demonstrating the feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies (TMAs). TMAs are a group of severe blood disorders characterized by the formation of small blood clots

Study of kidney disease hospitalizations finds that genetic kidney disease leads to higher & more costly admissions than non-genetic chronic kidney disease, highlighting the need for tailored secondary prevention & resource allocation bit.ly/3U0kpHa Prof Andrew Mallett #GIMO

Aujourd'hui nous avons discuté au congres de la #SFMPP2024 /conférence DÔME de l'errance diagnostique et de la place de la génétique y compris en médecine Interne Laurent MESNARD Kévin Yauy Club immunité innée (CINé club) Filière de santé FAI²R _ERNRITA Autoinflammatory All Hôpital Tenon AP-HP Faculté de Santé de Sorbonne Université

Core Curriculum by Abe Aron and Neera Dahl: Clinical Genetic Testing in Nephrology: Core Curriculum 2024 buff.ly/3U411ZU (FREE) Georgetown Nephrology Mayo Clinic Nephrology

Séquencer un génome en moins de 48 heures ! acteursdesante.fr/sequencer-un-g…

Listen November 2024 ASN podcast American Society of Nephrology in which our JASN article on systematic detection of 27DupC MUC1 variant is discussed @JASN #nephrogenomics asn-online.org/media/podcast/…

Systematic Screening of ADTKD-MUC1 27dupC Variant through... : Journal of the American Society of Nephrology journals.lww.com/jasn/abstract/…

Acute HUS: fast-track genetics ashpublications.org/blood/article/…

Now online in NDT How hyperkalemia affects the heart: clinical implications 🧐The ECG of hyperkalemia differs between AKI and CKD through the rate of IC/EC gradient modification. ▶️academic.oup.com/ndt/article-ab…