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thomas robert

@nephrobug

nephrologist, MD, PhD, genetic kidney disease and rare kidney disease in Saint Joseph hospital and C2VN lab

 Marseille, France
Joined September 2011
  • Tweets2.7K
  • Following4K
  • Followers1.9K
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Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)Photo by thomas robert (@nephrobug)
Our paper in Joint Bone Spine shows the first link between a novel CNNM2 variant & early-onset CPPD. The variant drives renal Mg wasting → chronic #hypomagnesemia. This expands the CNNM2 phenotype & urges genetic testing in atypical #CPPD. sciencedirect.com/science/ar…
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The debate on #CKDx classification continues! We’ve read the reply from the @ERAkidney G&K group. They champion simplicity over precision. A thread 🧵:
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1/ They call our process-based framework a “submarine with sails” ⛵ – brilliant in theory, but impractical in their view. At glance, the current g/h looks attractive, but a binary system risks taking us backward, ignoring the rich data already at hand.
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💡 CKDx is a good start — but can we go further? 🔍 🚀 Exploring the strengths & limits of CKDx — and how we can push precision nephrology to the next level. @Laurent_Mesnard 🎥 oup.cloud.panopto.eu/Panopto… 🧬 #Nephrology | 🧪 #Genomics | 🎯 #PrecisionMedicine
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CKDx: a necessary step—but can we go further? academic.oup.com/ndt/article…
CKDx: a necessary step—but can we go further?

CKDx: a necessary step—but can we go further?

The classification of chronic kidney disease (CKD) without a definitive diagnosis, such as CKD of unknown origin (CKDu), remains a major clinical challenge

academic.oup.com
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🧬 Our review on nephrogenomics in adults is out in Nature Reviews Nephrology! From diagnosis to therapy and precision care — including long-read sequencing & ethical issues. 📖 doi.org/10.1038/s41581-025-0… #Nephrology #Genomics #CKD #PrecisionMedicine
Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease manage...

Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease manage...

Nature Reviews Nephrology - This Review examines the use of pangenomic analysis to improve molecular diagnoses in adult nephrology, including available sequencing methods and their applications....

nature.com
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➡️ ~20% of adult CKD of unknown origin are Mendelian. Panel-based approaches often miss phenocopies. 🔎 WES & WGS allow reclassification of many misdiagnosed cases.
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🥝Le potassium ne fatigue pas les reins 🚦Mais en cas de maladie rénale, il peut devenir un vrai danger s’il s’accumule. 🟢 Modéré 🟡 À surveiller 🔴 À limiter sévèrement 🍌 🍫 🥝 🍅 🥔… Apprenez à les repérer ! 📄 Une fiche claire et pratique. 📥 -->: hopital-saint-joseph.fr/imag…
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Journée mondiale du Rein ! Équipe de choc à l’@HopitalSaintJo pour le dépistage des maladies rénales. Si vous avez un ou plusieurs membre de votre famille avec une maladie rénale, faites vous dépister ! Prévenir, c’est déjà traiter. @FranceRein @com_SFNDT
Image from thomas robert (@nephrobug)
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Enfin notre travail arrive à son but avec Emmanuel Letavernnier ⁦@com_SFNDT⁩ « Lissage brésilien » : la France préconise de « limiter voire interdire » l’utilisation des produits contenant de l’acide glyoxylique dans l’UE lemonde.fr/sante/article/202…
« Lissage brésilien » : la France préconise de « limiter voire interdire » l’utilisation des...

« Lissage brésilien » : la France préconise de « limiter voire interdire » l’utilisation des...

Les autorités sanitaires françaises souhaitent voir l’Union européenne se prononcer sur la limitation, voire l’interdiction, de cette substance dans les cosmétiques qui peut causer une insuffisance...

lemonde.fr
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Un must pour les analyses de données brut de génétique ! genomnis.com/contact/candice
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Just joined the Anime.com waitlist!
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🔍 Multicenter study (Lille-Paris-Bordeaux-Marseille): Dominant Alport can lead to end-stage kidney disease (28.7%), challenging expert opinions. Glycine substitutions in distal exons of COL4A3/4 worsen renal prognosis. Toward personalized follow-up. academic.oup.com/ndt/article…
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome

Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome

ABSTRACTBackground. Unlike X-linked or autosomal recessive Alport syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients c

academic.oup.com
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🌟Faciliter l’accès à la néphrogénomique passe par l’implication de tous les cliniciens. 🩺 En intégrant la génomique au cœur des pratiques, nous construisons la médecine de demain. 🚀 L’ouverture d’aujourd’hui sera la génomique de demain.#nephrogénomique nature.com/articles/s41431-0…

Non-geneticist champions are essential to the mainstreaming of genomic medicine

European Journal of Human Genetics - Non-geneticist champions are essential to the mainstreaming of genomic medicine

nature.com
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Delighted to share our multicenter study on Alport Syndrome and multicystic kidney disease. Our findings suggest no significant association, contributing to the ongoing discussion on the AS spectrum. Read more in @NDTsocial : academic.oup.com/ndt/advance…
Challenging the narrative of Alport syndrome spectrum: no link with cystic phenotype

Challenging the narrative of Alport syndrome spectrum: no link with cystic phenotype

ABSTRACTBackground. Alport syndromes (AS) are the second leading genetic cause of kidney failure. Whether the multiple kidney cysts (MKC) phenotype belongs

academic.oup.com
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Notre étude remet en question dans @NDTsocial l’association entre syndrome d’Alport et le phénotype des kystes renaux! Bravo à Marie-Sophie Pagniez, @Laurent_Mesnard, l’équipe de Lille et Bordeaux, et biomnis pour cette belle collaboration! @FiliereORKiD academic.oup.com/ndt/article…
Challenging the narrative of Alport syndrome spectrum: no link with cystic phenotype

Challenging the narrative of Alport syndrome spectrum: no link with cystic phenotype

ABSTRACTBackground. Alport syndromes (AS) are the second leading genetic cause of kidney failure. Whether the multiple kidney cysts (MKC) phenotype belongs

academic.oup.com
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🎉 Honored to see our work, with emmanuel Letavernier, on the risks of glyoxylic acid-containing hair-straightening products featured in an editorial in Kidney International! 🩺🔬 sciencedirect.com/science/ar…
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Congrats @AlexandreLoupy @ParisTxGroup for this wonderful achievement published in @NEJM —> Microvascular Inflammation of Kidney Allografts and Clinical Outcomes. nejm.org/doi/full/10.1056/NE…
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Session @Firn_sfndt rein et sepsis ! Salle comble #sfndt24 @yosuluque
Image from thomas robert (@nephrobug)
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Image from thomas robert (@nephrobug)
Image from thomas robert (@nephrobug)
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So happy to share this huge work that enable 27DupC MUC1 pathogenic mutation systematic screening through Exome sequencing data !!! Congrats to Ilias Bensouna! @Laurent_Mesnard #french_nephrogenomic_team @FiliereORKiD @com_SFNDT journals.lww.com/jasn/abstra…
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Hair-straightening cosmetics containing glyoxylic acid induce crystalline nephropathy - Kidney International kidney-international.org/art… Excited to share our 2nd paper with Emmanuel Letavernier finalizing complete mechanism of glycoxylic acid kidney toxicity @com_SFNDT @Firn_sfndt
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🤞 I just entered a giveaway for @onchainheroes from @onchainheroes on #Alphabot 🙏 @alphabot send me your energy ༼ つ ◕_◕ ༽つ 🙏 alphabot.app/onchain-heroes-… # via @
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