lmesnard.bsky.social
@lmesnard.bsky.social
A Pilot Study of Pharmacogenomics in Patients with Kidney Failure of an Unknown Cause - Kidney International Reports www.kireports.org/article/S246...
A Pilot Study of Pharmacogenomics in Patients with Kidney Failure of an Unknown Cause
Chronic kidney disease (CKD) affects about 850 million people worldwide and is a leading cause of illness and death.1 Patients with advanced CKD, especially in stage 5, face higher risks of drug toxic...
www.kireports.org
August 22, 2025 at 6:00 PM
Reposted
💡 CKDx is a good start — but can we go further?

Réflexion sur les forces et limites de la classification CKDx, et comment pousser plus loin la médecine de précision en néphrologie.

🎥 oup.cloud.panopto.eu/Panopto/Page...

#Nephrology #Genomics #CKDx #PrecisionMedicine
CKDx is a good start - But can we go further?
Presented by Laurent Mesnard Article DOI: https://doi.org/10.1093/ndt/gfaf138
oup.cloud.panopto.eu
August 8, 2025 at 7:28 PM
Reposted
Most genomics research cohorts are made up of participants of European ancestry, which limits the reach of precision medicine. A paper in Nature Communications describes the genetic diversity in the All of Us research program, which is enriched in underrepresented ancestries. 🧬 🧪
Genetic ancestry and population structure in the All of Us Research Program cohort - Nature Communications
Most genomics research cohorts are made up of participants of European ancestry, which limits the reach of precision medicine. Here, the authors describe the genetic diversity in the All of Us research program, which is enriched in underrepresented ancestries.
go.nature.com
May 9, 2025 at 4:21 PM
Reposted
Tripartite motif-containing 8 (TRIM8) gene mutations are associated w/autosomal dominantly inherited neurorenal syndrome. Read these Clinical Insights into a nonsense mutation in TRIM8 in a 1-yr-old boy, mimicking collagenopathy in kidney biopsy.
link.springer.com/article/10.1...
December 31, 2024 at 5:14 PM
Reposted
Genotype-First Analysis in an Unselected Health System–Based Population and Phenotypic Severity of COL4A5 Variants.

tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
Genotype-First Analysis in an Unselected Health... : Journal of the American Society of Nephrology
udy, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic or likely pathogenic in ClinVar, or protein-trun...
journals.lww.com
December 14, 2024 at 2:48 PM