Série 3 – La minute INFLAMME : un article, un auteur
Article 01 : Variants MEFV – tri à grande échelle

Notre journal club en format court : 1 minute, un article récent, présenté par son auteur.

#FHUINFLAMME #LaMinuteInflamme #JournalClub #MEFV #AutoInflammation #Inflammation #Génétique#Recherche

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic-health-record.

Great collaboration with the @kidneyomicsamps.bsky.social lab! Thank you Matt for bringing back #MEFV for me, the disease that ignited my interest for #humangenetics when I was still a student! And now a risk factor for #FSGS! When things come together..

www.kidney-international.org/article/S008...

August is Autoinflammatory Disease Awareness Month! Familial Mediterranean Fever #FMF is a genetic disorder caused by pathogenic variants in the MEFV gene 🧬 Free through September - access #MEFV in Mastermind & 32 other clinically significant genes: mastermind.genomenon.com/users/sign_u...

Interesting. I checked my own data and have the top two mutations. Not enough obviously for #mediterraneanfever but I wonder if it also impacts #MultipleSclerosis independent of MEFV.

#MEFV = #Met694Val