Interested in working on human genome data from @PacBio's technology? Interested in the genetics of Alzheimer's disease? Skilled in bioinformatics? Apply for a #PhDposition in a dynamic, multidisciplinary team at the forefront of #Alzheimer's disease #genomics research!
Le #CNRMAJ n'hésite pas en effet à se déplacer pour expliquer le plus simplement possible comment se diagnostique la maladie, quelles sont les lésions et quelles avancées thérapeutiques sont attendues.@franceinfo https://t.co/HJYYOfia2f
Cette semaine passée, riche d'un congrès sur la maladie d'Alzheimer à Bordeaux #RFMASA, a aussi été l'occasion lors de la journée mondiale Alzheimer, de parler sur des plateaux radio et TV comme par exemple le magazine de la santé !
https://t.co/XnkZQCfc9a
@CHURouen@francetv
La journée mondiale contre la maladie d’Alzheimer avait lieu hier. @f3normandie s’est intéressé aux malades jeunes et aux aspects génétiques en visitant le Centre National de Référence Malades Alzheimer Jeunes (CNRMAJ) du @CHURouen@univrouen
https://t.co/XYhkoHywnf
We were asked to summarize our thoughts on the recent Aβ-immunotherapy trials and what the next steps need to be - I am curious what you think? https://t.co/skN4E4VSHN
@GarnierCrussard@VincentPlanche Merci @GarnierCrussard. Tout ceci ne pouvait pas être tranché mais la approche ont été très complémentaire !
Je repiquerai une image montrée dans ce congrès qui illustre un peu le propos...
#Recherche Objectif du projet CIRAANO, porté par l’équipe @Neuropresage de @ChetelatLab : mieux comprendre le cerveau humain grâce à des outils d’imagerie cérébrale de pointe @Cyceron14 pour améliorer la prise en charge des patients atteints de troubles de la mémoire.
@GJRNicolas Thanks @GJRNicolas you were faster than me! But indeed, an extensive description of that rare cause of early onset AD with still an interesting phenotype heterogeneity to understand... (work in progress... ) #Alzheimer#Genetics
Wondering about the imaging and clinical phenotype of APP duplication carriers? Here is the description of the French series of 43 carriers + comparison to sporadic CAA patients
https://t.co/0KKKKVqnz1
#Alzheimers#stroke
1/5 I am delighted to share (Open Access) the 1st part of our meta-analysis/review on high-clearance anti-amyloid immunotherapies in #Alzheimers with @VincentPlanche and Prof Richard Levy, finally published in #RevueNeurologique👇🏻
https://t.co/PWOvhkvG3u
Lilly’s Alzheimer’s drug donanemab succeeds in PhIII trial – 35% slowing of decline in those with intermediate tau levels on both iADRS and CDRSB. Really exciting news for our patients. Details will be shared at AAIC #alzheimers#diseasemodification https://t.co/CSPCtVAzYs
How can short read, long read whole genome sequencing and RNAseq help diagnose patients with rare diseases? Our experience from 5 trios
https://t.co/f6lvR1TCsC
Thank you to all collaborators and big congrats to @francois_leco who did a terrific job!
@CHURouen@InsermNordOuest
Should SORL1 loss-of-function rare variants be used in genetic counseling of #Alzheimer disease as APP, PSEN1 or PSEN2? Some pieces of answer in our new paper published in @GenomeMedicine
https://t.co/aLkgCxs05s
Congratulations @GJRNicolas @Kevin_Cassinari @GnBresearch@davidwallon_ et al. - "Increased copy number of APP is sufficient to cause AD and CAA, with likely earlier onset in case of triplication compared with duplication" @GreenJournal https://t.co/wyVLyuhfNL
Glad that the first APP triplication is reported by the lab where APP duplications where first reported back in 2006! Thank you to all coauthors @Kevin_Cassinari @GnBresearch@davidwallon_ and coauthors not on tweeter incl. Lou Grangeon, Anne Rovelet-Lecrux and collaborators
Grangeon et al. show that biallelic MYORG mutations cause primary brain calcification with cerebellar atrophy and a prominent motor phenotype. https://t.co/rJW1MMN7LB