GnBresearch

Inserm U1245 research unit, University of Rouen Normandy, Rouen University Hospital, national reference center for young Alzheimer patients (CNRMAJ)

[Gaël Nicolas @GJRNicolas]

Happy to share our report on 1st case of APP gene triplication (4 copies of APP) in a patient with early-onset cerebral amyloid angiopathy and Alzheimer disease with an age of onset among the earliest as compared to APP duplication carriers (3 copies)
https://t.co/QOUtlgYppS

[Gaël Nicolas @GJRNicolas]

How increased Tau expression throughout life can lead to diverse types of 3R/4R/mixed tauopathies? This is the main question asked from exceptional cases with MAPT duplication https://t.co/bfJf3gr4Rl

[Alzforum @alzforum]

Bigger is better at #AAIC20. Genetic studies expand in breadth and depth, unearthing new genetic variants tied to a person’s risk of developing AD. @VUuniversity https://t.co/bGFEPYm5Px

[Gaël Nicolas @GJRNicolas]

Great collaboration across Europe (ADES consortium) and the USA (ADSP) and huge efforts during several years to generate, gather, reprocess raw data & analyse >20,000 exomes of AD patients and controls with original results.

[Gaël Nicolas @GJRNicolas]

Our collaborative work involving multiple centers is available as a preprint. New genes hit by rare variants in #Alzheimers disease confirm the critical role of Abeta peptides in AD etiology. @HolstegeHenne @jcl_lambert @CHURouen https://t.co/vchcraZ3gB

[AD/PD - Advances in Science & Therapy @adpdnet]

Did you binge-watched the #AATADPD #Alzheimers and #Parkinsons research symposia, too? Read this article 👉In DIAN-TU, Gantenerumab Brings Down Tau. By a Lot. Open Extension Planned. Thank you, @alzforum!
https://t.co/INwXKFIkCN

[Gaël Nicolas @GJRNicolas]

@alzforum Very encouraging for the future of AD prevention! Obviously not the final one, but a big step forward. The right target, the right drug(s), at the right dose, time, and duration will pay off in future powerful trials.

[Gaël Nicolas @GJRNicolas]

@alzforum Abeta may not be the right target when first symptoms are already present, but years before. Never throw out an hypothesis that is driven by the already compelling evidence: genetics and subsequent functional studies.

[Gaël Nicolas @GJRNicolas]

@alzforum A negative trial is only negative regarding its outcomes and specific design. If you recanalize a brain artery after irreversible damage is done, no improvement is expected... but should we abandon the idea of recanalizing brain vessels at any time? Same for Abeta.

[Gaël Nicolas @GJRNicolas]

@alzforum AD is a complicated process. Genetics tells us that Abeta aggregation is a pivotal triggering factor, both in autosomal dominant and complex forms (APOE, TREM2, SORL1, ABCA7...) but targetting Abeta alone after the no return point is already behind may not be the best option

[Gaël Nicolas @GJRNicolas]

@alzforum Congratulations to all DIAN-TU investigators for this very challenging work. Congratulations to all participants as well. Don’t give up!

[Alzforum @alzforum]

Anti-Aβ therapeutic antibody gantenerumab reduced tau biomarkers in #Alzheimer’s trial. By a lot. After a five-year trial, it’s on to high-dose long-term extension. #KnightADRC #Roche #Alzforum https://t.co/TF1bg6cH0R

[C à vous @cavousf5]

#Chloroquine : 💬 « La science et la médecine ne sont plus décidées par des articles publiés dans des revues, elles sont décidées sur Facebook et Twitter ! »

La colère du Professeur @GilbertDeray dans #CàVous ⬇️

[Christian Dina @genotepes]

Our paper on Genetic of France is now out in @ejhg_journal. By Aude Saint Pierre, @jgiemza1 and @isamtalves. Co-led with @GeninEmmanuelle. Since preprintn we added the impact of neolithic and bronze age populations in collab with @mathiesoniain. Thread
https://t.co/i4zKjLLIyc

[Lot Snijders Blok @Lot_SB]

Bureaucracy in medical research...so recognizable! Files with >200 pages, unnecessary forms and signatures, patient information letters of 15 pages, >1 year delays and a lot of frustration...something has to change! https://t.co/4lXmpaPutP

[Florence Riccardi @FlorenceRicc]

François Lecoquierre (Rouen) presenting pathogenic variants in the CDX2 gene causing sirenomely and proposing NKD1 as a good candidate ! Call for collaboration. #assisesgenetique

[Svetlana Gorokhova @SGorokhova]

Next, Olivier Quenez (Rouen) on their CNV detection pipeline using CANOES – 100% sensitivity for small panels and 87% for exomes (certain small exons missed) #AssisesGenetique

[GnBresearch @GnBresearch]

@FranceAlzheimer La définition d’un facteur de risque génétique est justement qu’un tel facteur n’est ni nécessaire ni suffisant. Etre porteur d’un facteur de risque génétique comme APOE4 augmente le risque mais n’est donc pas suffisant, pris isolément, pour développer la maladie. 2/2

[GnBresearch @GnBresearch]

@FranceAlzheimer Il est difficile de tirer des conclusions sur une seule famille. Les études pratiquées sur des milliers de paires de jumeaux montrent un rôle important des facteurs génétiques dans le développement de la maladie d’Alzheimer non monogénique. 1/2

[Agustin Ruiz Laza @jineto_ARL]

We are in #lille @PasteurLille. Hosting by @jcl_lambert and @P_Amouyel Presenting @JPNDeurope #EADB project results:the largest effort for genome research in #Alzheimers #ENDALZ ever. Meeting Start!