For all of you interested in the occurrence and characteristics of de novo mutations in the human germline, see our new review, just published online! ⁦Jakob M Goldmann⁩ ⁦Christian Gilissen⁩ ⁦Trends in Genetics⁩ cell.com/trends/genetic…

We are in #lille Institut Pasteur de Lille. Hosting by @jcl_lambert and Philippe Amouyel Presenting JPND Research #EADB project results:the largest effort for genome research in #Alzheimers #ENDALZ ever. Meeting Start!

Alzheimer genetics research in France and Europe: a huge impact of long-term collaboration with the CNRGH CEA for high-quality exome sequencing of thousands of French Alzheimer patients and controls. #EADB #ADES

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

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

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! …andaag-avrotros-nl.cdn.ampproject.org/c/s/eenvandaag…

Our paper on Genetic of France is now out in European Journal of Human Genetics. By Aude Saint Pierre, Joanna Giemza and @isamtalves. Co-led with Emmanuelle Genin. Since preprintn we added the impact of neolithic and bronze age populations in collab with Iain Mathieson. Thread rdcu.be/b1tey

#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 deray gilbert dans #CàVous ⬇️

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 ow.ly/dLS050zbpdu

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.

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.

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.

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

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

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! alzforum.org/news/conferenc…

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. HenneHolstege @jcl_lambert CHU de Rouen medrxiv.org/content/10.110…

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.

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. VU University ow.ly/m4mw50ANJTd

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 link.springer.com/article/10.100…

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) ng.neurology.org/content/7/5/e6…