Jean-Charles Lambert

@jclambert.bsky.social

Team leader, neuroscientist specialized in genetics and post-genomics of Alzheimer’s disease. in EN or/ou en FR 🇫🇷🇪🇺🏳️‍🌈

Finally out in Nature genetics! Our results reveal a novel role for the Alzheimer genetic risk factor PLCG2. Its neuronal Downregulation (or very rare Loss-of-function variants) seem to promote increased Aβ secretion, Tau hyperphosphorylation, and synaptic dysfunction www.nature.com/articles/s41...

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures - Nature Genetics

This study demonstrates that downregulation of PLCG2, primarily in neurons, impairs synaptic function and elevates amyloid-β levels and Tau protein phosphorylation.

nature.com

In this preprint, the main consortia working on Alzheimer GWAS combined their efforts to validate an detect new loci associated with AD risk. We observed 91 genome-wide significant signals (16 nove) . Among these 91 loci, 56 of them are specifically detected in clinically diagnosed AD cases.

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia https://www.medrxiv.org/content/10.1101/2025.10.20.25338060v1

In this preprint led by Devrim Kilinc and Pierre Dourlen, we observed that differential expression of BIN1 isoforms in the presynaptic part leads to differential synaptotoxicity. BIN1 isoforms could contribute to the synaptic loss observed in Alzheimer's disease. www.biorxiv.org/content/10.1...

BIN1 expression in the presynaptic compartment leads to isoform-specific synaptotoxicity

Alzheimer’s disease (AD) is characterized by a strong genetic predisposition and by an early loss of synaptic connectivity that strongly correlates with cognitive deficit. Some genetic determinants co...

biorxiv.org

Today, our article "The entities enabling scientific fraud at scale are large, resilient, and growing rapidly" is finally published in PNAS. I hope that it proves to be a wake-up-call for the whole scientific community. reeserichardson.blog/2025/08/04/a...

A do-or-die moment for the scientific enterprise

Reflecting on our paper “The entities enabling scientific fraud at scale are large, resilient, and growing rapidly”

reeserichardson.blog

A new EADB paper published in Nature Communications and led by Kristel Van Steen, Cornelia Van Duijn and Valentina Escott-Price. We report that machine learning methods have the potential to uncover novel loci that remain undetected by traditional GWAS in Alzheimer. www.nature.com/articles/s41...

Machine learning in Alzheimer’s disease genetics - Nature Communications

Here the authors apply machine learning approaches to Alzheimer’s genetics, confirm known associations and suggest novel risk loci. These methods demonstrate predictive power comparable to traditional...

nature.com

Here is a direct link to the open access article ‪@amit-das.bsky.social‬ mentions. alz-journals.onlinelibrary.wiley.com/doi/10.1002/... Tempting to say it feels like a miracle, but this progress always comes down to dedicated study participants, brilliant scientists, and reliably funded science.

The history of Down syndrome–associated Alzheimer's disease; past, present, and future

The landscape of Down syndrome–associated Alzheimer's disease (DSAD) research reflects decades of scientific endeavor and collaborative effort, charting a remarkable journey from initial observation...

alz-journals.onlinelibrary.wiley.com

Amit Das@amit-das.bsky.social · last yr.

This commentary from Maure-Blesa et al. captures the history of #downsyndrome -assoc. #alzheimers disease beautifully. It's been a long journey to get to this point, and there's still a long journey ahead as we push for prevention, but the reason to be hopeful has never been greater! bit.ly/3Hv6qG0

When I was a student, I dreamed of one day publishing in Trends In Neurosciences. So I'm proud that we had the opportunity to write an invited review on BIN1, a major genetic determinant of Alzheimer's disease that we've been working on for over 10 years. www.sciencedirect.com/science/arti...

BIN1 and Alzheimer’s disease: the tau connection

Bridging integrator 1 (BIN1) is a ubiquitously expressed protein that plays a critical role in endocytosis, trafficking and cytoskeletal dynamics. In …

sciencedirect.com

French Senator Claude Malhuret: "Washington has become Nero’s court, with an incendiary emperor, submissive courtiers and a jester high on ketamine... We were at war with a dictator, we are now at war with a dictator backed by a traitor."