Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ???

I didn’t initially either, but here is the story of RNU4-2 🧵1/9

How do we effectively measure disease modifying effects in progressive diseases like Alzheimer's?
We are going to need a lot more work rethinking along these lines for measuring the effects of #longevity interventions

nature.com/articles/d4158… highlights great work from medical…

What if disease-modifying therapies for #Alzheimers were evaluated by 'time saved' rather than slowed rates of cognitive decline?

Suzanne Hendrix Pentara, Lars Lau Raket, Geert Molenberghs KU Leuven, John Harrison & Ron Petersen, M.D.

nature.com/articles/d4158…

Now the proofread version of our paper is available online. It is among the handful of papers that I am most proud of having contributed to! I think it really shows that it is just a matter of time until plasma ptau217 will revolutionize the diagnostic work-up of AD globally.

🚨🚨 PAPER ALERT🚨🚨
Happy and proud to be part of this! Thank you, Lars Lau Raket, for bringing this work to fruition!

📢 New study

Association between clinical dementia rating and clinical outcomes in Alzheimer's disease

doi.org/10.1002/dad2.1…

📢New study

Relationships of change in Clinical Dementia Rating on patient outcomes and probability of progression: observational analysis

doi.org/10.1186/s13195…

📢 New study
🧠🩸Predictive value of individual serum neurofilament light chain levels in short-term disease activity in relapsing multiple sclerosis frontiersin.org/journals/neuro…

‼️New preprint‼️
🔗Led by PhD student Sophie Mastenbroek, we unveil three different progression patterns of Lewy body pathology. Disease progression modeling of:
* Postmortem Lewy-type α-synuclein data from 10 🧠 regions
* N=814 donors
👇👇👇
biorxiv.org/content/10.110…

We evaluated the biological variation of 🩸 p-tau (217, 231, 181), Aβ, NfL and GFAP weekly over 10 weeks in healthy individuals aged 40-60.

An important read for anyone interested in AD 🩸 biomarkers - there’s much more we need to know beyond AUC’s!

alz-journals.onlinelibrary.wiley.com/doi/full/10.10…

Are you interested in Alzheimer's disease and other dementias, with specific interest in genetics🧬?
Would you like to be part of a team that does cutting-edge research?
We have a post-doc (lu.varbi.com/en/what:job/jo…) and a PhD (lu.varbi.com/what:job/jobID…) position available!

👉 SAVE THE DATE: The UGOT/UCL/BBRC “Biomarkers for neurodegenerative diseases” course will take place in Gothenburg on May 20-24, 2024.

Also very excited to announce our new sponsor:
Gates Ventures Niranjan Bose!

More info coming soon!
Ross Paterson Aitana Sogorb Marc Suárez-Calvet 🧠🧪 🩺🌈