By combining patient genetics with biochemical and cellular biology, we hope to transform variant discovery into biological insight and, ultimately, better understanding of neurodegenerative disease. #FTD #Tau #Neurodegeneration #Genomics

The future of precision neurology isn't just finding variants. It's determining what they do. That's the motivation behind the Holmes Lab VUS initiative: building a bedside-to-bench pipeline to functionally interrogate rare patient variants.

Variants of uncertain significance are one of the biggest challenges in neurogenetics. In this work, we identified a previously unreported MAPT mutation in a young patient with rapidly progressive FTD and generated functional evidence supporting pathogenicity. www.nature.com/articles/s44...

Proud to be a co-author on this new PNAS paper from the Wells Lab. Led by Kaan Kumru, this work expands the kineTAC platform into a versatile cytokine-based toolkit for cell and tissue-selective extracellular protein degradation—a major step forward for precision eTPD. www.pnas.org/doi/10.1073/...

Our new paper is out! Amyloid plaques switch on microglial GPC4, increasing neuronal tau uptake & toxicity—defining an amyloid→glia→tau pathway & a potential drug target. Pleasure to work with our collaborator @jcoutinhobudd.bsky.social. doi.org/10.1186/s130... #Alzheimers #Glia #Tau #Amyloid