We weigh risks vs. benefits in fatal diseases—waiting for perfection shouldn’t delay life-saving therapies. Our framework guides research on CRISPR off-targets and clinical decisions.

Congrats to Ariella Angelini Stewart on her first, first-author publication!

www.nature.com/articles/s41...

This study shows GRN regulates phagocytic receptors MERTK and AXL in microglia, impacting FTD pathology. MERTK drops in CSF after symptom onset in GRN, MAPT, and C9orf72 cases, making it a promising biomarker. Thanks to all contributors who made this discovery possible.

Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD Communications Biology - Human, mouse and iPSC-derived microglia demonstrate that interaction between GRN and phagocytic receptors can rescue (MERTK) or worsen (AXL) FTD-disease features. CSF MERTK...

www.nature.com/articles/s42...

Discovery research in physiologically maintained deceased Expanded research opportunities in deceased humans require ongoing ethical inquiry

Our team is developing a platform to use physiologically maintained deceased to accelerate the discovery of delivery vectors. We anticipate this will save years in creating new gene therapies. An overview and the ethical considerations is now published in Science. www.science.org/doi/10.1126/...

nf-core/pacvar: a pipeline for analyzing long-read PacBio whole genome and repeat expansion sequencing data AbstractMotivation. Pacific Biosciences (PacBio) single-molecule, long-read sequencing enables whole genome annotation and the characterization of 20 compl

We have created an end-to-end bioinformatics pipeline to make analyzing PacBio single molecule sequencing data easier. It handles WGS and pure target. We use it for our C9orf72 gene therapy development. Well done Tanya, the talent data scientist who lead this work! academic.oup.com/bioinformati...

Will Elon return the billions in US grants and contracts Tesla and SpaceX receives or only block funds for hard working Americans? Is it legal to let the fox in the hen house?

We stand with our colleagues at the NIH, FDA and CDC. Promoting health and keeping our medicines safe is essential to us all and the well being of our country.

And having a genetic or rare fatal disease is not lucky

As an MS specialist I’m not surprised you’re not seeing familial FTD cases. There are 60k people in the US with FTD and that’s likely an underestimate given how often it is misdiagnosed. 1.8M people worldwide. 10% are MAPT mutation carriers. Actually not so few.

We believe in science.

A Woman With a Rare Gene Mutation Fights to Avoid Her Mother’s Fate (Gift Article) A mutant gene is coming to steal Linde Jacobs’s mind. Can she find a way to stop it?

This beautiful and moving story tells the story of Linde's fight to change the future of those with genetic FTD. We are working to create a CRISPR MAPT-FTD therapy and a better future for Linde and all with genetic neurodegenerative conditions. Thanks for sharing your story Linde!
shorturl.at/DOK1J