Jack Humphrey
@jack-humphrey.bsky.social
Genetics and omics of neurodegeneration in Mount Sinai, NYC. www.humphreylab.org
We are happy to announce the recount3 tracks for hg38 and mm10: uniformly processed RNA-seq data from multiple studies, featuring intron data, split read counts, and splice junction motifs for cross-study comparisons and meta-analyses. Learn more at: bit.ly/recount3_track
"Choosing problems is the primary determinant of what one accomplishes in science." 'Now What?' by Nobel Laureate John Hopfield should be required reading for aspiring scientists. pni.princeton.edu/document/1136
EVERY ALS MND scientific conference needs to allow for those with ALS MND who want to attend to be there in person or virtually. It is simply wrong to exclude them.
'Evidence suggesting that #microglia make #amyloid from neuronally expressed APP: a hypothesis' John Hardy & Patrick Lewis molecularneurodegeneration.biomedcentral.com/articles/10....
Evidence suggesting that microglia make amyloid from neuronally expressed APP: a hypothesis - Molecular Neurodegeneration
While APP is largely neuonally expressed, Aβ amyloid is largely produced by microglia as the clearance mechanisms for damaged membranes becomes overwhelmed.
molecularneurodegeneration.biomedcentral.com
With so many great tau researchers like @leatgrinberg.bsky.social @lucbuee.bsky.social @sjorsscheres.bsky.social @selinawray.bsky.social @karchlab.bsky.social on #SciSky could not help but put together my 1st starterpack⤵️ We are all fighting for you @curemaptftd.bsky.social 💙 go.bsky.app/KHno2VG
Happy to share our new study that was just published in Neuron! www.cell.com/neuron/fullt...
Seeded aggregation of TDP-43 induces its loss of function and reveals early pathological signatures
TDP-43 pathology characterizes neurodegenerative diseases. Scialò et al. use in vitro-generated and patient-derived TDP-43 aggregates as seeds to show that seed-induced TDP-43 cytoplasmic aggregation ...
cell.com
www.biorxiv.org/content/10.1... New work from Humphrey and Raj labs, exploring the role of RNA editing in myeloid cells. Hopefully will be a useful resource for the field. Next stop: genetics!
Cytosine-to-uracil RNA editing is upregulated by pro-inflammatory stimulation of myeloid cells
Myeloid cells undergo large changes to their gene expression profile in response to inflammatory stimulation. This includes an increase in post-transcriptional modifications carried out by adenosine-t...
biorxiv.org
Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in @naturegenet.bsky.social with @trajnp.bsky.social and @panosroussos.bsky.social @sinaibrain.bsky.social www.nature.com/articles/s41...
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing - Nature Genetics
This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and...
nature.com
Nice to see this finally published! Congratulations @jack-humphrey.bsky.social www.nature.com/articles/s41... (Collaborative work with Panos Roussos and his team! ) Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing - Nature Genetics
This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and...
nature.com
This is important! Satellite rallies too! Going sends a message. Not going also sends a message. It's not self-serving for scientists to protest the war on science. Millions of people depend on us. A huge thank you to the early career scientists who are leading this! 🧪 #standupforscience
Stand Up for Science!@standupforscience.net · last yr.It’s time to #standupforscience2025 - We’re making our voice heard about the importance of the American science ecosystem, and want you to join us. More information at www.standupforscience2025.org #scienceforall #sciencenotsilence
The Genomic Code: the genome instantiates a generative model of the organism www.cell.com/trends/genet... - really delighted to see this in print in @cp-trendsgenetics.bsky.social! 😊
The Genomic Code: the genome instantiates a generative model of the organism
How does the genome encode the form of the organism? What is the nature of this genomic code? Inspired by recent work in machine learning and neuroscience, we propose that the genome encodes a generat...
cell.com
I fear that my crew of junior scientists are going to be absolutely decimated. We did postdocs during the pandemic (I had a 1.5 year old with no childcare!). Somehow, we got through that only to be met with an unprecedented freezing of the NIH.
If you do GWAS or rare variant association studies, check out this short thread on the concept of SPECIFICITY, and why it is a major determinant of what we find:
Jeff Spence@jeffspence.github.io · 2y agoWhy do association studies prioritize trait-specific variants??? A quick thread about the importance of thinking about all traits at once 👇 1/6 (🧪🧬)
🧪Thanks to @rbaltman.bsky.social for having me on The Future of Everything podcast to talk about treatments for Alzheimer's disease. Give a listen if you're interested in an (anti)anti-amyloid antibody argument and some promising new drug targets. #Alzheimers engineering.stanford.edu/news/future-...
The future of Alzheimer's treatment
A neurologist who studies Alzheimer’s disease says hopes are on the rise for new treatments that target tau proteins.
engineering.stanford.edu
I've had a fantastic week in London meeting old friends and new back at Queen Square #UCL. Thanks to @adrianisaacs.bsky.social and @frattalab.bsky.social for letting me crash their Christmas parties and Johh Hardy for inviting me to give a talk.
