Jack Humphrey
@jackhumphrey_
Trying to understand neurological disease through genomics. Out-reacher. Occasional boulderer. Instructor at Mount Sinai.
ID: 3938693134
https://jackhump.github.io/ 12-10-2015 16:31:31
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We find TDP-43 loss to cause presynaptic defects, which are rescued by ASOs correcting a single cryptic exon in UNC13A. Surprising effect of just one cryptic exon and promising strategy for ALS! Matt Keuss Pete Harley in great collaboration with Juan Burrone Lab biorxiv.org/content/10.110…
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing Congrats Cyril, Fahri Küçükali and all authors! Another milestone for FTLD and TDP-43 genetics! medrxiv.org/content/10.110…
Follow the new MND Research account MND Research. Easily one of the best sources of ALS/MND research information in the world.
Very excited to receive funding from Target ALS for our international consortia between Friedman Brain Institute , UCL Queen Square Institute of Neurology and UK Dementia Research Institute at Edinburgh. Rickie Patani, Philip Hasel , Andrea Malaspina, really looking forward to working with you all!
Amazing work Daniele Mattei, PhD !
What causes PSP? Hadley Ressler's elegant new paper strongly supports evidence that 4Rtau mRNA synthesis going up is potentially a major driver: pubmed.ncbi.nlm.nih.gov/39154163/ Amazing work - congrats! #tau #psp The PSP Association Cure MAPT FTD CurePSP The Rainwater Charitable Foundation PSP Society of Canada Friedman Brain Institute
Eugenics today: Breeding for IQ. My essay is #3 in the Legacies of Eugenics series in the Los Angeles Review of Books lareviewofbooks.org/article/breedi…
Check out our new study describing how ATXN2 intermediate repeat expansions lead to ALS by using a large set of new models Nature Communications! rdcu.be/dSlOY UMC Utrecht ALS Nederland TNeuroscienceBrainCenter Utrecht University UMC Utrecht Hersencentrum