Splicing errors in TDP-43 proteopathies lead to production of new proteins that could prove valuable biomarkers of the disease. #amyotrophiclateralsclerosis, #frontotemporaldementia, #alzheimersdisease, #latenc @NINDSnews UCL @mayoclinic @johnshopkins ow.ly/Iuk750MJEzH

In the interest of trying to make science more accessible (e.g. writing something my family will understand) I wrote a lay summary of our recent work on the UNC13A cryptic exon - check it out here! bit.ly/3HB4V5i

journals.plos.org/plosbiology/ar… so excited our next manuscript is coming out! PLOS Biology Dr Koike (@Petrudelli lab) did a wonderful job from and Virginia Estades Ayuso from PrudencioLab

A 🧵 on some of my intuitions/priors about the genetics of complex and molecular traits in humans (i.e. what I think of as typical), largely motivated by GWAS/QTL studies over the past decade [citing papers with nice figures where possible]

Incredibly stimulating and inspiring experience!

Move over APOE3 Christchurch—a new protective variant has arrived. A point mutation in the ApoE receptor-binding Reelin enabled two siblings to stave off their autosomal-dominant #Alzheimers for 20 years past expected age of onset. Universidad de Antioquia MassGeneral News ow.ly/vMkl50OpK6I

I'm excited today to share my first publication in Nature Reviews Neuroscience! lnkd.in/g5yUhDdg. We discuss evidence of the roles of splicing defects in major neurodegenerative diseases. We also summarize advances in RNA therapeutic strategies to treat them.

✨✨ New Package ✨✨ Happy to announce that I am soft launching another R color palette package, {MoMAColors} today! Currently has 35 palettes based around artwork at MoMA The Museum of Modern Art. Download Instruction and Palettes here: github.com/BlakeRMills/Mo… #r4ds #dataviz #rstats

Grateful for the opportunity to share my dissertation work NIHOxCam at such a fantastic meeting!

Only 0.5% of neuroscience studies look at women’s health. Here’s how we can change it, explains Emily G. Jacobs 🦋 @emilyjacobs.bsky.social in a @nature world view about the Ann S Bowers Women's Brain Health Initiative, of which she is the director nature.com/articles/d4158…

Breaking down #Alzheimers disease into 5 subtypes by proteins in cerebrospinal fluid, with distinct genomic profiles and molecular processes nature.com/articles/s4358… Nature Aging Pieter Jelle Visser MD PhD Betty Tijms

A team at NINDS finds loss of the protein TDP-43—a hallmark of #ALS and #frontotemporaldementia—leads to expression of de novo proteins from mis-spliced transcripts, providing a potential disease mechanism. Sahba Seddighi M W FrattaLab scim.ag/5Fv

News: Abnormal proteins found in the spinal fluid of people with ALS and frontotemporal dementia nih.gov/news-events/ne…

We currently lack biomarkers for TDP-43, a protein that aggregates in ALS, FTD, and AD. We discovered that mis-spliced RNAs downstream of TDP-43 dysfunction are sometimes translated into abnormal proteins. These are present in patient biofluids, enabling future TDP-43 biomarkers.

Congratulations to Sahba Seddighi from University of Oxford, who is awarded the Jean Corsan Prize for the best scientific paper published by a PhD student! 👏 #ARUKConf24 📸: Rebecca Oliver