Multi-omic signatures of ALS-spectrum disorders (ALS)
Official title: Multi-omic signatures of ALS-spectrum disorders
Funded at Mayo Clinic Jacksonville · NIH-11362882 · Data updated 2026-11-12
Researchers will study the genetic and molecular changes in brain tissue from people with ALS and related conditions to understand why motor neurons die.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Jacksonville NIH-funded |
| Lab location | 1 site (Jacksonville, United States) |
| Project start | May 20, 2026 |
| Project end | April 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $622,792 |
| NIH project number | 1R01NS140081-01A1 |
| Project ID | NIH-11362882 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with ALS-spectrum disorders and available post-mortem motor cortex tissue for transcriptome analysis, including those with PLS or PMA phenotypes.
✕Less likely to help
Patients without access to post-mortem tissue or those not represented in the ALS spectrum may not directly benefit.
What this research studies
This project will examine ALS spectrum disorders by analyzing the transcriptome of motor cortex tissue from post-mortem samples using bulk and single-nucleus sequencing with long reads. The goal is to identify transcripts and pathways that distinguish UMN- from LMN-dominant phenotypes and to uncover cell-type–specific gene expression and splicing changes. By focusing on transcripts that are dysregulated in ALS variants, the study aims to reveal potential biomarkers and therapeutic targets for these devastating diseases. The work builds on existing knowledge of RNA-binding proteins and cryptic exons to map the molecular differences across ALS presentations.
Why it matters
Potential benefit: If successful, the findings could lead to new biomarkers and targets for therapies that slow progression or tailor treatments for different ALS phenotypes.
How similar studies have gone: Previous studies have shown that transcriptome and splicing changes are relevant in ALS, but this project advances by using long-read sequencing and cell-type–specific analysis.
Where this research is happening
-
Mayo Clinic Jacksonville
Jacksonville, United States Active
Researchers
- Principal investigator: Van Blitterswijk, Marka — Mayo Clinic Jacksonville
- Study coordinator: Van Blitterswijk, Marka
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.