Investigating how DNA damage and repair mechanisms are altered in ALS and frontotemporal dementia.

Who could benefit from this research

What this research studies

This research focuses on understanding the mechanisms behind DNA damage and defective repair in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It examines the role of the FUS protein in protecting the genome and how mutations in this protein lead to impaired DNA repair processes. By utilizing advanced techniques like CRISPR/Cas9, the study aims to correct these mutations in patient-derived cells, potentially restoring normal DNA repair functions. The findings could pave the way for new therapeutic strategies targeting genome repair in neurodegenerative diseases.

Why it matters

Where this research is happening

• Methodist Hospital Research Institute
  Houston, United States Active

Researchers

• Principal investigator: Hegde, Muralidhar L — Methodist Hospital Research Institute
• Study coordinator: Hegde, Muralidhar L

Related research

Other NIH-funded projects on the same topics.

• Investigating new treatments for frontotemporal dementia and ALS using gene editing

  This study is looking at ways to help people with frontotemporal dementia and ALS by using a special gene-editing tool to fix a harmful gene that causes these diseases.

  NIH research J. David Gladstone Institutes · San Francisco, United States · NIH-11089394

• C9orf72 ALS/FTD Prevent: prepping for future treatment

  This grant aims to get ready for a preventive treatment for people who carry the C9orf72 genetic change that can lead to ALS or frontotemporal dementia.

  NIH research University of Miami School of Medicine · Coral Gables, United States · NIH-11431628

• Understanding how a genetic repeat causes harmful protein production in ALS/FTD

  Aimed at uncovering how a genetic repeat in the C9orf72 gene triggers abnormal protein production that damages nerve cells in ALS and FTD.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11384771

• How C9orf72 RNA repeats make toxic proteins in ALS and FTD

  This research looks for how a repeated RNA sequence in the C9orf72 gene creates toxic proteins that can harm people with ALS or FTD.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11194424

• Cell and tissue changes that lead to sporadic ALS and frontotemporal dementia

  This project looks at how physical changes inside cells and in their tissue can make TDP‑43 protein clump in people with sporadic ALS and frontotemporal dementia.

  NIH research Columbia University Health Sciences · New York, United States · NIH-11163326

• Understanding how certain genetic repeats cause neurodegenerative diseases

  This study is looking into how a specific genetic change in the C9orf72 gene causes harmful proteins to form, which are linked to ALS and Frontotemporal Dementia, and it aims to understand how this happens in nerve cells to help find better ways to tackle these conditions.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11024129

About this research

1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.