Understanding how BRAF and RAF1 variants affect cell structure and signaling in a worm model
Official title: Investigation of RASopathy variants and Raf and Actin-Myosin regulation
Funded at University of Wisconsin Milwaukee · NIH-11354817 · Data updated 2026-11-12
This project studies how disease-linked changes in human BRAF and RAF1 genes alter Raf protein behavior and the cell’s skeleton using a worm model.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin Milwaukee NIH-funded |
| Lab location | 1 site (Milwaukee, United States) |
| Project start | June 1, 2026 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $144,064 |
| NIH project number | 1R03HD121999-01 |
| Project ID | NIH-11354817 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Noonan syndrome or Cardiofaciocutaneous syndrome caused by BRAF or RAF1 variants could benefit from future therapies informed by these results.
✕Less likely to help
Results may have limited immediate impact for individuals without these specific genetic variants or related conditions.
What this research studies
Researchers will use Caenorhabditis elegans strains with Raf variants that mirror human Noonan and Cardiofaciocutaneous syndromes to observe where Raf proteins go, how much is present, and how active they are inside living animals. They will also examine how hyperactive Raf affects Actin-Myosin networks and cytoskeleton organization, linking these cellular changes to potential drug targets. The goal is to identify cellular processes that could be blocked or modulated to treat RASopathy-related conditions. The work aims to inform future drug discovery by revealing distinct variant effects and shared disruptions in Raf signaling and cytoskeletal dynamics.
Why it matters
Potential benefit: If successful, findings could guide development of targeted therapies that modulate Raf signaling and cytoskeletal changes in children with RASopathy disorders.
How similar studies have gone: Prior work in C. elegans has shown that Raf variants can be studied in living animals with clear visualization of signaling and cytoskeletal changes, supporting this approach.
Where this research is happening
-
University of Wisconsin Milwaukee
Milwaukee, United States Active
Researchers
- Principal investigator: De la Cova, Claire — University of Wisconsin Milwaukee
- Study coordinator: De la Cova, Claire
Related research
Other NIH-funded projects on the same topics.
-
Metal-dependent protein phosphatases in Parkinson’s disease
A study to understand how a family of brain enzymes called phosphatases may protect neurons in people with Parkinson’s disease.
-
Stress and alcohol-related sexual assault in college students
A study with college students who drink heavily will look at how stress and daily factors relate to the chance of sexual assault happening in relation to alcohol use.
-
Neural training to improve stopping impulses in OCD and related conditions
A new computer-based training helps people with OCD, trichotillomania, or skin picking disorders improve their ability to stop automatic urges.
-
How stress and drinking relate to sexual assault risk among college students
This project looks at how heavy drinking and stress are linked to experiences of sexual assault among college students.
-
How social media images relate to suicidal thoughts in transgender teens
This project uses digital photovoice to learn how social media content seen by transgender and non-binary teens (ages 15–20) connects with feelings of self-harm or suicidal thoughts.
-
GABA-A receptor meds to treat chlorine-caused lung injury
Aims to test inhaled and injected GABA-A receptor–targeting medicines to reduce lung damage from chlorine exposure in people who might suffer acute lung injury.
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.