Participate in Research
Have you or a loved one been diagnosed as a genetic carrier of CAPRIN1?
We would love you to join our research study. Sharing your diagnosis helps us understand the prevalence of CAPRIN1, making it easier to get vital funding for research. Your experiences and insights matter and will help improve support and guide future research efforts.
About the Research Study
The CAPRIN1 research study aims to understand the role of CAPRIN1 in genetic conditions and how it affects individuals who are carriers. This includes obtaining an understanding of the phenotypic effects of the mutation and its variability by comparing individuals who have been identified as carriers.
Participants will be asked to provide genetic samples, which will be analyzed by the research team through laboratory testing and further investigations. These samples will help researchers gain valuable insights into genetic factors related to the condition being studied. By taking part, individuals contribute to advancements in medical science, potentially leading to improved treatments and a better understanding of the disease. All genetic data will be handled with strict confidentiality and used solely for research purposes to ensure privacy and ethical integrity.
Eligibility
To participate, you will need to be:
- A confirmed genetic carrier of CAPRIN1.
- Willing to provide genetic samples and participate in study interviews or surveys.
- Partake in discussions relating to potential trials and interventions including monitoring and observation of symptoms/traits.
How to Participate
You can sign up in just a few easy steps:
- Fill out the online participation form below.
- Provide consent for genetic testing and study participation.
- Our research team will schedule a meeting with you to discuss next steps.
Our research team is focusing on newly discovered molecules called long non-coding RNSa (lncRNAs) found near the CAPRIN1 gene.
These molecules do not produce proteins but can act as switches that turn genes “up” or “down.” Early results from our lab show that several of these lncRNAs are active in human neurons and may reduce the levels of CAPRIN1. We believe that in healthy carrier parents, these lncRNAs are naturally balanced in a way that compensates for the faulty gene—protecting them from the disease. If this is true, we may be able to recreate this protective effect as a therapy.
To achieve this, we grow human neurons derived from stem cells, including cells from patients, and use state-of-the-art tools to study how the lncRNAs control the CAPRIN1 gene. We will then test whether reducing these lncRNAs can restore normal CAPRIN1 levels. Similar approaches are already being tested in other childhood neurological conditions, showing promising results.
Ultimately, this research aims to transform a unique biological clue—the existence of unaffected carrier parents—into new therapeutic treatment for children living with this rare and challenging disorder.
