Exploring how non-coding regions of the genome affect diseases like sickle cell anemia.
Multiscale exploration of the functional non-coding genome
['FUNDING_OTHER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-10656290
This study is looking at parts of our DNA that don’t code for proteins but help control how our genes work, to better understand how they affect diseases like sickle cell disease and beta-thalassemia, with the hope of finding new treatments that are personalized for patients.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10656290 on ClinicalTrials.gov |
What this research studies
This research investigates the role of non-coding sequences in the genome, which are crucial for regulating gene expression and influencing disease severity. By using advanced techniques like CRISPR to perturb these non-coding elements, the study aims to uncover their functions and how genetic variations impact them. The goal is to enhance our understanding of these sequences at a detailed level, which could lead to new therapeutic strategies for conditions such as sickle cell disease and beta-thalassemia. Patients may benefit from insights that could inform future treatments tailored to their genetic profiles.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with sickle cell disease or beta-thalassemia.
Not a fit: Patients with conditions unrelated to genetic variations in non-coding regions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to novel therapies that improve treatment outcomes for patients with sickle cell disease and related conditions.
How similar studies have performed: Previous research has shown promise in understanding non-coding regions, but this approach using CRISPR is relatively novel and untested in this specific context.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PINELLO, LUCA — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: PINELLO, LUCA
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 below.
Conditions: Hb SS disease, HbSS disease, Hemoglobin S Disease, Hemoglobin sickle cell disease, Hemoglobin sickle cell disorder