Investigating a potential treatment for Down syndrome using gene silencing techniques
Down Syndrome: a potential treatment XISTs
['FUNDING_R01'] · BETH ISRAEL DEACONESS MEDICAL CENTER · NIH-10525816
This study is looking at a new way to help people with Down syndrome by using a special technique to turn off one of the extra copies of chromosome 21, and it's being tested in mice that have similar traits to humans with the condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BETH ISRAEL DEACONESS MEDICAL CENTER (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10525816 on ClinicalTrials.gov |
What this research studies
This research focuses on Down syndrome, which is caused by the triplication of genes on chromosome 21. The study aims to explore a novel gene silencing method using modified CRISPR technology to target and silence one of the three copies of chromosome 21. By using a specific mouse model that closely mimics human Down syndrome, the researchers will assess the effectiveness of this approach in reversing neurological impairments associated with the condition. If successful, this could lead to significant advancements in treatment options for individuals with Down syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Down syndrome, particularly those experiencing cognitive and neurological challenges.
Not a fit: Patients without a diagnosis of Down syndrome or those who do not exhibit cognitive impairments may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option that may partially reverse neurological impairments in individuals with Down syndrome.
How similar studies have performed: While gene silencing approaches have shown promise in preliminary studies, this specific application in Down syndrome is novel and has not been extensively tested in clinical settings.
Where this research is happening
BOSTON, UNITED STATES
- BETH ISRAEL DEACONESS MEDICAL CENTER — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SHEEN, VOLNEY L — BETH ISRAEL DEACONESS MEDICAL CENTER
- Study coordinator: SHEEN, VOLNEY L
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: Alzheimer's Disease, Alzheimer disease, Alzheimer syndrome, Alzheimer's disease dementia, Alzheimers disease