Exploring genetic changes in mitochondrial diseases using blood samples
Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease
['FUNDING_CAREER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11064077
This study is looking for easier ways to check for mitochondrial disorders by using blood samples instead of more invasive procedures, so that people with these rare genetic diseases can have better monitoring and understanding of their condition.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11064077 on ClinicalTrials.gov |
What this research studies
This research investigates mitochondrial disorders, which are rare genetic diseases affecting energy production in cells. The study aims to develop new methods to analyze genetic material from blood samples instead of invasive biopsies, making it easier to track disease progression. By examining both mitochondrial and nuclear genes simultaneously, the researchers hope to identify specific patterns of genetic damage that correlate with the severity of the disease. This innovative approach could lead to better understanding and monitoring of mitochondrial diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with mitochondrial disorders or those exhibiting symptoms related to these conditions.
Not a fit: Patients with non-genetic or unrelated metabolic disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic tools and monitoring methods for patients with mitochondrial diseases.
How similar studies have performed: Previous research has shown promise in using blood samples for genetic analysis in other conditions, suggesting potential success for this novel approach in mitochondrial diseases.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WALKER, MELISSA ANNE — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: WALKER, MELISSA ANNE
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.