Finding genetic causes of rare diseases by combining whole genomes and gene activity across blood cell types
Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients
We combine whole-genome and gene-expression data from several blood cell types to uncover hidden genetic causes in people with rare diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11298961 on NIH RePORTER |
What this research studies
Researchers will analyze whole-genome sequences and RNA data from platelets, neutrophils, monocytes, and CD4+ T-cells collected from about 1,000 people with rare conditions, focusing on roughly 300 cases with platelet-related issues. They will apply new statistical and computational methods that use signals across multiple cell types to find variants missed by standard genome analysis, including structural changes and effects on gene regulation or splicing. The team will also use experimental validation to confirm likely disease-causing changes. The goal is to provide diagnoses for people whose genetic cause was not found by usual testing.
Who could benefit from this research
Good fit: Ideal candidates are people with undiagnosed rare diseases who have whole-genome data and can provide blood samples or have existing RNA-seq from blood cell types.
Not a fit: People without available blood samples or whose condition is unrelated to blood cell biology may not benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could help more people with rare diseases receive a genetic diagnosis and inform personalized care.
How similar studies have performed: Combining genomes and transcriptomes has shown promise in prior work, but integrating multiple purified blood cell types with advanced Bayesian methods is relatively new.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Turro, Ernest — Icahn School of Medicine at Mount Sinai
- Study coordinator: Turro, Ernest
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.