Understanding Genetic Weaknesses to Severe Mycobacterial Infections
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial Disease
This project aims to uncover the genetic reasons why some children are more susceptible to severe infections from certain bacteria, like those found in BCG vaccines or the environment.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rockefeller University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11064034 on NIH RePORTER |
What this research studies
This project focuses on Mendelian susceptibility to mycobacterial disease (MSMD), a genetic condition that makes individuals, especially children, prone to infections from common bacteria like those in BCG vaccines or environmental sources. Researchers have already found 16 genes linked to MSMD, but many patients still have unexplained cases. This work seeks to identify new genetic causes for MSMD by studying the genes of affected individuals. The goal is to better understand why some people are more vulnerable and to find all the genetic factors involved.
Who could benefit from this research
Good fit: This research is relevant for children, particularly those aged 0-11 years, who have experienced severe or unusual infections from mycobacteria or similar pathogens.
Not a fit: Patients whose infections are not related to genetic predispositions or mycobacterial diseases would likely not directly benefit from this specific genetic research.
Why it matters
Potential benefit: If successful, this work could lead to better ways to diagnose MSMD earlier and develop new treatments for individuals with these genetic vulnerabilities.
How similar studies have performed: Previous genetic studies have successfully identified 16 genes linked to MSMD, providing a strong foundation for this continued investigation into unexplained cases.
Where this research is happening
New York, United States
- Rockefeller University — New York, United States (Active)
Researchers
- Principal investigator: Casanova, Jean-Laurent — Rockefeller University
- Study coordinator: Casanova, Jean-Laurent
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.