Dusan Bogunovic
Washington University in St Louis, MO·Genetics
Inborn errors of immunity are inherited diseases caused by defects in single genes, with more than 500 such genes known. Yet people carrying the same harmful mutation, even within one family, can be severely ill or entirely healthy.
- Fields
Genetics
Microbiology & Immunology
Medicine & Clinical Research
- Topics
inborn errors of immunity
primary immunodeficiency
monoallelic expression
- Grants
- 2 known grants, through Mar 2030
What they work on
- Identify all known inborn-error-of-immunity genes that show autosomal random monoallelic expression (aRMAE), where each cell reads only one randomly chosen gene copy.
- Dissect the epigenetic mechanisms, including chromatin marks, that establish and maintain aRMAE of immune genes across cell divisions.
- Determine how aRMAE shapes disease severity and incomplete penetrance in patients carrying mutations in immune genes.
- Store patient and family samples and perform bulk and single-cell DNA and RNA sequencing at standard and extraordinary depth for families with unexplained or incompletely penetrant immune disorders.
- Standardize and share sequencing data with the bioinformatics core and program projects to streamline downstream analysis.
More about the research
This puzzle, called incomplete penetrance, complicates diagnosis and care. Moreover, the genetic cause remains unknown in over 70% of affected families. The lab's projects address both problems, studying how gene expression choices inside cells can mask or reveal mutations, and generating sequencing data from patients and their families.
Why it matters
Families with inborn errors of immunity, which can cause severe infections, autoimmunity, allergy, autoinflammation or cancer, often cannot be told why one carrier is sick and another is not. Understanding monoallelic expression could help explain and eventually predict disease penetrance, while shared sequencing data could help find causes in the many unsolved families.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Joshua Milner
Washington University in St Louis, MO·Genetics
Quantify how existing immune-disease polygenic risk scores and known eQTL relate to disease severity in patient groups with JAK1/STAT3 or PI3 kinase/mTOR pathway disorders.
Erica Schmitt
Washington University in St Louis, MO·Microbiology & Immunology·Early-career
Define how STAT3 gain-of-function alters T-cell and B-cell development, polarization, and their interactions, using immunophenotyping and transcriptional analysis in a STAT3 GOF mouse model with viral infection.
Yanming Li
Baylor College of Medicine, TX·Genetics
Identify the aortic cell types in which TAAD-associated SNPs act, by integrating GWAS results with single-cell ATAC-seq maps of accessible chromatin from human aortic tissue.
The school
Washington University in St Louis: 97 labs on PI Pages, $1.2B a year on research, 365 research doctorates a year.
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