Joshua Milner
Washington University in St Louis, MO·Genetics
Some people carry a single gene variant that disrupts the immune system, yet they become very ill while others with the same variant stay healthy. More than 500 of these "genetic errors of immunity" are known, causing autoimmunity, inflammation, allergy, and infections.
- Fields
Genetics
Microbiology & Immunology
Medicine & Clinical Research
- Topics
inborn errors of immunity
primary immunodeficiency
genetic errors of immunity
- Grants
- 1 known grant, through Mar 2030
What they work on
- 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.
- Use flow cytometry on patient samples to measure how common pathway variation changes the amount and activity of JAK1/STAT3 and PI3K/mTOR signaling components.
- Test experimentally how common variants interact with rare disease-causing mutations, using a new base-editing tool that changes single DNA letters.
- Combine genomic, eQTL, and functional data to build new polygenic risk scores that predict specific disease features within individual immune disorders.
More about the research
Their unpredictability makes diagnosis and treatment difficult. Predicting who will become sick matters because treatments work much better when given before severe symptoms appear. Such treatments include targeted drugs and stem cell transplants.
Why it matters
Patients with inherited immune disorders and their doctors often cannot predict who will develop severe disease. Genetic scores that predict severity could guide when to start targeted therapies or stem cell transplantation, ideally before life-altering complications. The work could also reveal disease mechanisms and new diagnostic options for common immune-mediated diseases.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Dusan Bogunovic
Washington University in St Louis, MO·Genetics
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.
Penny Gordon-Larsen
University of North Carolina at Chapel Hill, NC·Public Health & Epidemiology
Identify gene-expression signals underlying severe obesity using whole-blood RNA sequencing from more than 15,000 people, and build ancestry-informed eQTL maps for underrepresented populations.
Sai Zhang
Yale University, CT·Genetics
Develop a sequence-based deep learning model, trained on single-cell and individual-level data, that predicts gene expression from DNA sequence and estimates how genetic variants alter gene activity in each cell type.
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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