Seema Patel
Emory University, GA·Microbiology & Immunology
People with hemophilia A lack a working version of factor VIII, a protein the blood needs to clot, and are treated with regular infusions of the missing protein. Because their bodies never made normal factor VIII, the immune system can treat the infused protein as foreign and produce antibodies against it.
- Fields
Microbiology & Immunology
Genetics
Medicine & Clinical Research
- Topics
hemophilia A
factor VIII
FVIII inhibitors
- Grants
- 1 known grant, through Jun 2027
What they work on
- Map genetic regions controlling the antibody response to factor VIII by immunizing Diversity Outbred mice, bred from eight inbred founder strains, and running quantitative trait locus analysis on antibody phenotypes.
- Identify genetic regulators of the B-cell response to factor VIII, measuring B-cell phenotypes within the immune response and testing which pathways of antibody production are under genetic control.
- Narrow mapped loci to candidate causal variants in coding regions, regulatory elements or predicted splicing sites, using founder-strain genome sequences and a genotyping platform that assigns each segment to its parental strain.
- Evaluate whether the identified genes could support a predictive clinical test for which hemophilia A patients will form anti-factor VIII antibodies or benefit from immune tolerance induction.
More about the research
These antibodies neutralize the protein or clear it from circulation quickly, leaving patients unable to benefit from treatment and at higher risk of bleeding, illness and death. Only some patients develop them, and why remains unclear. This project asks whether the answer lies in the patient's own genetic makeup.
Why it matters
Anti-factor VIII antibodies are the main obstacle to treating hemophilia A, and they also threaten gene therapies that aim to cure the disease by making the body produce factor VIII itself. Knowing which genes drive this immune response could yield a test that flags high-risk patients before treatment begins, guide who should receive immune tolerance induction, and identify targets for drugs that prevent the antibodies from forming.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
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The school
Emory University: 70 labs on PI Pages, $1.2B a year on research, 286 research doctorates a year.
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