Confirming Mendelian Genetic Causes of Pediatric Food Allergy
Jeffrey SoRelle, MD
BACKGROUND: Food allergies affect 7.5% of children in the US with more than 40% experiencing severe reactions including life-threatening anaphylaxis. The cause of allergy has been strongly linked to genetics, yet several superficial, population based, genetic studies have failed to identify any genetic cause.
GAP: Comprehensive DNA sequencing (whole exome sequencing), has never been performed on children with food allergy. This method can detect Mendelian causes of allergy that have not been detected to this point.
HYPOTHESIS: Recently, we performed a genetic allergy screen in mice and found dozens of genes that regulate allergies in mice. We hypothesize mutations in these newly discovered genes that cause allergy in mice will also cause allergy in humans.
METHODS: Comprehensive DNA sequencing will be performed on children with multiple, severe food allergies and close relatives to pinpoint genes causing allergy. Children with multiple food allergies and a strong family history of allergy are more likely to have a genetic cause for their food allergy, so we will collect their DNA by blood or saliva sample.
IMPACT: Within a year of completing this study, a diagnostic genetic test could be implemented to improve diagnosis and support personalized medical treatment.
Website Link: https://mutagenetix.utsouthwestern.edu/home.cfm