Researchers from the University of Virginia School of Medicine and Inova Health System have received seed grant funding from the Integrated Translational Health Research Institute of Virginia (iTHRIVE) to study a new biomarker for hereditary angioedema (HAE).
iTHRIVE is awarding up to $50,000 to early-phase research projects in Virginia through its Pilot Translational and Clinical Studies (PTC) Program. The awards, which also include projects at Virginia Tech and the Carilion Clinic, are intended to advance collaborative discovery and the application of translational medical investigations, according to a news release.
The angioedema project, “A novel biomarker for hereditary angioedema with implications for common vascular disorders,” will be led by Clint Miller, an assistant professor at the University of Virginia School of Medicine, and Natalie Hauser, an Inova Health System physician.
The researchers seek to build upon their identification of a new genetic mutation related to HAE. They plan to study the mutation’s effect on blood vessel function, which could result in improved diagnosis and treatment of the disorder as well as other vascular and heart diseases.
Hereditary angioedema is characterized by sudden and recurrent episodes of swelling in the face, tongue, hands, feet, gastrointestinal tract, genitalia and upper airways. It’s normally caused by genetic mutations in the SERPING1 gene, resulting in lower levels of C1 inhibitor in C1-INH-HAE type 1, or to a dysfunctional C1 inhibitor whose levels remain normal or elevated in type 2.
To date, more than 500 genetic mutations affecting SERPING1 have been described. Previous studies have tried to identify a link between mutation types and disease manifestations, but results have been spotty and difficult to analyze.
A study published last year in Annals of Allergy, Asthma & Immunology found that despite an increased risk of heart disease, patients with hereditary angioedema with C1-INH-HAE show normal blood vessel function. The study sought to determine whether such patients showed signs of abnormal function compared with healthy individuals.
The other iTHRIVE-funded projects include the study of microbiome-directed prevention of parenteral nutrition-associated liver injury, an intelligent virtual coach for self-training manual skills in laparoscopy, and transcranial-focused ultrasounds in essential tremor.
iTHRIVE is a collaboration of public and private institutions across Virginia that promotes shared resources and best practices, team science, community engagement and innovation. With the aim of speeding discovery and improving community health, it integrates data science approaches through all aspects of clinical translational research.