Juan Carlos Cardet, MD

Nearly half of severe asthmatic patients are inadequately treated by existing, often expensive therapies, but investigating genetic variation may help better understand severe asthma and introduce more effective and cheaper therapies. Our group had previously found that variation in the RGS2 gene relates to having mild asthma. With the support of the ALA/AAAAI Allergic Respiratory Diseases Research Award we found that these same variants are risk factors for severe asthma attacks among non-Hispanic White patients with severe asthma, and that decreasing RGS2 makes airway cells behave more like asthmatic airway cells. We presented our work at the annual meeting of the AAAAI in February 2022 in Phoenix, AZ, and our manuscript was accepted for publication with the Journal of Allergy and Clinical Immunology. We are continuing to work towards our goal of finding genetic markers that can inform us whether there are existing therapies that work especially well in patients with those RGS genetic markers, and whether developing new therapies that target RGS molecules are even better for these patients.

Update: With the support of the ALA/AAAAI Allergic Respiratory Diseases Research Award we analyzed SARP3 genomics data and found that two RGS promoter variants, rs2746071 and rs2746072, were associated with a human airway smooth muscle hypercontractility phenotype and greater risk of severe asthma exacerbations among non-Hispanic Whites. We presented our results as an oral abstract at the annual AAAAI meeting last February 2022 in Phoenix, AZ, and are now in press with the Journal of Allergy and Clinical Immunology, PMID:35398411. We will now continue investigating the impact of RGS genetic variation which may ultimately optimize treatment options through personalized medicine.