Improving outcomes through precision medicine for adults with primary immunodeficiency

Primary immunodeficiencies (PIDs) are a group of conditions in which part of the immune system is either missing or does not function normally. Those affected by PIDs may suffer from recurrent infections, autoimmune disease (where the immune system attacks the body's own tissues), and certain cancers. These conditions are not rare; affecting 1:2,000 to 1:10,000 people, with nearly half of cases diagnosed in adulthood. Too often, adults with PIDs undergo a painful journey that spans decades in search of a diagnosis. Without knowing the cause of their immune deficiency, adults with PIDs may not receive life-changing treatment. 

Our research program will address these challenges using precision medicine: an exciting way of identifying the cause of the disease and finding treatments that specifically target the underlying problem. We will perform next generation sequencing, a method to quickly read genetic material, on adults with PIDs where the underlying cause is undiagnosed. If a new change in a gene (mutation) is identified, we will perform specialized experiments to prove that the mutation is indeed responsible for the patient's symptoms. We will then look for targeted treatments to address the specific cause of that patient's illness. 

By harnessing the power of personalized genetics and precision medicine, our goal is to improve outcomes for adults suffering from PIDs.