Primary disorders of the immune system are rare, but cause significant and sometimes fatal disease in children. One of the difficulties in treating these rare diseases is a lack of understanding about the molecular mechanisms of disease. Dr. Cooper's laboratory recently used whole exome sequencing to discover that a new primary immunodeficiency caused by the gene encoding STAT3, a key protein for regulating immune cell function, which led to targeted therapy for that child. The goal of this project is to use STAT3 as a model system to determine how changes in this gene alter the immune system and to identify additional defects in children with immunodeficiency, with the intention of providing personalized therapies to affected patients. Dr. Cooper's laboratory will:
Proposed specific aims
· Investigate the consequences of mutations in the STAT3 gene.
· Determine how increased STAT3 alters immune cells.
· Discover genetic defects in other patients with similar types of disease.
Potential impact on child health
These studies have the potential to guide treatment decisions for children by identifying how genetic changes impair the immune system, providing personalized precision therapy for this group of childhood diseases.