Dr. Sarah Baxter is a physician scientist working as a paediatric rheumatologist at Seattle Children’s Hospital. During her pediatric residency at Seattle Children’s Hospital and her time at the University of Washington, she saw firsthand how a genetic diagnosis could drastically alter care recommendations. For patients with immune deficiencies a genetic diagnosis could potentially mean targeted therapies or treatment options such as a bone marrow transplant.
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism’s complete set of DNA, including all of its genes. Dr Baxter believes that genomics holds promise as a means to elucidate the diverse pathways leading to immune dysregulation and autoimmunity in patients with rheumatologic diseases. She hypothesizes that children that develop childhood-onset lupus (cSLE) have genetic immune diseases. By identifying these genetic diseases, she intends to shed light on the biologic pathways that are crucial for effectively controlling lupus disease activity and preventing further damage.
In preliminary genetic analyses of children with lupus alongside their parents, Dr Baxter identified a gene that might be causing their disease. This gene had not previously been documented to cause disease in humans. Preliminary analyses of this gene showed that the mutations present in the children with lupus cause the protein to act differently: cells with a mutant protein grow differently, and mutant protein monomers cannot form a bond with each other.
As an ANRF scholar Dr Baxter’s objective is to map the genetic landscape of lupus and to clinically translate her findings in order to identify novel diagnostic and treatment options for Lupus patients. She aims to determine how the above-mentioned mutant protein alters the inflammatory response of cells. “I anticipate that genomic research will combine with future targeted therapies to transform the clinical landscape of lupus. Crucially, in patients with identified mutations, we will be able to precisely target the biologic pathway that is disturbed, and also improve our prognostication for each patient and their family members.”