Precision Medicine Studies: Examination of Variants within the Gene: SLC5A2

Tuesday, March 20, 2018 -
4:00pm to 5:00pm
Biotechnology Center Auditorium, 425 Henry Mall

Speaker Name: 

Jamie Fox, PhD

Speaker Institution: 

Center for Human Genetics, Marshfield Clinic Research Institute




As biobanks continue to grow and more and more human genomes are sequenced, our ability to detect relationships between genetic variants and diseases is at an unprecedented level. The exponential growth of biological data, including both genetic and health record data, has led to the development of association-based studies (GWAS and PheWAS) that paved the way for identifying links between genetic variations and the development of diseases. The focus of precision medicine is to not only identify associations, but to utilize these associations to guide additional studies that probe biological mechanisms both in vitro and in vivo, and translate the knowledge gained from these studies to clinical interventions that improve patient health care. My studies focused on a precision medicine project that identified and studied novel genetic variants within the gene SLC5A2. This gene produces a protein called Sodium Glucose Transport 2 (SGLT2) and is responsible for glucose reabsorption. This protein has recently become a popular target for type 2 diabetes therapeutics. Genetic variants within SLC5A2 were analyzed through mining of electronic health record data and genetic data, exome sequencing and cell-based functional assays. We are also currently designing human studies to analyze the inheritance pattern and biological defects in patients with SLC5A2 variants. It is hoped that results from these studies can provide valuable information that can guide and improve patient outcomes.