From unsolved to explained: How gene discovery advances rare disease diagnosis

Erin Torti is a licensed, certified Genetic Counselor at GeneDx. She received her master's degree in genetic counseling from the University of Cincinnati and worked in pediatric genetics prior to joining GeneDx, where she has worked across genomic testing and research. She currently leads the GeneMatcher program, supporting global collaborations among clinicians and researchers to advance gene-disease discovery and generate evidence that improves rare disease diagnosis and patient care.

Flavia is a thought leader in genomic research, with a proven track record and passion for generating the evidence needed to achieve the promise of personalized medicine. During the course of her 20+ year career, she has worked as a clinician-scientist in hospital, academic, and industry settings. She has led strategic research programs and teams focused on translational work to bring cutting edge technology into practice, giving her a unique ability to understand the needs of patients, the concerns of those working in direct patient care, and the gaps in and overarching direction of the clinical genomics field. Her daily motivation is fueled by the extraordinary potential of genomic medicine to improve lives.

Dr. Thorhildur Juliusdottir is a statistical geneticist with more than 15 years of experience in human genetics research. She holds a doctorate from the University of Oxford and has held research positions at the Wellcome Trust Centre for Human Genetics, deCODE Genetics, and Genuity Science. Her research has focused on rare variant analysis, genetic association studies across complex diseases, and parental and fetal genetic effects on fetal growth, including a first-author publication in Nature Genetics. She is currently Director of Statistical Genetics at GeneDx, where she leads the development and application of large-scale gene- and exon-based burden analyses for rare disease gene discovery.