Genetics, genomics and proteomics
David Fernandez, MD, PhD
Hospital for Special Surgery
New York, NY, United States
Disclosure information not submitted.
Grant Schulert, MD,PhD
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Disclosure(s): Boehringer-Ingelheim: Speaker/Honoraria (includes speakers bureau, symposia, and expert witness) (Terminated); IpiNovyx: Grant/Research Support (Ongoing); SOBI: Speaker/Honoraria (includes speakers bureau, symposia, and expert witness) (Ongoing)
Session
Description: This session will focus on a recently proposed and defined new terminology, genetically transitional disease (GTD), which refers to diseases or disease status where a gene mutation is necessary, but not sufficient, to cause disease. This leads to a working disease nosology based on gradients of four types of genetic architecture: monogenic, polygenic, GTD, and mixed. This session will examine GTD applicability in evaluating autoinflammatory diseases, which are associated with mutations in the same gene that have highly variable presentation due to a combination of heterogeneous mutational effects, background genetic modification, and environmental exposures. The implications for clinical decision-making and treatment decisions in autoinflammatory diseases will be explored.
Speaker: Ivona Aksentijevich, MD – National Human Genome Research Institute, NIH
Speaker: Joshua Milner, MD – Columbia University Medical Center