Genomic Medicine

At Scripps Translational Science Institute (STSI) we use cutting edge genomic technologies in our effort to bridge the gap between discovery, translation, and treatment. By leveraging the remarkable progress being made in genomics, our studies seek to find underlying genetic causes for cancer, cardiovascular disease, rare disease, infectious diseases, and many other conditions. We focus on translational studies with immediate relevance to human health and with tremendous potential for innovation.

MyGeneRank

The goal of the MyGeneRank study is to determine how your genetic risk influences health decisions. The study utilizes a free mobile app that enables users with 23andMe data to calculate their genetic risk score for coronary heart disease (CAD).

Idiopathic Diseases of Man

The IDIOM study uses cutting edge genome sequencing technology to collect genetic data from adult and pediatric patients with an idiopathic disease – serious, rare health conditions that defy a diagnosis or are unresponsive to standard treatments.

Healthy Aging – Wellderly

The Wellderly study seeks to unlock the genetic secrets behind lifelong health, using whole-genome sequencing.

Molecular Autopsy

This study seeks to incorporate genetic testing into the postmortem examination of cases of sudden unexplained death. Genetic testing of the index subjects and their parents are assessed for potential heritable causes of sudden death.

Infectious Diseases

Researchers at STSI are using infectious disease genomics to investigate and track outbreaks caused by highly pathogenic viruses such as Ebola and Zika. They are also developing fast diagnostic platforms to test for multiple pathogens simultaneously.

Heart Disease

Scientists at STSI are conducting a number of studies on Coronary Artery Disease (CAD) and Atrial fibrillation (AFib). Research includes the use of induced Pluripotent Stem Cells in combination with genome editing technologies to determine the impact of specific genetic variants linked to CAD, and determining genetic risk scores for AFib.

Essential Tremor & Parkinson’s Disease

The aim of the Genetic & Digital Diagnosis of Essential Tremor & Parkinson’s Disease (GAGDET-PD) trial is to determine whether essential tremor, a benign tremor disorder, and Parkinson’s Disease, a neurodegenerative disorder, can be differentiated via combined genetic testing and monitoring of tremors with a wristwatch-like accelerometer device.

Cancer

STSI has launched several studies aiming to provide a more complete characterization of circulating tumor DNA, and to explore the potential use of circulating DNA for the diagnosis of difficult to detect tumors, such as colorectal and ovarian cancer.

Eric Topol, MD

That each of us is truly biologically unique is not fully appreciated. Now that it is possible to perform a comprehensive “omic” assessment of an individual, it has become abundantly clear that each of us has truly one-of-a-kind biological content.

Eric Topol, MD

Director, Scripps Translational Science Institute