Regeneron

2

William Salerno

OFHS240115

The primary scientific goal of this research is to accelerate our understanding of the role of genetics in human health and disease to motivate translation to genetic medicines. This goal will be accomplished by applying large-scale human genetics to OFH data. We will enable the identification of new drug targets, the validation of existing targets and therapeutics, and the discovery of biomarkers that may correlate with treatment responses. This research will also advance methods for discovery and validation of genetic variants that impact human health and disease. Discoveries in human genetics and genomics have paved the way for significant advances in science and medicine. Examples include identifying genetic causes of rare diseases and the improvement in their diagnosis and management. These efforts also support the discovery of cancer-associated mutations, the development of therapies and diagnostics, and observations of rare variants conferring protection from disease. Such findings have led to the development of important new medicines, routine genetic testing, and many other applications in research and clinical settings. Genetics research is greatly improved by large and diverse resources like OFH, allowing novel and rare variation to better inform the development of genetic medicines for the full human population.

The impact of this study will be profound, helping to advance our understanding of the genetic drivers of disease manifestation and progression in large and diverse populations. To this end, this findings of this study will help enhance early detection and prevention of chronic disease while also improving greatly the discovery and development of diagnostic and therapeutic innovations.

Public Health Research

24/08/2024

18/08/2024