#whole genome sequencing
An international team researchers, including University of California San Diego School of Medicine, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.
All of UsAdvances
Officially launched in 2018, the All of Us Research Program represents a massive, long-term effort to gather information from 1 million or more persons living in the United States, then use that data to accelerate health research and medical therapies. The biggest emphasis is upon gathering information on racial, ethnic and cultural groups who have historically been underrepresented or ignored in medical research.
Today, the sponsoring National Institutes of Health announced the release of the first genomic dataset generated by All of Us: nearly 100,000 whole genome sequences encompassing diverse individuals that can be used as a national resource for studies covering a wide variety of health conditions.
UC San Diego is part of the All of Us program, led by Lucila Ohno-Machado, MD, PhD, Distinguished Professor of Medicine, chair of the Department of Biomedical Informatics at UC San Diego Health, and associate dean for informatics and technology.
“As modern medicine seeks to become more precise and personalized, it necessarily requires more and more data to both understand the big picture of health and disease and, more specifically, how each person fits into the whole,” said Ohno-Machado. “With this first public genomic dataset, All of Us begins to meet its goals and expectations, allowing physicians and scientists to parse the mysteries and challenges of diseases across the health spectrum in new, individualized ways.”
— Scott LaFee
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