Daniel Rader
University of Pennsylvania, PA·Genetics
Large human genetic studies have flagged hundreds of regions of the genome linked to heart and blood vessel disease and to blood lipids such as cholesterol, but for most of these regions no one knows which gene is responsible or what it actually does. At the same time, promising laboratory discoveries often take years to reach patients.
- Fields
Genetics
Medicine & Clinical Research
Biochemistry
- Topics
lipid metabolism
plasma lipids
LDL cholesterol
- Grants
- 2 known grants, through May 2033
What they work on
- Build and refine a prioritized list of liver-expressed genes at genomic loci associated with both plasma lipid traits and at least one cardiovascular disease, by systematically ingesting and analyzing large-scale genome-wide association and sequencing data.
- Test which of these candidate genes are causally responsible, using cell-based systems, mouse models, and human studies to define the physiological and molecular mechanisms that raise or lower cardiovascular risk.
- Prioritize novel protein-coding variants associated with blood lipids and cardiovascular disease from public and private genomic datasets linked to patient phenotypes, to probe how protein structure relates to function.
- Compare the functional consequences of selected coding variants in model systems and in people who carry them, to connect specific amino acid changes to lipid traits and disease.
- Develop new approaches for creating and disseminating translational therapeutics through the Penn-CHOP Clinical and Translational Science Award Hub, and apply data science resources to support an academic learning health system.
- Integrate the hub with community and stakeholder partners for research with families across the lifespan, and educate, train, and retain a multidisciplinary clinical and translational science workforce.
More about the research
Two projects address these two bottlenecks: one works out the biology behind newly discovered lipid and cardiovascular genetic signals, and the other builds institutional machinery to move discoveries of all kinds into clinical use.
Why it matters
Peripheral arterial disease, abdominal aortic aneurysm, and aortic stenosis currently have no effective medical therapy, and most genetic signals linked to cardiovascular disease and blood lipids remain biologically unexplained. Identifying the causal genes and showing how specific protein variants change function could reveal new drug targets and a reusable roadmap for validating genomic discoveries. The translational hub aims to speed delivery of new therapies and expand the research workforce, with community-partnered studies intended to broaden who has access to research and care.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Laura James
University of Arkansas for Medical Sciences, AR·Medicine & Clinical Research
Develop, demonstrate and share translational science innovations that make it easier to move research through several stages of the clinical and translational research spectrum.
Richard D'Aquila
Northwestern University, IL·Medicine & Clinical Research
Expand and better train the clinical and translational science workforce, strengthen partnerships across the hub and its clinical affiliates, and improve research participation so study results generalize to broader patient populations (the IMPROVE aim).
Frederick Moeller
Virginia Commonwealth University, VA·Medicine & Clinical Research
Strengthen translational research workforce training across the partner institutions so that researchers can recruit a broad range of patient populations into clinical studies.
The school
University of Pennsylvania: 90 labs on PI Pages, $2.2B a year on research, 750 research doctorates a year.
Reach out
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