Stephen S. Rich

About

Professor Stephen S. Rich is a faculty member in the Department of Genome Sciences at the University of Virginia School of Medicine. He holds a PhD in Genetics from Purdue University and is engaged in research centered on understanding the genetic epidemiology of complex human diseases. His research focuses on identifying genes that contribute to conditions such as atherosclerosis, stroke, and related risk factors. Dr. Rich's work involves gene mapping, gene discovery, and exploring the functional significance of gene variants, utilizing extensive datasets from studies like the Multi-Ethnic Study of Atherosclerosis (MESA) and others. His research aims to uncover novel genes and pathways that can serve as predictors of disease risk, identify individuals at highest risk, and develop models of disease for potential therapeutic intervention. Dr. Rich employs various genetic analysis methods, including candidate gene studies, genome-wide association scans, and linkage analyses, to investigate the genetic basis of cardiovascular diseases and stroke susceptibility. His contributions are integral to advancing the understanding of genetic factors in complex human diseases.

Research topics

• Biology
• Genetics
• Medicine
• Endocrinology
• Evolutionary biology
• Computational biology
• Internal medicine
• Political Science
• Demography
• Pathology

Selected publications

• New insights into the genetic etiology of Alzheimer’s disease and related dementias

  Nature Genetics · 2022 · 2403 citations

  Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted mi…

  DOI

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

  Nature · 2021 · 2261 citations

  . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…

  DOI

• A genomic mutational constraint map using variation in 76,156 human genomes

  Nature · 2023 · 1281 citations

  PublisherOA PDFDOI

• A structural variation reference for medical and population genetics

  Nature · 2020 · 1149 citations

  and will have broad utility in population genetics, disease-association studies, and diagnostic screening.

  DOI

• A saturated map of common genetic variants associated with human height

  Nature · 2022 · 877 citations

  ) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than a…

  DOI

Recent grants

• NIH Grant RC1HL099911

  NIH · $1.0M · 2012

• NIH Grant UC2HL103010

  NIH · $1.5M · 2013

• NIH Grant RC2HL103010

  NIH · $817k · 2011

Frequent coauthors

• Bradford B. Worrall

  1924 shared

• Donna K. Arnett

  University of Charleston

  1714 shared

• James F. Meschia

  Mayo Clinic in Florida

  1706 shared

• Myriam Fornage

  The University of Texas Health Science Center at Houston

  1669 shared

• Braxton D. Mitchell

  1543 shared

• Cecilia M. Lindgren

  1443 shared

• Cathy C. Laurie

  University of Washington

  1393 shared

• Vincent Thijs

  University of Melbourne

  1390 shared

Education

• Postdoctoral Research Associate, Animal Sciences

  Purdue University

  1981

• Ph.D., Animal Sciences

  Purdue University

  1979

• M.S., Animal Sciences

  Purdue University

  1975

• B.S., Mathematics

  North Carolina State University

  1973

Similar researchers at University of Virginia

• Josyf (Joe) C. Mychaleckyjh-63
• Suna Onengut-Gumuscuh-51
• Charles R. Farberh-48