Featured Publications

graphical representation of POMMS study

The Pediatric Obesity Microbiome and Metabolism Study (POMMS): Methods, Baseline Data, and Early Insights

Raphael Valdivia, Lawrence David, Holly Dressman, Christopher Newgard, Svati Shah and John Rawls and team analyzed clinical, metabolomic and microbiome samples from adolescents with obesity as they undergo lifestyle modifications.  

Read full text in Obesity

Study design. Participants meeting the eligibility criteria will be randomly allocated to one of three study groups: (1) metformin (850 mg bid), (2) fiber (supplemental fiber 35 g/day) or metformin plus fiber. Participants will be followed up for 12 months with clinical visits every 3 months. Abbreviations: ADP, air displacement plethysmography; BMI, body mass index; HOMA-IR, homeostatic model assessment of insulin resistance; T2DM, type 2 diabetes mellitus

Efficacy of metformin and fermentable fiber combination therapy in adolescents with severe obesity and insulin resistance

Christopher Newgard and Michael Freemark are part of an international team that is comparing metabolic effects of metformin and fermentable fibers in combination with those of metformin or fiber alone in adolescents with obesity. They will also determine if therapeutic responses correlate with compositional and functional features of the gut microbiome.

Read the study protocol in Trials

Overview of mutational signatures’ effects on TF binding affinity

Mutational processes in cancer preferentially affect binding of particular transcription factors

Raluca Gordan collaborated with Duke-NUS to develop the "Signature-QBiC" model that integrates signature profiles of mutational processes with the QBiC estimates of changes in binding affinity to investigate the effect of mutational signatures on the binding of 582 human transcription factors.

Read full text in PMC

Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

William Kraus and Beth Hauser were part of a large international team that performed GWAS studies for myocardial infarction to see if genetic factors that establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation.

Read full text in European Heart Journal


Pleiotropy and epistasis within and between signaling pathways defines the genetic architecture of fungal virulence

Paul Magwene, Joseph Heitman and team describe the genetic architecture of six traits in C. deneoformans and then used GWAS function-valued QTL mapping to identify genetic differences that underlie variation in those six traits. Their work illustrates the complex effects that variants may have with respect to virulence potential.

Read full text in PLOS Genetics


Validation of a host gene expression test for bacterial/viral discrimination in immunocompromised hosts

Several members from the Duke Center for Applied Genomics and Precision Medicine collaborated on a study that evaluated the performance of a host gene expression test to discriminate bacterial, viral, and noninfectious illness in immunocompromised patients. Although test performance was marginally lower than in immunocompetent patients, this approach may provide useful diagnostic information in this high-risk population.

Read full text in Clinical Infectious Diseases


Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction

Avshalom Caspi and Terrie Moffitt were part of a large, international team that used genetic correlation and polygenic score analysis to test if noncognitive skills influence educational and economic attainments and longevity and to investigate traits and behaviors that constitute noncognitive skills. They also conducted hypothesis-free bioinformatic annotation analysis with help from the Genomic Analysis & Bioinformatic core facility to explore the tissues, cell types and brain structures that might distinguish the biology of noncognitive skills from the biology mediating cognitive influences on educational attainment.

Read full text in Nature


Digital Health—The Need to Assess Benefits, Risks, and Value

Geoff Ginsburg, along with Eric Perakslis, published a viewpoint in JAMA about the potential for digital health -- wearable and internal devices, sensors in people, homes, communities and more -- to improve health management. However, the current state of technology development and deployment requires a "buyer beware" cautionary note. Ginsburg was also interviewed by JAMA editor-in-chief Dr. Howard Bauchner.

Read full text in JAMA          Listen to the interview


Air Pollution May Hasten Aging

A collaboration with DMPI, the departments of Biostatistics and Bioinformatics and Psychiatry and Behavorial Sciences, the division of Cardiology, UNC Chapel Hill, Georgia Tech, Durham VA, and EPA found that epigenetic age acceleration may be a biomarker of sensitivity to air pollution, especially traffic-related air pollution in urban cohorts. This research shows a new way to understand sensitivity to air pollution and provides a molecular measure of environmental sensitivity.

Read full text in Aging


Modeling statin myopathy in a human skeletal muscle microphysiological system

Deepak Voora led a collaboration between the Center for Applied Genomics and Precision Medicine and the Department of Biomedical Engineering that developed a "muscle on a chip" platform to study the effects of statin associated musculoskeletal symptoms.

Read full text in Plos One


CRISPR dCas9 used to program pluripotent stem cells into adult neuronal cells

A team of researchers at Duke University led by Dr. Charlie Gersbach has developed a new method to discover gene regulatory networks for programming stem cells to become any cell type. Their work, published today in Cell Reports, demonstrates the potential of the approach in making mature adult neuronal cells, but is broadly applicable.

Read full text on Cell Reports


RT-PCR-based 36-gene signature performance over time

Researchers in the Center for Applied Genomics and Precision Medicine assessed the ability of transcriptomic biomarkers to identify naturally acquired respiratory viral infection before symptoms appear.

Read full text in The Lancet


Novel Murine Models of Cerebral Cavernous Malformations

Doug Marchuk and team developed a genetic mouse model of cerebral cavernous malformations. 

Read full text in Angiogenesis


Identification of Undetected Monogenic Cardiovascular Disorders

A collaboration between DMPI, Division of Cardiology, Center for Applied Genomics and Precision Medicine as well as Regeneron Genetics Center and Vanderbilt Medical Center shows the large burden of undetected monogenetic cardiovascular disorders.

Read full text in the Journal of the American College of Cardiology