Featured Publications

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Altered skeletal muscle metabolic pathways, age, systemic inflammation, and low cardiorespiratory fitness associate with improvements in disease activity following HIIT in persons with RA

William Kraus, David Bartlett, Kim Huffman and team identified connections between skeletal muscle molecular pathways, rheumatoid arthritis (RA) disease activity, and RA disease activity improvements following high intensity interval training.

Read full text in Arthritis Research & Therapy 

This figure shows the prevalence of obesity (defined as BMI ≥ 30 kg/m2) in heterozygous carriers of pLOF variants in GPR75, noncarriers, or heterozygous carriers of pLOF variants in MC4R within quintiles of a genome-wide polygenic score for higher BMI. P values for interaction between the polygenic score and rare pLOF variants on body mass index were 0.09 and 0.85 for GPR75 and MC4R, respectively. Error bars represent 95% confidence intervals.

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

William Kraus and Svati Shah were part of a large collaboration that sequenced over 640,000 exomes from people in the US, UK and Mexico to estimate associations of rare coding variants with body mass index (BMI). They found that inhibiting GPR75 may be a therapeutic strategy for obesity.

Read full text in Science

Manhattan plot for discovery phase.

Genome-Wide Variants Associated With Longitudinal Survival Outcomes Among Individuals With Coronary Artery Disease

William Kraus, Elizabeth Hauser, Carol Haynes and team used a genome-wide screening approach to identify gene variants associated with all-cause mortality among individuals with clinically phenotyped coronary artery disease.

Read full text in Frontiers in Genetics 

Metabolomic profiling identifies complex lipid species and amino acid analogues associated with response to weight loss interventions

Laura Svetkey, Chris Newgard, William Kraus and Svati Shah worked to identify metabolic biomarkers associated with beneficial metabolic changes to weight loss that identify individuals with obesity who would most benefit from a given type of intervention.

Read full text in Plos One


An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility

A team at Duke featuring Ricardo Henao, Micah McClain, Ephraim Tsalik, Geoff Ginsburg, Xiling Shen, Chris Woods, Beth Hauser and Dennis Ko created an interactive web database that helps explore and quickly analyze user-uploaded GWAS summary statistics. The database generated novel hypotheses to explain the pathophysiology of common diseases. 

Read full text in Genome Medicine


Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Nenad Bursac, Dwight Koeberl, Priya Kishnani and team developed a 3-D model of infantile-onset Pompe disease that demonstrates the signature pathological features of the disease.

Read the full text in Nature


Mucosal Associated Invariant T Cell Responses Differ by Sex in COVID-1

A collaboration including Ephraim Tsalik, Micah McClain, Chris Woods, Xilng Shen and other Duke faculty carried out sex-balanced sampling of peripheral blood mononuclear cells from confirmed 30 COVID-19 inpatients and outpatients, uninfected close contacts, and healthy controls for 36- 31 color flow cytometry and single cell RNA-sequencing.

Read full text in Med


A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

Nephrotic syndrome (NS) is a kidney disorder that causes the body to pass too much protein in its urine. Rasheed Gbadegesin and team conducted whole-genome sequencing on 320 individuals of unclear genetic etiology and analyzed data from several patient cohorts to gain insight into the genetic architecture of the condition. 

Read full text in JASN


CHG Bathing Reduces Number of Bloodstream Infections in Adults Undergoing Inpatient Hematopoietic Cell Transplantation

Anthony Sung, Julia Messina, Sin-Ho Jung, Li Ma and team conducted a prospective cohort study with historical controls to assess the impact of chlorhexidine gluconate bathing on the rate of bloodstream infections and gut microbiota composition among adults undergoing inpatient HCT at the Duke University Medical Center. 

Read full text in Transcriptional and Cell Therapy


Clinical implementation of an oncology‐specific family health history risk assessment tool

Ryanne Wu, Geoff Ginsburg, Lori Orlando and colleagues used MeTree, a patient-facing family health history risk assessment platform, in a pilot study to test its impact in an oncology setting.

Read full text in Hereditary Cancer in Clinical Practice


In vivo proximity labeling identifies cardiomyocyte protein networks during zebrafish heart regeneration

Ken Poss and team used a transgenic BioID2 strategy to capture cell-specific proteome changes in cardiomyocytes during heart regeneration in adult zebrafish. 

Read full text in eLife


Benchmarking DNA isolation kits used in analyses of the urinary microbiome

Cindy Amundsen and Nazema Siddiqui collaborated with Oregon Health and Science University and the University of Alabama in Huntsville to compare the performance of several DNA isolation kits used in microbiome studies to see if recovered microbes identified by 16S rRNA sequencing differ based on the DNA isolation protocol.

Read the full text in Scientific Reports


Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression

The Proteomics & Metabolomics Core Facility and Jessica Tennenbaum were part of a large collaboration that used a targeted metabolomics approach utilizing a panel of 180 metabolites to gain insights into mechanisms of action and response to certain SSRIs used to treat major depressive disorder.

Read full text in Translational Psychiatry


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


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


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