To investigate the role of the gut microbiome in kwashiorkor, an enigmatic form of severe acute malnutrition, researchers performed a longitudinal comparative study of the fecal microbiomes of monozygotic (MZ) and dizygotic (DZ) twin pairs born in Malawi who became discordant for kwashiorkor. The study also included dietary experiments in gnotobiotic mice that had received gut microbiota transplants from twins discordant for kwashiorkor. Authors of the paper include CPHG faculty Pat Concannon, PhD, Josyf Mychaleckyj, MA, DPhil, and Steve Rich, PhD.   Gut Microbiomes of Malawian Twin Pairs Discordant for Kwashiorkor was published online in the January 30, 2013 issue of Science.

A research team, led by the Farber lab in the Center for Public Health Genomics and collaborators at UCLA and the University of Namur in Belgium, has used a systems-based approach to identify gene networks that govern the activity of bone cells.  The group used genome-wide gene expression data across a large panel of inbred mouse strains to identify a network of genes that are involved in the function of bone-forming osteoblasts, one of the key cell types in determining bone strength.  The authors went on to use the network to elucidate novel genes that are involved in osteoblast-mediated bone formation.  The study revealed novel regulatory mechanisms governing bone formation that may one day be targets of therapies designed to prevent and treat osteoporotic fractures.  Systems Genetic Analysis of Osteoblast-Lineage Cells was published online in PLoS Genetics on December 27, 2012.

A team of volunteers from the Center for Public Health Genomics took part in this year’s Lawrence Richardson United Way Day of Caring held on September 19, 2012. CPHG volunteers spent the morning painting a fence that borders the community demonstration garden at Bracketts Farm, a preserved 18th century farm deeded to the Green Springs National Historic District and the National Park Service. Operated by the Elizabeth Nolting Charitable Foundation, Bracketts Farm continues as a working farm with the purpose of exhibiting outstanding historic rural architecture and sustainable farming methods. Food grown in the Bracketts Farm garden is donated to the needy through local food banks.

A study by UVa researchers from the Center for Public Health Genomics and the Cancer Center was recently published in Molecular Cancer Therapeutics. Previous data has shown that extracellular signals are transmitted through a network rather than hierarchical pathways suggesting why restricting a single component of a pathway is not sufficient in treating cancer. CPHG Assistant Professor Aaron Mackey and his fellow scientists performed a functional chemical genetic screen which was used to identify novel interactions between signaling inhibitors that would not be predicted based on current understanding. Over 300 drug combinations in nine melanoma cell lines were screened and the researchers identified pairs of compounds that show synergistic cytotoxicity. Synthetic lethal screening with small molecule inhibitors provides a pathway to rational combination therapies for melanoma was published Sept. 7, 2012 in Molecular Cancer Therapeutics OnlineFirst.

Graduate student Yiqi Huang of the Sale Lab was selected to receive an Early Career Investigator Travel Stipend Award to attend the Kern Lipid Conference in Vail, Colorado, July 12-15, 2012. While attending the conference, she presented a poster entitled “Genome-wide association study (GWAS) of lipoprotein subclasses in African Americans identifies two novel loci.” The Kern Lipid Conference, which has been held each year since 1985, provides an open forum where scientists from both academia and industry can meet and discuss science related to lipid metabolism. The theme of this year’s conference was “Systems Biology, Lipidomics and Cardiometabolic Diseases.”

Assistant Professor Aaron Quinlan is among a group of researchers who have developed a novel method using singular value decomposition (SVD) normalization to detect rare genic copy number variants (CNVs) from exome sequencing data. The researchers demonstrate that this method can be used to reliably discover disruptive genic CNVs missed by standard approaches and expect it to have a broad application in human genetic studies of disease. Copy number variation detection and genotyping from exome sequence data was published in the May 14, 2012 issue of Genome Research.

In a recent study led by Assistant Professor Ani Manichaikul, researchers performed a  population structure analysis  for 1,374 unrelated individuals from the MESA Hispanic cohort. The individuals included in the analysis self-identified with six major countries/regions of origin: Central America, Cuba, the Dominican Republic, Mexico, Puerto Rico, and South America. By comparing genetic ancestry of the participants to reference samples representing worldwide diversity, major differences in ancestry of MESA Hispanics were shown and four subgroups were identified that show close agreement with self-identification, labeled primarily as Dominican/Cuban, Mexican, Central/South American, and Puerto Rican. The results of this research demonstrate the importance of considering population substructure and genetic heterogeneity when performing genetic studies of the United States Hispanic population.  Population structure of Hispanics in the United States: the multi-ethnic study of atherosclerosis was published in the April 2012 issue of PLoS Genetics.

Stephen Williams, PhD, of the Sale and Worrall Labs was the winner of the 2012 Presidential Research Poster Competition in the Engineering, Biosciences, & Health postdoc category.  The goal of the competition is to recognize innovative student research that is having, or could have a high impact in the student’s field of study. Judges from all disciplines reviewed over 130 posters competing in six different categories to determine this year’s winners. The title of Williams’ poster was “Significant Genome Wide Association and Functional Affect Identified Between the Glycine N-Methyltransferase Gene (GNMT) and ∆POST-Methionine Load Test Homocysteine Levels in the Vitamin Intervention for Stroke Prevention (VISP) Cohort”.  His poster will be on display in the Rotunda until after graduation, then on the 6^th floor of the Multi-Story Building near the Sale-Keene Lab (MSB 6121).

Researchers led by Josyf Mychaleckyj, MA, DPhil, have published their findings from a recent ancillary study to the ACCORD Lipid Trial. The aim of the study was to determine the reversibility of the rise of serum creatinine levels in patients with diabetes after 5 years of continuous on-trial fenofibrate therapy. It was concluded that the fenofibrate-associated on-trial increases in serum creatinine were reversible. Reversibility of Fenofibrate Therapy-Induced Renal Function Impairment in ACCORD Type 2 Diabetes Participants was published in the March 2012 issue of Diabetes Care.

Anindya Dutta, MD, PhD, Byrd Professor and Chair of the Department of Biochemistry & Molecular Genetics, and affiliate faculty member of the CPHG, has co-authored a new study featured in a recent issue of The Scientist. Dutta and his colleagues have identified a new DNA entity in mammalian cells and offer evidence that their generation leaves behind deletions in different genomic loci. Extrachromosomal MicroDNAs and Chromosomal Microdeletions in Normal Tissues was published in the March 8, 2012 issue of Science.