Anelia Horvath MS Program Director Research Professor of Biochemistry and Molecular Medicine Office Phone: 202-299-4657 Email: Email Department: Biochemistry and Molecular Medicine

Education

• BSc, Sofia University, Bulgaria, 1993
• M.Sc, Sofia University, Bulgaria, 1996
• PhD, Sofia University, Bulgaria, 2002

Research

 Our research program has two main aspects. The first focuses on identifying biologically significant trends from Next Generation Sequencing (NGS) datasets. We design and develop novel strategies for logical mining of high-throughput data to extract meaningful sets of high-priority molecules. Our pipelines efficiently integrate alignment, assembly, and variants analysis, with custom analytical modules searching for functional molecular networks. Furthermore, we develop algorithms that quantitatively overlay matching DNA and RNA sequence layers to interlink encoded and regulatory genomic features.

The second aspect of our research is focused on the applications of the above methodologies on different disease conditions, including cancer. We apply the developed analytical pipelines to search for pathogenic and protective genetic signatures. To validate our findings in a clinical setting, we work in close collaboration with GW Hospital and Children’s National Health System. Our overarching goal is to identify molecules and pathways that could be further used in novel diagnostic and preventive strategies.

For more information, please visit the Horvath Lab website

Publications

Movassagh M, Mudvari P, Kokkinaki M, Edwards NJ, Golestaneh N, and Horvath A. (2014) Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform. Journal of Clinical Bioinformatics, in press.

Trivellin G, Daly A. Faucz F, Yuan B, Rostomyan L, Larco D, Schernthaner-Reiter M, Szarek E, Leal L, Caberg H, Castermans E, Villa C, Chittiboina P, Mazerkina N, Lodish M, Horvath A, et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 defects. N. Engl. J. Med, 2014; in press.

Mudvari P, Kowsari K, Cole C, Mazumder, R, and Horvath A. Extraction of Regulatory Features through Exome-to-Transcriptome Alignment Journal of Metabolomics & Systems Biology, 22;1,pii:7; 2014.

Horvath A, Pakala SB, Mudvari P, Reddy SD, Ohshiro K, Casimiro S, Pires R, Fuqua SA, Toi M, Costa L, Nair SS, Sukumar S, Kumar R. Novel insights into breast cancer genetic variance through RNA sequencing. Sci Rep, 2013; 3:2256.

Eswaran J, Horvath A, Godbole S, Reddy SD, Mudvari P, Ohshiro K, Cyanam D, Nair S, Fuqua SA, Polyak K, Florea LD, Kumar R. RNA sequencing of cancer reveals novel splicing alterations. Sci Rep, 2013;3:1689; 2013.

Mudvari P, Ohshiro K, Nair V, Horvath A, Kumar R. Genomic Insights into Triple-Negative and HER2-Positive Breast Cancers Using Isogenic Model Systems. PLoS One; 8:e74993; 2013.

Motwani M, Li DQ, Horvath A, Kumar R. Identification of Novel Gene Targets and Functions of p21-Activated Kinase 1 during DNA Damage by Gene Expression Profiling. PLoS One; 8:e66585; 2013.

Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res; 69:5301-6, 2009.

Horvath A, Mericq V, & CA Stratakis. Mutation in PDE8B, a cAMP-specific Phosphodiesterase in Adrenal Hyperplasia. N. Engl. J. Med; 358:750-2, 2008.

Horvath A, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics; 38:794-800, 2006.

Industry Relationships and Collaborations

This faculty member (or a member of their immediate family) has reported a financial interest with the health care related companies listed below. These relations have been reported to the University and, when appropriate, management plans are in place to address potential conflicts.

• None