Program Director: Joshua C. Denny, MD, MS
The Vanderbilt Genomic Medicine (VGM) Training Program is now accepting applications for the 2017-2018 postdoctoral fellowship. VGM includes a major focus in pharmacogenomics, precision phenotyping, medical informatics, and disease-based genomics.
The program builds on decades-long strengths in critical enabling resources such as 1) BioVU, the largest biobank linking DNA samples to electronic medical records (EMRs) at a single academic institution (now >204,000 subjects), 2) Participation in three NHGRI-funded networks: the Electronic Medical Records and Genomics (eMERGE) network and eMERGE coordinating center, the Implementing Genomics in Practice (IGNITE) Network, and the Undiagnosed Diseases Network (UDN), 3) The Pharmacogenomic Resource for Enhanced Decisions In Care and Treatment (PREDICT) project that embeds genetic information in patient EMRs to guide drug and dosage choices (PREDICT served as one model for the ongoing eMERGE-PGx project that implements a similar preemptive genotyping paradigm across eMERGE), 4) the Program in Personalized Therapy for Cancer that applies tumor genome sequencing to identify actionable mutations in cancers and to personalized target therapy, 5) The HIV-Pharmacogenomics program, 6) the largest Department of Biomedical Informatics in the country, with strong research, education, and support programs in clinical information technology, and 7) participation and leadership in other related efforts at NIH, including the Genotype-Tissue Expression project (GTEx) and the Pharmacogenomics Research Network (PGRN).
The program has 29 highly collaborative and well-funded faculty preceptors who team up to provide both basic and clinical research training opportunities to both Ph.D.-level and M.D.-level postdoctoral fellows. Trainees will participate in rotations, internships, seminars, journal clubs, and retreats and interact with other trainees and faculty. Under Vanderbilt’s Biomedical Research Education and Training (BRET) Office, the program will provide RCR training, high-standard Individual Development Plans (IDP), and the Career Development programs.
Applicants must have been awarded a doctorate in biomedical sciences, medicine or a related field. Some prior experience in Computer Science, Statistics, Informatics, and/or Genetics is recommended, but not required.
Anyone interested in being considered must submit the following (in PDF format) to Janey Wang by 5 p.m. on Monday, April 3rd:
- 1-page personal research statement
- Letter of recommendation
- CV or biosketch
- Unofficial transcripts
Submissions should reference the program name in the subject line of the email.
If you have any questions about the VGM program, please contact Janey Wang, Project Manager, Center for Precision Medicine, Department of Biomedical Informatics.
Acknowledgement: The Vanderbilt Genomic Medicine Training Program is supported by an institutional training grant (T32HG008341) from the National Human Genome Research Institute of the National Institute of Health.
2016-2017 Research Fellow Trainees
Dan M. Roden, MD
Professor of Medicine, Pharmacology, and Biomedical Informatics
Director, Oates Institute for Experimental Therapeutics
Senior Vice President for Personalized Medicine
As more patients are sequenced to identify variants in Mendelian disease genes, there is a growing challenge of interpreting the detected variants. Increasingly, novel “variants of uncertain significance” are being identified, which have little or no published data on their pathogenicity. Variants in the voltage-gated cardiac sodium channel, SCN5A, can lead to Brugada Syndrome and Long QT Syndrome, potentially fatal arrhythmia conditions. The American College of Medical Genetics recommends that incidental pathogenic variants in SCN5A be reported so that patients and family members can be accurately diagnosed and treated. Unfortunately, our lab and others have found that the pathogenicity of SCN5A variants is often unknown or disputed and often does not accurately predict arrhythmias. Identification of a large set of SCN5A variants that have perturbed function in vitro may enable more accurate diagnosis and treatment of arrhythmia syndromes. My aim is to perform a high-throughput in vitro screen of SCN5A coding variants.
I have performed proof-of-principle experiments to demonstrate methods for the four steps of the screen: mutagenesis, transgenesis, functional assays, and high-throughput sequencing. During my time as a T32 fellow, I will apply these methods to survey the channel activity and membrane trafficking of most of the 1920 possible coding variants in an important 96 amino acid region of SCN5A. I will compare the in vitro dataset with known pathogenic variants in this region to determine if the in vitro data can help predict pathogenicity. This work is innovative because it leverages recently developed high-throughput sequencing based methods to broaden and improve our understanding of variants in an important cardiac disease gene. As genomic medicine continues to become more commonplace, the challenge of interpreting patients' variants will continue to grow. This project provides a template for a general approach for improving the breadth and quality of genomic annotations to help deliver on the promise of genomic and precision medicine.
Lab: 1285 Medical Research Building IV