Sami Amr, PhD
"To me, personalized medicine represents a revolution in standard medical practice where an individual's genetic information would be leveraged to prevent, diagnose, and guide treatment. I joined Partners Personalized Medicine because it allows me to participate and witness the application of translational research into the clinic. It also provides tremendous resources to researchers and clinicians to facilitate the path for personalized medicine." - Sami Amir
Sami Amr is the Director of the Translational Genomics Core of Partners HealthCare Personalized Medicine where he feels privileged to work with basic and translational researchers across Partners Healthcare to identify DNA, RNA, and methylation markers and signatures of disease that can help de-convolute underlying mechanisms of pathogenesis as well as be leveraged in diagnostic and clinical assays.
Dr. Sami Amr is a board-certified clinical molecular geneticist (American College of Medical Genetics) and functions as an Assistant Director of the Laboratory for Molecular Medicine (LMM). He is involved in development, validation, and reporting of clinical genetic testing across a variety of disease areas with a focus on hearing loss. his background in nucleic acid testing for the purpose of identifying molecular markers and creating diagnostic assays stems from experiences during his ABMG fellowship in clinical molecular genetics at Harvard Medical School, where he devoted his energy to enhancing clinical platforms for increased analytical sensitivity and to the implementation of new technologies for greater clinical testing performance. These include the use of peptide nucleic acids (PNAs) to increase the sensitivity of detection of known somatic mutations and working with the LMM R&D team to develop a Next-Generation Sequencing (NGS) panel that targets ~70 genes associated with nonsyndromic and syndromic hearing loss. In addition, he has been intimately involved in the development of analysis tools to help harness and exploit the data generated by new platforms such as the detection of copy number variants using NGS data. In addition to his lab efforts, he devotes much of his time towards the analysis and interpretation of novel and previously identified variants in the context of patient disease, particularly hearing loss.
- 2002, BA, Biological Psychology, College of William and Mary
- 2005, BSc, Genetic Engineering and Biotechnology, Jordan University of Science and Technology
- 2010, PhD, Human and Molecular Genetics (Rita Shiang, PhD), Virginia Commonwealth University
- 2013, FACMG, Molecular Genetics, Harvard Medical School Genetics Training Program / American Board of Medical Genetics
- Amr S, Heisey C, Zhang M, Shows K, Ajlouni K, Satin L, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc finger protein, ERIS, is responsible for Wolfram Syndrome 2. Am J Human Gen 2007; 81. 673-683.
- An Y*, Amr SS*, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu B-L, Shen Y. SOX12 and NRSN2 Are Candidate Genes for 20p13 Subtelomeric Deletions Associated With Developmental Delay. Am J Med Genet Part B 2013; 162B:832-840.
- 2007: Charles C. Clayton Award for Outstanding Academic Performance, Virginia Commonwealth University
- 2008: Phi Kappa Phi Scholarship Award for Outstanding Academic Performance, Virginia Commonwealth University
- 2008: Graduate Student Travel Award for participation in the annual American Society of Human Genetics meeting, Virginia Commonwealth University
- 2011: Partners in Excellence Team Award, Development of Clinical Next-Generation Sequencing Platform, Partners HealthCare