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Sami Samir Amr

Ph.D.

Associate Director, MGB Laboratory of Molecular Medicine

Director, Translational Genomics Core, MGB Personalized Medicine

Assistant Professor of Pathology Harvard Medical School

Dr. Sami S Amr is an Assistant Professor in the Department of Pathology at Brigham and Women’s Hospital and Harvard Medical School. He is also Associate Director of the Laboratory of Molecular Medicine and Director of the Biobank Genomics Core at Mass General Brigham Personalized Medicine. Dr. Amr is also board certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics (ABMGG).

Dr. Amr’s career spans over 10 years in clinical molecular diagnostics, where he has led the development and implementation of several clinical assays including large gene panels for inherited disease as well as smaller panels/assays for technically challenging regions or genes. In addition, has been involved in analysis, interpretation and reporting of clinical genetics testing for a variety of genetic disease areas with a focus on hearing loss. Dr. Amr serves as co-chair of the ClinGen Hearing Loss Working Group whose efforts focus on the standardization of variant classification and the assessment of gene-disease association in this disease area. He has also been involved in national committees to assess genetic screening as part of newborn hearing screen testing and on several clinical translational projects involving hearing loss testing.

Dr. Amr has authored or co-authored over 40 publications on clinical and technical aspects of genetic testing, molecular diagnostics, and approaches to genetic data interpretation. He has also lectured on a broad range of topics in the clinical diagnostics and biomarkers discoveries at national and international conferences. In addition, Dr. Amr plays an active role in the mentorship and training of clinical and laboratory AMBGG fellows as well genetic counselors, medical students, and colleagues

Sami Samir Amr

Ph.D.

Associate Director, MGB Laboratory of Molecular Medicine

Director, Translational Genomics Core, MGB Personalized Medicine

Assistant Professor of Pathology Harvard Medical School

Dr. Sami S Amr is an Assistant Professor in the Department of Pathology at Brigham and Women’s Hospital and Harvard Medical School. He is also Associate Director of the Laboratory of Molecular Medicine and Director of the Biobank Genomics Core at Mass General Brigham Personalized Medicine. Dr. Amr is also board certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics (ABMGG).

Dr. Amr’s career spans over 10 years in clinical molecular diagnostics, where he has led the development and implementation of several clinical assays including large gene panels for inherited disease as well as smaller panels/assays for technically challenging regions or genes. In addition, has been involved in analysis, interpretation and reporting of clinical genetics testing for a variety of genetic disease areas with a focus on hearing loss. Dr. Amr serves as co-chair of the ClinGen Hearing Loss Working Group whose efforts focus on the standardization of variant classification and the assessment of gene-disease association in this disease area. He has also been involved in national committees to assess genetic screening as part of newborn hearing screen testing and on several clinical translational projects involving hearing loss testing.

Dr. Amr has authored or co-authored over 40 publications on clinical and technical aspects of genetic testing, molecular diagnostics, and approaches to genetic data interpretation. He has also lectured on a broad range of topics in the clinical diagnostics and biomarkers discoveries at national and international conferences. In addition, Dr. Amr plays an active role in the mentorship and training of clinical and laboratory AMBGG fellows as well genetic counselors, medical students, and colleagues

Recent Publications

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder

Published On 2024 Oct 14

Journal article

Malate is an important dicarboxylic acid produced from fumarate in the tricarboxylic acid cycle. Deficiencies of fumarate hydrolase (FH) and malate dehydrogenase (MDH), responsible for malate formation and metabolism, respectively, are known to cause recessive forms of neurodevelopmental disorders (NDDs). The malic enzyme isoforms, malic enzyme 1 (ME1) and 2 (ME2), are required for the conversion of malate to pyruvate. To date, there have been no reports linking deficiency of either malic enzyme...


MiRNA expression profiling reveals a potential role of microRNA-148b-3p in cerebral vasospasm in subarachnoid hemorrhage

Published On 2024 Sep 28

Journal article

Cerebral vasospasm (CVS) is an important contributor to delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage (aSAH), leading to high morbidity and long-term disability. While several microRNAs (miRNAs) have been implicated in vasospasm, the underlying mechanisms for CVS remain poorly understood. Our study aims to identify miRNAs that may contribute to the development of CVS. Whole-blood samples were obtained during or outside of vasospasm from aSAH patients whose maximal...