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
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
Journal article
CONCLUSION: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts.
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...