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Jun Shen

Ph.D., FACMG

Geneticist

Brigham and Women’s Hospital

Dr. Jun Shen is a Clinical Molecular Geneticist certified by the American Board of Medical Genetics and Genomics at Brigham and Women's Hospital. She is a fellow member of the American College of Medical Genetics and Genomics.

Dr. Shen’s clinical and research interests are focused on identifying genetic etiologies of hereditary disorders which include molecular genetic diagnosis and new gene discovery. She is Co-PI of the Hear-’n-SEQ program, one of the Gabriella Miller Kids First cohort studies, in which genome sequencing is applied to identify genetic causes of structural birth defects. She formerly was the co-investigator of the SEQaBOO project to investigate how to apply genome sequencing to newborn screen to improve care. Dr. Shen also serves on the ClinGen Expert Panel for Hearing Loss.

Dr. Shen received her PhD from Harvard University, did her postdoctoral training at Harvard Medical School and Howard Hughes Medical Institute, and completed the clinical molecular genetics fellowship through the Harvard Medical School Genetics Training Program. 

Jun Shen

Ph.D., FACMG

Geneticist

Brigham and Women’s Hospital

Dr. Jun Shen is a Clinical Molecular Geneticist certified by the American Board of Medical Genetics and Genomics at Brigham and Women's Hospital. She is a fellow member of the American College of Medical Genetics and Genomics.

Dr. Shen’s clinical and research interests are focused on identifying genetic etiologies of hereditary disorders which include molecular genetic diagnosis and new gene discovery. She is Co-PI of the Hear-’n-SEQ program, one of the Gabriella Miller Kids First cohort studies, in which genome sequencing is applied to identify genetic causes of structural birth defects. She formerly was the co-investigator of the SEQaBOO project to investigate how to apply genome sequencing to newborn screen to improve care. Dr. Shen also serves on the ClinGen Expert Panel for Hearing Loss.

Dr. Shen received her PhD from Harvard University, did her postdoctoral training at Harvard Medical School and Howard Hughes Medical Institute, and completed the clinical molecular genetics fellowship through the Harvard Medical School Genetics Training Program. 

Recent Publications

Global, Regional, and National Burden of Cardiovascular Diseases and Risk Factors in 204 Countries and Territories, 1990-2023

Published On 2025 Sep 24

Journal article

CONCLUSIONS: CVD remains the leading cause of disease burden and death worldwide with the greatest burden in low, low-middle, and middle SDI regions. Large variation exists in CVD burden even for countries at similar levels of development, a gap explained substantially by known, modifiable risk factors that are inadequately controlled. The decades-long increase in CVD burden was the result of population growth, population aging, and increased exposure to a subset of risk factors led by metabolic...


A protein-based classifier for differentiating follicular thyroid adenoma and carcinoma

Published On 2025 May 29

Journal article

Differentiating follicular thyroid adenoma (FTA) from carcinoma (FTC) remains challenging due to similar histological features separate from invasion. This study developed and validated DNA- and/or protein-based classifiers. A total of 2443 thyroid samples from 1568 patients were obtained from 24 centers in China and Singapore. Next-generation sequencing of a 66-gene panel revealed 41 (62.1%) detectable genes, while 25 were not, showing similar alteration patterns with differing mutation...