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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

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss

Published On 2026 Sep 07

Journal article

Identifying new genes responsible for non-syndromic hearing loss remains a critical goal as many patients still lack a molecular diagnosis despite comprehensive genetic testing. The tectorial membrane (TM) is a specialized acellular matrix of the inner ear, essential for stimulating mechanosensitive hair cell stereocilia bundles and maintaining frequency tuning and auditory sensitivity. Although mutations in genes encoding several non-collagenous proteins found in the TM (TECTA, CEACAM16, OTOG,...


A dual role of EZH2 in regulating A-to-I RNA editing and mRNA stability through ADAR

Published On 2026 Mar 26

Journal article

Adenosine-to-inosine (A-to-I) RNA editing, catalyzed by adenosine deaminases acting on RNA (ADARs), is a widespread modification in metazoans. Cumulative evidence has revealed the altered A-to-I editing profiles in cancers, but the underlying mechanism remains unclear. Here, we discover the well-known histone lysine methyltransferase enhancer of zeste homologue 2 (EZH2) as an unexplored ADAR interactor and editing regulator in prostate cancer (PCa). Through competing with interleukin enhancer...