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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

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Published On 2025 Feb 23

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.


Gene signatures derived from transcriptomic-causal networks stratify colorectal cancer patients for effective targeted therapy

Published On 2025 Jan 08

Journal article

CONCLUSIONS: This study underscores the utility of gene signatures derived from transcriptomic-causal networks in patient stratification for effective therapies. The interpretability of the findings, supported by replication, highlights the potential of these signatures to identify patients likely to benefit from cetuximab or bevacizumab.