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.
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.
Journal article
Mutations in the PSEN genes are the major cause of familial Alzheimer's disease, and presenilin (PS) is the catalytic subunit of γ-secretase, which cleaves type I transmembrane proteins, including the amyloid precursor protein (APP) to release Aβ peptides. While PS plays an essential role in the protection of neuronal survival, PSEN mutations also increase the ratio of Aβ42/Aβ40. Thus, it remains unresolved whether PSEN mutations cause AD via a loss of its essential function or increases of...
Journal article
CONCLUSION: Overall, our study provides evidence that Psen1 and Psen2 are important guardians of intestinal homoeostasis and future targets for barrier-promoting therapeutic strategies in IBD.