From bedside to bench and back… translating our science.
The Craniofacial Anomalies and Regeneration Section and my lab focuses on craniofacial and oral anomalies, and disorders that impact human facial development. Our research includes cellular and molecular analyses, animal models, 3D computational analysis and deep clinical phenotyping to develop a greater understanding of the mechanisms that result in the highly variable patient phenotypes of craniofacial disorders, including Loeys-Dietz syndrome (a monogenic disease) and variants of facial development including mandibular prognathism (a complex and polygenic trait). We have a very active clinical craniofacial anomalies and surgical reconstruction team that compliments our work in the lab (the “bench”). With patients as our partners in research, we are able to examine craniofacial and oral conditions in the context of the family unit and use patient data and our laboratory data to direct our efforts in better diagnosis and predicting aberrant facial growth, novel surgical/non-surgical treatment, and some day, prevention to avoid surgery altogether. As a surgeon-scientist at the NIDCR, the lessons learned in surgery and at the “bedside” are critical in our vision to improve patient care, treat and prevent disease through our research.
Often times, these craniofacial anomalies and conditions require extensive surgery and requires removing bone from one part of the body to reconstruct a part of the face. The lab is examining the ability of our bodies to regenerate large-scale bone defects spontaneously and without bone grafts or tissue transfers. By studying this in both humans and mice, we are examining the role of aging and the immune system in bone regeneration that may be induced to reconstruct craniofacial defects.
Dr. Lee earned a D.D.S. and an M.S. from the University of California, Los Angeles and an M.D. from Harvard Medical School. She completed a residency in oral and maxillofacial surgery at Massachusetts General Hospital/Harvard University and a two-year research fellowship in NIDCR’s Craniofacial and Skeletal Diseases Branch. Before joining NIDCR and NIH, she was professor of oral and maxillofacial surgery at the University of California, San Francisco. She is now the Clinical Director and Chief of the Craniofacial Anomalies and Regeneration Section. In September 2020, she was appointed as Deputy Director for Intramural Clinical Research (DDICR). She has a number of exciting collaborations and studies, including:
- 16-D-0040 Natural History of Craniofacial Anomalies and Developmental Growth Variants (NCT02639312; PI: Janice Lee)
- Assessment of Temporomandibular Joint Morphology, Mechanics, and Mechanobiology in Class II and III Target and Surgical Phenotypes (PI: Hai Yao and Janice Lee)
- Clear Aligners for the Treatment of Dental Malocclusion in OI Types III and IV (NCT04815564; PI: Brendan Lee, co-PI: Janice Lee)
- Gene First Approach to Connective Tissue Disease (NCT04664478; PI: Beth Kozel, collaborator: Janice Lee)
- PorrasPerez AR, Keating R, Lee J, Linguraru MG. Predictive statistical model of early cranial development. IEEE Trans Biomed Eng. 2022 Feb;69(2):537-546. doi: 10.1109/TBME.2021.3100745. Epub 2022 Jan 20. PMID: 34324420; PMCID: PMC8776594.
- She X, Sun S, Damon BJ, Hill CN, Coombs MC, Wei F, Lecholop MK, et al. Sexual dimorphisms in three-dimensional masticatory muscle attachment morphometry regulates temporomandibular joint mechanics. J Biomech. 2021 Sep 20;126:110623. doi: 10.1016/j.jbiomech.2021.110623. Epub 2021 Jul 10. PMID: 34311291; PMCID: PMC8453136.
- Kidwai FK, Mui BWH, Almpani K, Jani P, Keyvanfar C, Iqbal K, et al. Quantitative craniofacial analysis and generation of human induced pluripotent stem cells for muenke syndrome: a case report. J Dev Biol. 2021 Sep 22;9(4):39. doi: 10.3390/jdb9040039. PMID: 34698187; PMCID: PMC8544470.
- Jani P, Duverger O, Mishra R, Frischmeyer-Guerrerio PA, Lee JS: Case report: rare presentation of dentin abnormalities in loeys-dietz syndrome type I. Front Dent Med 2021 Aug. doi:10.3389/fdmed.2021.674136.
- Almpani K, Liberton DK, Jani P, Keyvanfar C, Mishra R, Curry N, et al. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. J Med Genet. 2022 Oct;59(10):938-946. doi: 10.1136/jmedgenet-2021-107695. Epub 2021 Dec 16. PMID: 34916229; PMCID: PMC9554024.
- Mui BWH, Arora D, Mallon BS, Martinez AF, Lee JS, Muenke M, et al. Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation. Stem Cell Res. 2020 Jul;46:101823. doi: 10.1016/j.scr.2020.101823. Epub 2020 May 19. PMID: 32505898; PMCID: PMC8447220.
- Misra, M. Gill, J. S. Lee and S. Antani, Segmentation of anterior tissues in craniofacial cone-beam CT images," IEEE(CBMS). 2020; 71-76. doi: 10.1109/CBMS49503.2020.00021.
- Liberton DK, Verma P, Almpani K, Fung PW, Mishra R, Oberoi S, et al. Craniofacial analysis may indicate co-occurrence of skeletal malocclusions and associated risks in development of cleft lip and palate. J Dev Biol. 2020 Jan 28;8(1):2. doi: 10.3390/jdb8010002. PMID: 32012961; PMCID: PMC7151201.
- Kim I, Misra D, Rodriguez L, Gill M, Liberton DK, Almpani K, et al. Malocclusion classification on 3D cone-beam CT craniofacial images using multi-channel deep learning models. Annu Int Conf IEEE Eng Med Biol Soc. 2020 Jul;2020:1294-1298. doi: 10.1109/EMBC44109.2020.9176672. PMID: 33018225.
- Kidwai F, Mui BWH, Arora D, Iqbal K, Hockaday M, de Castro Diaz LF, et al. Lineage-specific differentiation of osteogenic progenitors from pluripotent stem cells reveals the FGF1-RUNX2 association in neural crest-derived osteoprogenitors. Stem Cells. 2020 Sep;38(9):1107-1123. doi: 10.1002/stem.3206. Epub 2020 Jun 9. PMID: 32442326; PMCID: PMC7484058.
- Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, et al. Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation. J Med Genet. 2020 Oct;57(10):699-707. doi: 10.1136/jmedgenet-2019-106678. Epub 2020 Mar 8. PMID: 32152251; PMCID: PMC7525783.
- Torosdagli N, Liberton DK, Verma P, Sincan M, Lee JS, Bagci U. Deep geodesic learning for segmentation and anatomical landmarking. IEEE Trans Med Imaging. 2019 Apr;38(4):919-931. doi: 10.1109/TMI.2018.2875814. Epub 2018 Oct 12. PMID: 30334750; PMCID: PMC6475529.
- Nguyen QC, Duverger O, Mishra R, Mitnik GL, Jani P, Frischmeyer-Guerrerio PA, et al. Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study. Orphanet J Rare Dis. 2019 Dec 16;14(1):291. doi: 10.1186/s13023-019-1250-y. PMID: 31842932; PMCID: PMC6915860.
- Liberton DK, Verma P, Contratto A, Lee JS. Development and validation of novel three-dimensional craniofacial landmarks on cone-beam computed tomography scans. J Craniofac Surg. 2019 Oct;30(7):e611-e615. doi: 10.1097/SCS.0000000000005627. PMID: 31478954; PMCID: PMC7500863.
- Liberton DK, Mishra R, Beach M, Raznahan A, Gahl WA, Manoli I, et al. Comparison of three-dimensional surface imaging systems using landmark analysis. J Craniofac Surg. 2019 Sep;30(6):1869-1872. doi: 10.1097/SCS.0000000000005795. PMID: 31335576.