About My Research
Dr. Whitman studies the growth and guidance of the oculomotor nerve in normal development and in complex forms of strabismus, using explants and live imaging in slice cultures from genetically modified mice. Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic form of strabismus associated with deficits in eye movements, caused by improper innervation of the cranial nerves. Using a mouse model of CFEOM, she is defining the cues and pathway necessary for proper axon guidance of the oculomotor nerve.
Education
2001: AB, Biochemical Sciences, Harvard College
2008: PhD, Neurobiology, Yale University
2009: MD, Yale School of Medicine
Postgraduate Training
2010: Internship, Medicine, New York University
2013: Residency, Ophthalmology, Columbia University
2014: Fellowship, Pediatric Ophthalmology, Boston Children’s Hospital
Academic Appointments
2014-present: Instructor in Ophthalmology, Harvard Medical School
Professional Memberships
2003-2009, 2014-present: Society for Neuroscience
2004-2009: Association for Chemoreception Sciences
2010-2014: New York Ophthalmological Society
2010-present: American Academy of Ophthalmology
2013-present: American Association of Pediatric Ophthalmology and Strabismus (AAPOS)
2014-2016: American Medical Association
2014-present: Massachusetts Medical Society
2015-present: Association for Research in Vision and Ophthalmology (ARVO)
2017-present: Massachusetts Society of Eye Physicians & SUrgeons
Selected Honors
2000: Fellowship, Harvard College Research Fund
2007: Association for Chemoreception Sciences Student Travel Award
2009: The Selma and Karl Folkers Prize in Biochemical Research
2012: B. Dobli Srinivasan Award Best Clinical Research Paper, Edward S. Harkness Eye Institute, Columbia University College of Physicians and Surgeons
2013-2014: Heed Foundation Fellow
- Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. 2024 Feb 15.
- Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 07; 55(7):1149-1163.
- Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome. Invest Ophthalmol Vis Sci. 2022 09 01; 63(10):4.
- TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Dev Biol. 2022 10; 490:126-133.
- First Visit Characteristics Associated with Future Surgery in Intermittent Exotropia. J Binocul Vis Ocul Motil. 2022 Jan-Mar; 72(1):22-28.
- TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec; 140(12):1709-1731.
- Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders. Annu Rev Vis Sci. 2021 09 15; 7:827-850.
- Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 05; 29(5):816-826.
- Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22.
- Ocular injury via epinephrine auto-injector. J AAPOS. 2020 06; 24(3):179-181.
- Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 11 12; (153).
- Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Rep. 2019 10 08; 29(2):437-452.e4.
- Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125.
- Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. J Vis Exp. 2019 07 16; (149).
- Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. J AAPOS. 2019 08; 23(4):226-228.e1.
- Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):5201-5209.
- Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 08 14; 24(7):1865-1879.e9.
- Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 08 01; 59(10):4054-4064.
- Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 08 01; 26(R1):R37-R44.
- Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2388-2396.
- Reply. Ophthalmology. 2017 01; 124(1):e11.
- Bifocals Fail to Improve Stereopsis Outcomes in High AC/A Accommodative Esotropia. Ophthalmology. 2016 Apr; 123(4):690-6.
- Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb; 170A(2):297-305.
- Complications of pediatric cataract surgery. Semin Ophthalmol. 2014 Sep-Nov; 29(5-6):414-20.
- Retinal vasculature remodeling in a case of systemic lupus erythematosus vaso-occlusive retinopathy. Retin Cases Brief Rep. 2014; 8(1):77-82.
- Dent in the forehead: a rare manifestation of metastatic cancer. Arch Ophthalmol. 2012 Oct; 130(10):1349-51.
- A case of lower extremity venous thrombosis in the pediatric emergency department: associations with May-Thurner syndrome and isotretinoin use. Pediatr Emerg Care. 2011 Feb; 27(2):125-8.
- Short tag noose technique for optional and late suture adjustment in strabismus surgery. Arch Ophthalmol. 2009 Dec; 127(12):1584-90.
- Blood vessels form a migratory scaffold in the rostral migratory stream. J Comp Neurol. 2009 Sep 10; 516(2):94-104.
- Adult neurogenesis and the olfactory system. Prog Neurobiol. 2009 Oct; 89(2):162-75.
- Principles of glomerular organization in the human olfactory bulb--implications for odor processing. PLoS One. 2008 Jul 09; 3(7):e2640.
- Dynamic contribution of nestin-expressing stem cells to adult neurogenesis. J Neurosci. 2007 Nov 14; 27(46):12623-9.
- Synaptic integration of adult-generated olfactory bulb granule cells: basal axodendritic centrifugal input precedes apical dendrodendritic local circuits. J Neurosci. 2007 Sep 12; 27(37):9951-61.
- Adult-generated neurons exhibit diverse developmental fates. Dev Neurobiol. 2007 Jul; 67(8):1079-93.
- A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):200-14.
- A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2005 Dec; 30(4):538-51.
- Disulfide bond-mediated dimerization of HLA-G on the cell surface. Proc Natl Acad Sci U S A. 2002 Dec 10; 99(25):16180-5.
- Binding of the natural killer cell inhibitory receptor Ly49A to its major histocompatibility complex class I ligand. Crucial contacts include both H-2Dd AND beta 2-microglobulin. J Biol Chem. 2002 Jan 11; 277(2):1433-42.
- Kinetics and thermodynamics of beta 2-microglobulin binding to the alpha 3 domain of major histocompatibility complex class I heavy chain. Biochemistry. 2001 May 01; 40(17):5233-42.
- The isolated major histocompatibility complex class I alpha3 domain binds beta2m and CD8alphaalpha dimers. Mol Immunol. 2000 Feb-Mar; 37(3-4):141-9.
- ICAM-1 co-stimulation has differential effects on the activation of CD4+ and CD8+ T cells. Eur J Immunol. 1999 03; 29(3):809-14.
- Duane Syndrome. GeneReviews®. 1993.
- Congenital Fibrosis of the Extraocular Muscles. GeneReviews®. 1993.
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