Rachel M. Huckfeldt,
MD, PhD
Massachusetts Eye and Ear
Assistant Scientist
Harvard Medical School
Assistant Professor of Ophthalmology
rachel_huckfeldt@meei.harvard.edu
For investigator inquiries only
About My Research
Center/Research Area Affiliations
Biography
Dr. Huckfeldt’s clinically oriented research focuses on improving the care and visual outcomes of patients with inherited retinal diseases (IRDs). Her current research focuses on understanding pathways leading to retinal degeneration and improving the clinical care of patients with retinitis pigmentosa-associated cystoid macular edema. These projects have the potential to increase our understanding of RP and other inherited orphan retinal degenerations. Dr. Huckfeldt also leads Mass Eye and Ear’s participation in a number of clinical trials assessing gene therapies for the treatment of IRDs.
Education
2001: BA, Biology and Psychology, summa cum laude, Washington University in St. Louis
2009: MD, Washington University in St. Louis
2009: PhD, Neuroscience, Washington University in St. Louis
Postgraduate Training
2009-2010: Internship, Newton-Wellesley Hospital
2010-2013: Residency, Harvard Medical School Department of Ophthalmology
2013-2014: Postdoctoral Research Fellowship, Therapeutics for inherited retinal disease, University of Pennsylvania
2014-2015: Fellowship, Medical Retina, University of Iowa
Academic Appointments
2015-present: Instructor in Ophthalmology, Harvard Medical School
Professional Memberships
American Academy of Ophthalmology
Association for Research in Vision and Ophthalmology
New England Ophthalmological Society
Honors
1997-2001: Washington University Lien Scholar
2001: Phi Beta Kappa
2001: Stern Award for Undergraduate Research; Washington University Department of Psychology
2009: Alpha Omega Alpha
2010: Newton-Wellesley Hospital Hospitalist Award for Excellence on the Medicine Service
2011: ARVO/NEI Travel Award
2012: Heed Resident Retreat Attendee
Publications powered by Harvard Catalyst Profiles
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Res Sq. 2024 Feb 09.
- RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy. Ophthalmic Genet. 2024 Jan 15; 1-5.
- Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor. Stem Cell Res. 2024 02; 74:103280.
- KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. Br J Ophthalmol. 2023 Oct 18.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI Insight. 2023 08 08; 8(15).
- Macular dystrophy with associated retinitis pigmentosa-1 like 1 genetic mutation. Clin Exp Optom. 2023 May 08; 1-3.
- Long-lived autoreactive memory CD4+ T cells mediate the sustained retinopathy in chronic autoimmune uveitis. FASEB J. 2023 04; 37(4):e22855.
- Disparities in Inherited Retinal Degenerations. Semin Ophthalmol. 2023 Feb; 38(2):201-206.
- Retinal Manifestations in Spinocerebellar Ataxia Type 3. J Neuroophthalmol. 2024 Mar 01; 44(1):e3-e5.
- RNA-based therapies in inherited retinal diseases. Ther Adv Ophthalmol. 2022 Jan-Dec; 14:25158414221134602.
- The Effect of Sample Medication Use on Subsequent Anti-VEGF Agent Selection for Neovascular Age-Related Macular Degeneration. Semin Ophthalmol. 2022 Oct-Nov; 37(7-8):902-908.
- Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial. Ophthalmology. 2022 10; 129(10):1177-1191.
- Restoration of Vision and Retinal Responses After Adeno-Associated Virus-Mediated Optogenetic Therapy in Blind Dogs. Transl Vis Sci Technol. 2022 05 02; 11(5):24.
- RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY. Retin Cases Brief Rep. 2023 Sep 01; 17(5):533-537.
- Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 06; 43(3):332-339.
- Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa. Genes (Basel). 2021 11 23; 12(12).
- Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. Ophthalmic Surg Lasers Imaging Retina. 2021 08; 52(8):450-453.
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021 Jun 29; 6(1):53.
- Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27.
- Antisense Oligonucleotide Therapy for Ophthalmic Conditions. Semin Ophthalmol. 2021 Aug 18; 36(5-6):452-457.
- KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol. 2021 10; 230:1-11.
- Gene editing technology: Towards precision medicine in inherited retinal diseases. Semin Ophthalmol. 2021 May 19; 36(4):176-184.
- KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. Am J Ophthalmol. 2021 05; 225:95-107.
- The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 10; 9(11):9.
- Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration. J Vitreoretin Dis. 2021 Mar-Apr; 5(2):147-156.
- Characterization of Clinical and Immune Responses in an Experimental Chronic Autoimmune Uveitis Model. Am J Pathol. 2021 03; 191(3):425-437.
- Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433.
- BEST1-One Gene, Many Diseases. JAMA Ophthalmol. 2020 05 01; 138(5):552.
- Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 02; 6(1).
- Progressive Maculopathy After Discontinuation of Pentosan Polysulfate Sodium. Ophthalmic Surg Lasers Imaging Retina. 2019 10 01; 50(10):656-659.
- Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. Am J Ophthalmol Case Rep. 2019 Sep; 15:100461.
- Gene therapy for inherited retinal degenerations: initial successes and future challenges. J Neural Eng. 2017 10; 14(5):051002.
- Management of Cystoid Macular Edema in Retinitis Pigmentosa. Semin Ophthalmol. 2017; 32(1):43-51.
- Evaluation of Dose and Safety of AAV7m8 and AAV8BP2 in the Non-Human Primate Retina. Hum Gene Ther. 2017 02; 28(2):154-167.
- Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. JAMA Ophthalmol. 2016 May 01; 134(5):580-583.
- TREATMENT OF RETINOPATHY AND MACULAR EDEMA SECONDARY TO A CAROTID-CAVERNOUS FISTULA. Retin Cases Brief Rep. 2016; 10(3):225-8.
- Sterile subperiosteal fluid collections accompanying orbital wall infarction in sickle-cell disease. J AAPOS. 2014 Oct; 18(5):485-7.
- Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter. EMBO Mol Med. 2014 Sep; 6(9):1175-90.
- Promising first steps in gene therapy for choroideremia. Hum Gene Ther. 2014 Feb; 25(2):96-7.
- Neuroprotection for retinal detachment. Int Ophthalmol Clin. 2013; 53(4):105-17.
- Assembly of the outer retina in the absence of GABA synthesis in horizontal cells. Neural Dev. 2010 Jun 18; 5:15.
- Transient neurites of retinal horizontal cells exhibit columnar tiling via homotypic interactions. Nat Neurosci. 2009 Jan; 12(1):35-43.
- Imaging techniques in retinal research. Exp Eye Res. 2005 Mar; 80(3):297-306.
- Circadian entrainment to temperature, but not light, in the isolated suprachiasmatic nucleus. J Neurophysiol. 2003 Aug; 90(2):763-70.
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