RachelMHuckfeldtMDPhD

Ophthalmology • Boston, MA

Retinal Disease

Assistant Professor, Ophthalmology, Harvard Medical School

Join to view full profile

Dr. Huckfeldt is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Connect with other colleagues in the same hospital or clinic
Search all U.S. specialist profiles and refer a patient
Read the latest clinical news and earn CME/CEU credits

See Dr. Huckfeldt's full profile

Already have an account?

Office
Massachusetts Eye and Ear Infirmary
243 Charles Street
Boston, MA 02114
Phone+1 617-573-3621
Is this information wrong?

Education & Training

Massachusetts Eye and Ear Infirmary/Harvard Medical SchoolResidency, Ophthalmology, 2010 - 2013
Washington University in St. Louis School of MedicineClass of 2009, MD, PhD
University of Iowa Hospitals and ClinicsFellowship, Medical Retina
Newton-Wellesley HospitalInternship, Transitional Year
University of PennsylvaniaPostdoctoral Research, Ophthalmology
Massachusetts Eye and EarFellowship, Inherited Retinal Degenerations

Certifications & Licensure

MA State Medical License 2015 - 2025
IA State Medical License 2014 - 2016
PA State Medical License 2013 - 2014
American Board of Ophthalmology Ophthalmology

Clinical Trials

Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial) Start of enrollment: 2017 Aug 03
Active, not recruiting
Phase 1, Phase 2
Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Start of enrollment: 2020 Dec 04
Active, not recruiting
Phase 3

Publications & Presentations

PubMed

Coding and non-coding variants in the ciliopathy genecause early-onset non-syndromic retinal degeneration.
Sangermano, R., Gupta, P., Price, C., Han, J., Navarro, J., Condroyer, C., Place, E., Antonio, A., Mukai, S., Zanlonghi, X., Sahel, J., Duncan, J., Pierce, E., Zeitz, ...> ;Research Square. 2024 Feb 9
-associated non-syndromic optic neuropathy and rod-cone dystrophy.
O'Connell, K., Sullivan, J., Gupta, P., Huckfeldt, R.> ;Ophthalmic Genetics. 2024 Jan 15
Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor.
Zhang, H., Daheron, L., Cerna-Chavez, R., Place, E., Garita-Hernandez, M., Huckfeldt, R., Pierce, E.> ;Stem Cell Research. 2024 Feb 1
1 citations
-associated retinopathy: genotype-phenotype correlations -study group report 3.
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Varg...> ;The British Journal of Ophthalmology. 2023 Oct 18
RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY.
Eva Raparia, Brian G Ballios, Emily M Place, Deeba Husain, Rachel M Huckfeldt> ;Retinal Cases & Brief Reports. 2023 Sep 1
Macular dystrophy with associated retinitis pigmentosa-1 like 1 genetic mutation.
Eni Nano, Elina Baskin, Paul B Greenberg, Rachel M Huckfeldt, Amanda Hunter> ;Clinical & Experimental Optometry. 2023 May 8
2 citations
Long-lived autoreactive memory CD4T cells mediate the sustained retinopathy in chronic autoimmune uveitis.
Nai-Wen Fan, Qiurong Zhu, Shudan Wang, Gustavo Ortiz, Rachel M Huckfeldt, Yihe Chen> ;FASEB Journal. 2023 Apr 1
Disparities in Inherited Retinal Degenerations.
Sarah Chorfi, Emily M Place, Rachel M Huckfeldt> ;Seminars in Ophthalmology. 2023 Feb 1
10 citations
RNA-based therapies in inherited retinal diseases.
Aniz Girach, Isabelle Audo, David G Birch, Rachel M Huckfeldt, Byron L Lam, Bart P Leroy, Michel Michaelides, Stephen R Russell, Juliana M F Sallum, Katarina Stingl, P...> ;Therapeutic Advances in Ophthalmology. 2022 Nov 4
The Effect of Sample Medication Use on Subsequent Anti-VEGF Agent Selection for Neovascular Age-Related Macular Degeneration.
Wai, K., Begaj, T., Patil, S., Chen, E., Miller, J., Kylstra, J., Aronow, M., Young, L., Huckfeldt, R., Husain, D., Kim, L., Vavvas, D., Eliott, D., Mukai, S., Gragoud...> ;Seminars in Ophthalmology. 2022 Aug 3
9 citations
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.
Tomas S Aleman, Rachel M Huckfeldt, Leona W Serrano, Denise J Pearson, Grace K Vergilio, Sarah McCague, Kathleen A Marshall, Manzar Ashtari, Tu M Doan, Carol A Weigel-...> ;Ophthalmology. 2022 Oct 1
5 citations
Restoration of Vision and Retinal Responses After Adeno-Associated Virus-Mediated Optogenetic Therapy in Blind Dogs.
Sergei Nikonov, Puya Aravand, Arkady Lyubarsky, Roman Nikonov, Angela J Luo, Zhangyong Wei, Albert M Maguire, Nicholas T Phelps, Ivan Shpylchak, Keirnan Willett, Tomas...> ;Translational Vision Science & Technology. 2022 May 2
2 citations
Novelvariants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Andrew J Catomeris, Brian G Ballios, Riccardo Sangermano, Naomi E Wagner, Jason I Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Rachel M Huckfeldt> ;Ophthalmic Genetics. 2022 Jun 1
5 citations
Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis P...
Brian G. Ballios, Emily Place, Luis Martinez-Velazquez, Eric A. Pierce, Jason Comander, Rachel M. Huckfeldt> ;Genes. 2021 Nov 23
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
Alyse J Richard, Rachel M. Huckfeldt, Elias Reichel, Michelle C. Liang> ;Ophthalmic Surgery, Lasers & Imaging Retina. 2021 Aug 1
6 citations
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily Place, Erin Zampaglione, Naomi E Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, ...> ;NPJ Genomic Medicine. 2021 Jun 29
10 citations
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
Mariana Matioli da Palma, Austin D. Igelman, Cristy A. Ku, Amanda Burr, Jia Yue You, Emily Place, Nan-Kai Wang, Jin Kyun Oh, Kari Branham, Xinxin Zhang, Jeeyun Ahn, Mi...> ;Investigative Ophthalmology & Visual Science. 2021 Jun 1
7 citations
Antisense Oligonucleotide Therapy for Ophthalmic Conditions.
Kevin Ferenchak, Iris Deitch, Rachel M. Huckfeldt> ;Seminars in Ophthalmology. 2021 May 19
8 citations
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E Vargas, Alberta A H J Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Th...> ;American Journal of Ophthalmology. 2021 Mar 15
2 citations
Gene editing technology: Towards precision medicine in inherited retinal diseases.
Brian G. Ballios, Eric A. Pierce, Rachel M. Huckfeldt> ;Seminars in Ophthalmology. 2021 Feb 23
11 citations
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun Michael Leo, Ajoy Vincent, Fadi Nasser, Thales Antonio Cabral de Guimaraes, Samer Khateb, Nikolas Pontikos,...> ;American Journal of Ophthalmology. 2021 May 1
24 citations
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
David G. Birch, Peiyao Cheng, Jacque L. Duncan, Allison R Ayala, Maureen G. Maguire, Isabelle Audo, Janet K. Cheetham, Todd Durham, Abigail T. Fahim, Frederick L. Ferr...> ;Translational Vision Science & Technology. 2020 Oct 8
2 citations
Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration.
Elli A Park, Rachel M Huckfeldt, Jason I Comander, Lucia Sobrin> ;Journal of Vitreoretinal Diseases. 2020 Sep 21
5 citations
Characterization of Clinical and Immune Responses in an Experimental Chronic Autoimmune Uveitis Model.
Nai-Wen Fan, Joy Li, Sharad K. Mittal, William Foulsham, Elsayed Elbasiony, Rachel M. Huckfeldt, Sunil K. Chauhan, Yihe Chen> ;The American Journal of Pathology. 2021 Mar 1
10 citations
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Rachel M. Huckfeldt, Florin Grigorian, Emily Place, Jason Comander, Demetrios G. Vavvas, Lucy H. Young, Paul Yang, Maria Shurygina, Eric A. Pierce, Mark E. Pennesi> ;Molecular Vision. 2020 Jun 3
Join now to see all

Press Mentions

AGTC Reports 12-Month Data from Its Ongoing Phase 1/2 Achromatopsia Clinical Trials Showing Biologic Activity in Patients with Mutations in the ACHM B3 GeneJune 24th, 2021
Foundation Fighting Blindness to Jointly Host Online Continuing Medical Education (CME, COPE) WebinarSeptember 24th, 2020
Mass General Research Awards and Honors: October 2018November 15th, 2018
Join now to see all