In This Video
- Rachel M. Huckfeldt, MD, PhD, is a clinician scientist and director of the Inherited Retinal Degenerations Fellowship at Mass Eye and Ear/Massachusetts General Hospital Department of Ophthalmology
- Inherited retinal disorders are a genetically heterogeneous group of previously untreatable diseases that typically cause progressive vision loss resulting in blindness
- Dr. Huckfeldt and her colleagues on the Inherited Retinal Disorders Service work collaboratively to better understand the genetic basis of these diseases and work towards genetic treatments, including gene replacement and genome editing
- The Inherited Retinal Disorders team currently have several first-in-human clinical trials of gene replacement and other genetic therapies, including Crispr/Cas9 genome editing, for patients with hereditary retinal disorders
Rachel M. Huckfeldt, MD, PhD, is a clinician scientist and director of the Inherited Retinal Degenerations Fellowship at Mass Eye and Ear/Massachusetts General Hospital Department of Ophthalmology and an assistant professor of ophthalmology at Harvard Medical School. In the video, Dr. Huckfeldt shares how she and her colleagues work collaboratively to better understand the genetic basis of inherited retinal diseases and work towards genetic treatments, including gene replacement and genome editing. This work includes several first-in-human clinical trials.
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Hereditary retinal diseases are conditions that typically cause progressive vision loss and result in blindness. These conditions are currently untreatable, but as we better understand their genetic basis and begin to devise genetic treatments, including gene replacement and genome editing, we hope to be able to help these patients to protect and even improve their vision. My clinician colleagues and I work collaboratively within our Inherited Retinal Disorders Clinic to conduct clinical trials, and we work in close collaboration with the Ocular Genomics Institute at Mass Eye and Ear to make advances in genetic diagnosis and treatments.
The hereditary retinal disorders that my patients have can have extraocular manifestations, too. We feel fortunate to have colleagues at Mass General in departments including neurology, medical genetics, and others to help us in the care of these often complex patients.
In the Inherited Retinal Disorders Service, we currently have numerous first-in-human phase 1 and 2 trials of gene replacement and other genetic therapies for patients with hereditary retinal disorders. These therapies are testing strategies for the genetic treatment of these diseases including gene replacement, but they are also moving into genome editing and the first use of CRISPR-Cas in vivo as well as moving beyond DNA to try to use therapies like antisense oligonucleotides that act at an RNA level.
With these trials and with the early results from them and those that will hopefully follow, we hope to bring more advanced therapeutics to our patients.
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