Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye
Sickle cell disease (SCD) exists on a phenotypic spectrum with variable genetic expressivity, making it difficult to assess an individual patient’s risk of complications at any particular point in time. Current and emerging SCD treatments, including CRISPR-based gene editing, result in a variable pr...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2022/6079631 |
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| author | Alexander Pinhas Davis B. Zhou Oscar Otero-Marquez Maria V. Castanos Toral Justin V. Migacz Jeffrey Glassberg Richard B. Rosen Toco Y. P. Chui |
| author_facet | Alexander Pinhas Davis B. Zhou Oscar Otero-Marquez Maria V. Castanos Toral Justin V. Migacz Jeffrey Glassberg Richard B. Rosen Toco Y. P. Chui |
| author_sort | Alexander Pinhas |
| collection | DOAJ |
| description | Sickle cell disease (SCD) exists on a phenotypic spectrum with variable genetic expressivity, making it difficult to assess an individual patient’s risk of complications at any particular point in time. Current and emerging SCD treatments, including CRISPR-based gene editing, result in a variable proportion of affected red blood cells (RBCs) still vulnerable to sickling. Clinical serological indicators of disease such as hemoglobin, indirect bilirubin, and reticulocyte count and clinical metrics including number of emergency department visits and hospitalizations over time often fall short in their ability to objectively quantify ischemic disease activity and efficacy of treatments. Clearly, better clinical biomarkers are needed. The rapidly developing field of oculomics leverages the transparent nature of the ocular tissue to directly study the retinal microvasculature in order to characterize the status of systemic diseases. In this case report, we demonstrate the ability of optical coherence tomography angiography (OCT-A) to detect and measure micro-occlusive events within the retinal capillary bed before and after RBC exchange transfusion and following CRISPR-based gene editing, as an indicator of systemic ischemic disease activity and measure of treatment efficacy. The implications of these findings are discussed. |
| format | Article |
| id | doaj-art-c5356ecdd67f4a539891e6615e92b116 |
| institution | DOAJ |
| issn | 2090-6579 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-c5356ecdd67f4a539891e6615e92b1162025-08-20T03:22:41ZengWileyCase Reports in Hematology2090-65792022-01-01202210.1155/2022/6079631Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the EyeAlexander Pinhas0Davis B. Zhou1Oscar Otero-Marquez2Maria V. Castanos Toral3Justin V. Migacz4Jeffrey Glassberg5Richard B. Rosen6Toco Y. P. Chui7Department of OphthalmologyDepartment of OphthalmologyDepartment of OphthalmologyDepartment of OphthalmologyDepartment of OphthalmologyDepartments of Emergency Medicine,Hematology and Medical OncologyDepartment of OphthalmologyDepartment of OphthalmologySickle cell disease (SCD) exists on a phenotypic spectrum with variable genetic expressivity, making it difficult to assess an individual patient’s risk of complications at any particular point in time. Current and emerging SCD treatments, including CRISPR-based gene editing, result in a variable proportion of affected red blood cells (RBCs) still vulnerable to sickling. Clinical serological indicators of disease such as hemoglobin, indirect bilirubin, and reticulocyte count and clinical metrics including number of emergency department visits and hospitalizations over time often fall short in their ability to objectively quantify ischemic disease activity and efficacy of treatments. Clearly, better clinical biomarkers are needed. The rapidly developing field of oculomics leverages the transparent nature of the ocular tissue to directly study the retinal microvasculature in order to characterize the status of systemic diseases. In this case report, we demonstrate the ability of optical coherence tomography angiography (OCT-A) to detect and measure micro-occlusive events within the retinal capillary bed before and after RBC exchange transfusion and following CRISPR-based gene editing, as an indicator of systemic ischemic disease activity and measure of treatment efficacy. The implications of these findings are discussed.http://dx.doi.org/10.1155/2022/6079631 |
| spellingShingle | Alexander Pinhas Davis B. Zhou Oscar Otero-Marquez Maria V. Castanos Toral Justin V. Migacz Jeffrey Glassberg Richard B. Rosen Toco Y. P. Chui Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye Case Reports in Hematology |
| title | Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye |
| title_full | Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye |
| title_fullStr | Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye |
| title_full_unstemmed | Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye |
| title_short | Efficacy of CRISPR-Based Gene Editing in a Sickle Cell Disease Patient as Measured through the Eye |
| title_sort | efficacy of crispr based gene editing in a sickle cell disease patient as measured through the eye |
| url | http://dx.doi.org/10.1155/2022/6079631 |
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