@article {2070, title = {Liquid Biopsy Proteomics in Ophthalmology.}, journal = {J Proteome Res}, volume = {23}, year = {2024}, month = {2024 Feb 02}, pages = {511-522}, abstract = {

Minimally invasive liquid biopsies from the eye capture locally enriched fluids that contain thousands of proteins from highly specialized ocular cell types, presenting a promising alternative to solid tissue biopsies. The advantages of liquid biopsies include sampling the eye without causing irreversible functional damage, potentially better reflecting tissue heterogeneity, collecting samples in an outpatient setting, monitoring therapeutic response with sequential sampling, and even allowing examination of disease mechanisms at the cell level in living humans, an approach that we refer to as TEMPO (Tracing Expression of Multiple Protein Origins). Liquid biopsy proteomics has the potential to transform molecular diagnostics and prognostics and to assess disease mechanisms and personalized therapeutic strategies in individual patients. This review addresses opportunities, challenges, and future directions of high-resolution liquid biopsy proteomics in ophthalmology, with particular emphasis on the large-scale collection of high-quality samples, cutting edge proteomics technology, and artificial intelligence-supported data analysis.

}, keywords = {Artificial Intelligence, Biopsy, Humans, Liquid Biopsy, Ophthalmology, Proteins, Proteomics}, issn = {1535-3907}, doi = {10.1021/acs.jproteome.3c00756}, author = {Wolf, Julian and Franco, Joel A and Yip, Rui and Dabaja, Mohamed Ziad and Velez, Gabriel and Liu, Fei and Bassuk, Alexander G and Mruthyunjaya, Prithvi and Dufour, Antoine and Mahajan, Vinit B} } @article {2021, title = {REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.}, journal = {Retina}, volume = {42}, year = {2022}, month = {2022 11 01}, pages = {2025-2030}, abstract = {

PURPOSE: To propose a working framework for patients with inherited eye diseases presenting to ophthalmologists who are interested in assisted reproductive technology and preimplantation genetic testing.

METHODS: Retrospective chart review and case series of three families with inherited eye diseases who successfully underwent preimplantation genetic testing, in vitro fertilization, and birth of unaffected children.

RESULTS: Preimplantation genetic testing was performed for three families with different inherited eye diseases, which included autosomal dominant retinitis pigmentosa, autosomal recessive achromatopsia, and X-linked Goltz syndrome. Preimplantation genetic testing led to the identification of unaffected embryos, which were then selected for in vitro fertilization and resulted in the birth of unaffected children.

CONCLUSION: A close collaboration between patients, families, ophthalmologists, reproductive genetic counselors, and reproductive endocrinology and infertility specialists is the ideal model for taking care of patients interested in preimplantation genetic testing for preventing the transmission of inherited eye diseases.

}, keywords = {Child, Eye Diseases, Hereditary, Female, Fertilization in Vitro, Humans, Ophthalmology, Pregnancy, Preimplantation Diagnosis, Retrospective Studies}, issn = {1539-2864}, doi = {10.1097/IAE.0000000000003591}, author = {Park, Jong G and Xu, Christine L and Boyd, Allison and Aghajanova, Lusine and Mahajan, Vinit B and Wood, Edward H} } @article {978, title = {CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.}, journal = {Retina}, volume = {38}, year = {2018}, month = {2018 08}, pages = {1443-1455}, abstract = {

PURPOSE: Recent concerns regarding the clinical utilization of clustered regularly interspaced short palindromic repeats (CRISPR) involve uncertainties about the potential detrimental effects that many arise due to unintended genetic changes, as in off-target mutagenesis, during CRISPR genome surgery. This review gives an overview of off-targeting detection methods and CRISPR{\textquoteright}s place in the clinical setting, specifically in the field of ophthalmology.

RESULTS: As CRISPR utilization in the laboratory setting has increased, knowledge regarding CRISPR mechanisms including its off-target effects has also increased. Although a perfect method for achieving 100\% specificity is yet to be determined, the past few years have seen many developments in off-targeting detection and in increasing efficacy of CRISPR tools.

CONCLUSION: The CRISPR system has high potential to be an invaluable therapeutic tool as it has the ability to modify and repair pathogenic retinal lesions. Although it is not yet a perfect system, with further efforts to improve its specificity and efficacy along with careful screening of off-target mutations, CRISPR-mediated genome surgery potential can become maximized and applied to patients.

}, keywords = {Clustered Regularly Interspaced Short Palindromic Repeats, Gene Editing, Genetic Therapy, Humans, Ophthalmology, Retinal Diseases}, issn = {1539-2864}, doi = {10.1097/IAE.0000000000002197}, author = {Cho, Galaxy Y and Schaefer, Kellie A and Bassuk, Alexander G and Tsang, Stephen H and Mahajan, Vinit B} }