|Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
|Year of Publication
|Velez, Gabriel, and Mahajan Vinit B.
|2020 Nov 20
Rare diseases are an emerging global health priority. Although individually rare, the prevalence of rare "orphan" diseases is high, affecting approximately 300 million people worldwide. Treatments for these conditions are often inadequate, leaving the disease to progress unabated. Here, we review the clinical features and pathophysiology of neovascular inflammatory vitreoretinopathy (NIV), a rare inflammatory retinal disease caused by mutations in the gene. Although the prevalence of NIV is low (1 in 1,000,000 people), the disease mimics more common causes of blindness (e.g. uveitis, retinitis pigmentosa, proliferative diabetic retinopathy, and proliferative vitreoretinopathy) at distinct clinical stages. There is no cure for NIV to date. We highlight how personalized proteomics helped identify potential stage-specific biomarkers and drug targets in liquid vitreous biopsies. The NIV vitreous proteome revealed enrichment of molecular pathways associated with common retinal pathologies and implicated superior targets for therapeutic drug repositioning. In addition, we review our pipeline for collecting, storing, and analyzing ophthalmic surgical samples. This approach can be adapted to treat a variety of rare genetic diseases.
|PubMed Central ID
|R21 AG050437 / AG / NIA NIH HHS / United States
P30 EY002687 / EY / NEI NIH HHS / United States
R01 EY024665 / EY / NEI NIH HHS / United States
R01 EY024698 / EY / NEI NIH HHS / United States
R01 EY025225 / EY / NEI NIH HHS / United States
T32 GM007337 / GM / NIGMS NIH HHS / United States