It is estimated that 4000 genetic diseases/syndromes affect humans with one third of these diseases involving the eye. Many eye disorders, such as age-related macular degeneration that affects an estimated 170 million elderly adults worldwide, are associated with genetic variants. Since the conception of the human genome project we have learned a great deal about the genetic make-up of the human race and have identified over ~20,000 genes. Over 270 of these genes have been implicated in retinal diseases alone with many more genes involved in other forms of ocular disease. Though we have made a great deal of progress in understanding the genetics of eye disease, there remain many eye diseases with significant evidence of genetic components for which a disease-causing gene has not been identified.
In my thesis research, I utilized computational tools and strategies to analyze microarrays and whole-exome sequencing to investigate the genetic causes of three different eye diseases. First, I utilized a combination of familial analyses and whole-exome sequencing to study the genetic cause of Keratoconus, a progressive cornea abnormality that can lead to distorted vision and light sensitivity. Second, I analyzed three different cohorts of patients with Bardet-Biedl syndrome (BBS), a syndromic retinopathy leading to blindness, using whole-exome sequencing to identify both known and novel genetic causes of BBS. Finally, I performed the largest whole-exome sequencing study at the time for Pigment Dispersion Syndrome (PDS), a disorder associated with glaucoma, and identified variants within previously established candidate genes and a novel candidate gene that is now the subject of further scientific investigation.
By using computational tools and strategies in tandem with high-quality bench research performed by fellow lab members, we have identified both candidate and known eye disease-causing genes/mutations and furthered the goal to cure blindness.
| Identifer | oai:union.ndltd.org:uiowa.edu/oai:ir.uiowa.edu:etd-8240 |
| Date | 01 May 2019 |
| Creators | Goar, Wesley Andrew |
| Contributors | Scheetz, Todd E., Sheffield, Val C. (Val Cowley), 1951- |
| Publisher | University of Iowa |
| Source Sets | University of Iowa |
| Language | English |
| Detected Language | English |
| Type | dissertation |
| Format | application/pdf |
| Source | Theses and Dissertations |
| Rights | Copyright © 2019 Wesley Andrew Goar |
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