1. Chapter 1: Chromosome 1 mRNA transcription translation Amino acid sequence DNA Sequence Name of Gene Chromosome What does this protein make up or do? Condition/Disease ABCA4 1 128,313 ATP-binding cassette, sub- family A (ABC1), member 4 2273 aa It makes the light turn into what we see in front of us, sends vision to brain Stargardt macular degeneration

2. Description of Glaucoma Symptoms and characteristics Symptoms and characteristics Stargardt macular degeneration is an eye disease in whichIf there is a faulty ABCA4 gene, it leads to the build-up of a toxic waste product known as A2E in the retinal pigment epithelium (RPE), and can lead to macular degeneration and progressive loss of vision. Stargardt macular degeneration is an eye disease in whichIf there is a faulty ABCA4 gene, it leads to the build-up of a toxic waste product known as A2E in the retinal pigment epithelium (RPE), and can lead to macular degeneration and progressive loss of vision. Central vision is usually the first affected, first symptom is often difficulty reading. Central vision is usually the first affected, first symptom is often difficulty reading. copy of the ABCA4 gene can be engineered in the laboratory. This can then be injected into the eye of an affected individual, delivering the correct copy of the gene and therefore stopping the degeneration of the sight of the individual copy of the ABCA4 gene can be engineered in the laboratory. This can then be injected into the eye of an affected individual, delivering the correct copy of the gene and therefore stopping the degeneration of the sight of the individual Stargardt macular degeneration is detected by damages the macula, the part of the retina responsible for central vision Stargardt macular degeneration is detected by damages the macula, the part of the retina responsible for central vision Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma /glaucoma_facts.asp

3. Description of Glaucoma (cont.) Who is affected? Anyone, but the following have a higher risk: Who is affected? Anyone, but the following have a higher risk: people over 65.1,2 people over 65.1,2 Everyone over the age of 60, and older Everyone over the age of 60, and older People with a family history of Stargardt macular degeneration People with a family history of Stargardt macular degeneration Outlook or quality of life Outlook or quality of life With early treatment, eyes may be protected from serious vision loss With early treatment, eyes may be protected from serious vision loss Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness). Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness). Researcher: EG Researcher: EG

4. References. http://ghr.nlm.nih.gov/gene/ABCA4. http://ghr.nlm.nih.gov/gene/ABCA4http://ghr.nlm.nih.gov/gene/ABCA4 The end The end