My research.

[TaO!]

Being a science forum and all, and getting tired of discussing non-science, thought I might share some of my research.

I’m looking at an inherited eye disease which affects the retina that mostly follows a dominant inheritance pattern. Typically patients lose their night vision first, then their mid peripheral vision, which slowly degenerates to complete blindness.

The disease.

The disease is retinitis pigmentosa. The pathology is long and complicated depending on particular alleles but here’s a brief explanation from my research proposal (references removed):

Initial morphological examination of the RPE shows atrophic change, including wrinkling of the inner limiting membrane or cystoid macular edema followed by the appearance of pigment granules in the retinal vascular layer and around Muller cells causing perivascular, paravenular and midperipheral clusters. The fundus also shows arteriolar attenuation and waxy pallor of the optic disc and myopia is commonly associated with RP. Pigment granule clustering is melanin deposition in the retina following RPE cell detachment from Bruch’s membrane. Protein aggregation is a characteristic feature of RP and other chronic neurological diseases.

If that’s complete gibberish, here’s a picture of the fundus of an affected with reasonably severe RP, which basically shows what is described above, and a picture of an unaffected individual :





The project

We only know bits and pieces of how this occurs and there’s essentially no data available on the particular mutations that cause this in our population so the aim of the study is to:

1) Characterise (sequence) the genes we think are involved and look for known and novel mutations.

2) Assess how these mutations affect the folding of the protein, sequence motifs or binding affiliations using in silico (computers) methods.

3) Relate these changes to electrophysiological, psychophysical and pathological findings.

4) Be able to give patients more informative prognosis/genetic couseling for their disease.

It's really much simpler than it sounds.

[noboundaries-au]

So basically the cells in the retina begin producing pigment for no apparent reason, and ur research is to find the cause, and other things such as how likely children are to get it from parents through their genes, etc?

[domlebo]

Originally Posted by TaO!

4) Be able to give patients more informative prognosis/genetic couseling for their disease.

I'm interested in what you mean by genetic counselling. What does that mean?

[TaO!]

Originally Posted by noboundaries-au

So basically the cells in the retina begin producing pigment for no apparent reason, and ur research is to find the cause, and other things such as how likely children are to get it from parents through their genes, etc?

The retina already has pigment cells. The particular mutant proteins in the picture cause detachment of a layer of cells causing the clumping and mottling you see.

We look at the inheritance throughout families to see what the most likely mutation might be, which is determined from other populations.

[noboundaries-au]

http://en.wikipedia.org/wiki/Retinitis_pigmentosa - Wikipedia article for a quick overview for everyone

[TaO!]

Originally Posted by domlebo

I'm interested in what you mean by genetic counselling. What does that mean?

Certain forms of the disease are more aggressive than others but we haven't associated particular mutations with more or less aggressive presentations yet. If we know more about how particular mutation present themselves, we can counsell patients on what to expect. You can imagine being told "You're going blind, but we don't know when," might be fairly scary.

[Goth]

Sorry for the hijack, but i like your idea.

We need a consolidated so-what's-your-research-area thread for everyone. Everyone who's a researcher or research student, that is.

Cheers.

[supra_mkIV]

Nice project!

Last year I did an honours (computer science) on retinal image analysis where we attempted to find a way to digitally quantify the vascular tortuosity of diabetic/normal patients, also came up with some other good stuff . We worked with the royal victorian eye and ear hospital. PM me if ur interested in hearing me babble on more about it Also, I still have quite alot resources on various retina-related publications and links to free-hi-res images which may also relate to your project since it is another form of retinopathy (apologies if terminology is incorrect, i am, after all, a computer scientist and not an ophthalmologist ). Good luck with your project! and I second the notion of creating a special "your research area thread".

[TaO!]

Originally Posted by supra_mkIV

I still have quite alot resources on various retina-related publications and links to free-hi-res images which may also relate to your project since it is another form of retinopathy

Awesome! Another piece of the phenotype to look at. I'd love a look at them if they're online?