Wikipedia talk:WikiProject Medical Genetics/Guidelines

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Ok, before improving list of articles to be rated; and before continue my work, I have some questions. First, we should write our guidelines:

• What disorders to care about in that project? Monogene, polygene? Autosomal, sex chromosome linked?
• Should I list all of the disorders in Genetic disorders category, or just the important ones? It's about 300 articles with all subcategories.

NCurse _work 21:38, 11 July 2006 (UTC)

And should we talk about chromosomes? NCurse _work 16:31, 12 July 2006 (UTC)

The Guidelines page has been started, but needs more work. The project probably should include all disorders to have an idea of the potential scope of the task - who else is going to do it? The individual chromosomes could also do with some relevant medical input. The {{genetic-disorder-stub}} template is mentioned, although this has not been finally agreed as yet. --apers0n 09:24, 13 July 2006 (UTC)

Good start. I improved it a bit. The stub type is not a final version. They don't want to accept it. :)

Contents 1 Image for autosomal recessive articles 2 Other images 3 Request for suggestions 4 Looking for some good general references 5 SVG 6 Request

[edit] Image for autosomal recessive articles

This image is currently being used in 7 articles:

Image:Autorecessive.png

Should it be used in all relevant articles? --apers0n 08:43, 20 July 2006 (UTC)

Yes, it should be. And what about the same image for autosomal dominant forms? NCurse _work 17:01, 20 July 2006 (UTC)

I've made a search for autosomal dominant expression and started to put that image into the articles. I'm over the first page of the search . I'll continue. If someone want to help, I'm here now. NCurse _work 16:19, 21 July 2006 (UTC)

[edit] Other images

Other images used to describe autorecessive elsewhere:

Tay-Sachs disease

Recessive gene

Recently uploaded

Autodominant:

Recently uploaded

Already used

...and X-linkage (I found some more on ghr.nlm.nih.gov):

X-linked dominant inheritance, affected mother

X-linked dominant inheritance, affected father

X-linked recessive inheritance, carrier mother

X-linked recessive inheritance, affected father

Others:

Codominant inheritance

Mitochondrial inheritance

--apers0n 07:45, 23 July 2006 (UTC)

Cool! Should I create an Images subpage for the project? NCurse _work 09:01, 23 July 2006 (UTC)

Or add all the relevant images to a category and link to that category page. --apers0n 09:16, 24 July 2006 (UTC)

Ok, for example Category:Medical Genetics Images? Or what else? NCurse _work 12:09, 24 July 2006 (UTC)

The category Category:Medical genetics images now exists as a subcategory of Category:Medical genetics --apers0n 15:00, 24 July 2006 (UTC)

Great! Thanks! :) NCurse _work 15:19, 24 July 2006 (UTC)

There are now four autorecessive images being used. I would like to suggest deleting two of them as being of lower quality that the other two. Specifically, I would like to delete the bottom two on this table. I am not sure about the second one, since it seems to be part of a series, and this may be relevant.

Regarding the table headings:

• Color - I think the color scheme of blue for normal red for affected and purple for carrier makes sense since purple is a combination of blue and red. Probably even better is the method in the second from the top where the colors are white, blue, and light blue and the carriers are half and half.
• Genes/Lines - In particular, the "Autorecessive tay sachs.gif" lines and genes are messy and its not clear how they are transferred from parents to children.
• Figures - all are good, except Autorecessive.png are kind of not.
• Notes - crosshatching in the first one, "Autorecessive-3.png", is unnecessary and distracting. In the second one, the children are of a particular sex and it gives the mistaken impression that, e.g. there are no normal sons. PAR 17:35, 10 February 2007 (UTC)

Image	Name	Color	Genes/ Lines	Figures	Note
	Autorecessive-3.png	good	good	good	crosshatching bad
	Autorecessive.jpg	good	good	good	children should definitely not be of a particular sex
	Autorecessive.png	good	good	bad
	Autorecessive tay sachs.gif	bad	bad	good

Sorry for the late answer. I must agree with you about the fourth one, but I have to think about the third one. NCurse _work 12:26, 11 February 2007 (UTC)

I think the first and second are almost identical, except for the figures. I mean, they seem very redundant, one should go, and I think the first is the best. I want to remove the crosshatch on the first to make it even better. PAR 15:31, 11 February 2007 (UTC)

[edit] Request for suggestions

Terrific work everybody! Can I ask for a bit of help with something? I've worked a lot on the page on Tay-Sachs Disease. I have tried to turn it into a good summary of peer reviewed research on Tay-Sachs.

Some person (with no log-in), who is probably well meaning, keeps adding a one sentence claim that Dr. Joanne Kurtzberg of Duke University has cured several cases of Tay-Sachs Disease. I looked into the matter, and Dr. Kurtzberg is clearly a leading medical researcher, however she and her colleagues have not reported any such results yet. Indeed, the success she has reported is with Krabbé disease, not Tay-Sachs.

What do we do when a person who is not qualified and does not understand what they are writing about keeps trying to modify a page? How do we maintain standards? Could somebody who is an editor change that page and make it require a log-in to make edits? --Metzenberg 06:10, 16 August 2006 (UTC) (not Aida ... her brother-in-law)

So, I had a look at the article's history. Regarding the rules, you can revert anon editor anytime you want. But if you find it boring (as I think so you find it), leave a message here and the admins will take care of him/her. We can't insert such a sentence without reference so don't wait to report this incidence, it would largely ease your work. I'm now on wikiwacation, but I'll have a deeper look at your article. Fine job! :) NCurse _work 07:42, 16 August 2006 (UTC)

I replied on the article's talk page about semi-protection. --apers0n 09:34, 16 August 2006 (UTC)

We should monitor this article closely and revert any changes of this kind. --apers0n 13:04, 16 August 2006 (UTC)

I'll! Let's join! :) NCurse _work 16:12, 16 August 2006 (UTC)

[edit] Looking for some good general references

Can somebody suggest a good general reference that is nontechnical and accessible, one that might be useful for all articles on the subject of autosomal recessive genetic disorders? In small and isolated populations, the incidence of homozygosity is often high for a few characteristic disorders, ones that may have been established in founder populations, yet the incidence of genetic disease overall is not higher. I think there is the incorrect perception, because of the media attention given to such research, that certain populations have a higher incidence of genetic disease.

Another broad issue is that the extent of screening and research in human populations is very uneven. Much more attention has been given to the diseases that are common in developed nations than in the Third World. Because many of the world's genetic disorders have yet to be identified, this might make it seem that genetic disease if more common in particular populations. Israel has had the most screening and has embraced this research, so many such diseases have been identified in both Jewish and Arab populations.

In theory, when a small population is isolated for a very long period of time, the incidence of genetic disease should actually be lower, because homozygosity reduces the incidence of carriership in the absense of reproductive compensation or heterozygote advantage. For example, the Samaritans of Israel are one of the most reproductively isolated human populations, yet they have very few genetic disorders. --Metzenberg 01:42, 17 August 2006 (UTC)

A nontechnical reference is Medline Plus. A slightly more technical reference is the Merk Manual. Both are searchable.

The issue of identification of genetic disorders by developed countries is an important one, and should be added to the genetic disorder article. Are there any published citations for lower incidence of genetic disease in isolated populations? If not, it would be considered original research. --apers0n 09:05, 17 August 2006 (UTC)

What I meant was, there is a higher incidence of genetic disease in isolated and inbred populations, but theoretically there is a lower level of harmful recessives in carriers. More harmful recessive homozygotes, but fewer heterozygotes. Genetic disease may be more common, but there are actually fewer carriers of genetic disease. Ironic? Evolution works. --Metzenberg 09:58, 24 August 2006 (UTC)

It would be a good idea to include a list of good sources for genetic diseases in the guidelines, GeneReviews at http://www.geneclinics.org/ is good. --[[User:|apers0n]] 19:10, 14 September 2006 (UTC)

I started a list here: Reliable sources, references, please improve. NCurse _work 09:00, 17 September 2006 (UTC)

Merck is a terrible source when one is concerned with any of the 7000 rare conditions. Medline plus is only a little better. The best source is genereviews (part of the family geneclinics is in), or the disease specific advocacy organizations.Sfterry 06:28, 18 February 2007 (UTC)

[edit] SVG

I have made an SVG:

SVG	PNG

Suggestions welcome. Cburnett 19:25, 25 March 2007 (UTC)

I like both. Thank you for the images! NCurse _work 04:55, 26 March 2007 (UTC)

Well, the PNG on the right isn't mine. It is, however, the one I based my SVG on. :) Cburnett 05:01, 26 March 2007 (UTC)

Anyway, it's good. Maybe the R and r letters could be bigger. NCurse _work 17:48, 26 March 2007 (UTC)

I thought about that after seeing it at 300px like above. I'm thinking to make the circles about the size of the heads if not a bit smaller. Cburnett 17:51, 26 March 2007 (UTC)

Just a bit smaller than the heads, and it's going to be perfect. :)

[edit] Request

I'm a non-member of the project, since I don't have the education to really contribute as yet, but I am studying genetics and disorders in the context of my medical laboratory science studies. Are there public-domain pictures available of some of the conditions which tend towards distinctive physical manifestations? I noticed some on the Down Syndrome page, and I think it would be useful for non-technical readers, since the descriptions of physical appearance tend towards the technical and are difficult to visualize. Thanks. SkepticalGal 21:26, 30 March 2007 (UTC)

Sorry, adding to incomplete statement above. My concern about images is specifically with those conditions characterized or initially diagnosed primarily by visible malformations (e.g. Muenke, Apert). SkepticalGal 22:31, 30 March 2007 (UTC)

It's really hard to find proper and freely usable images. We can't use images with copyright. So if you know any kind of resources, don't hesitate to tell us, and I'm going to upload all of them. :) NCurse _work 21:43, 31 March 2007 (UTC)