Talk:Tay–Sachs disease/Archive 1

Archive 1

Epidemiology

I feel like this is a really interesting topic, but that it really isn't lay (someone unfamiliar with the topic) friendly. Could someone perhaps make it more reader friendly? I'm not suggesting dumbing it down, but the ideas expressed are interesting to those who don't have as strong a biology background, too.--Chadamir 00:56, 17 Apr 2005 (UTC)

Here's an article that is possibly more reader-friendly: http://www.nytimes.com/2011/10/16/opinion/sunday/notes-from-a-dragon-mom.html?src=tp&smid=fb-share SeanAhern (talk) 00:25, 18 October 2011 (UTC)
I agree. Three apparently disparate groups all have a 1 in 27 chance of being a carrier? It would be great to add a treatment of: how did this eventuate? 24.127.110.118 05:40, 16 August 2005 (UTC)
  • Check this out, and then put the TB resistance thing back in:

http://www.pbs.org/wgbh/evolution/educators/course/session7/explain_b_pop1.html

The PBS (Public Broadcasting System) is not a refereed scientific journal or source. PBS is normally a good source of popular science information, but the lay science writers who work on their projects can occasionally be wanna-believers. Furthermore, the junior science writers who summarize PBS programs on the PBS.org website do not necessarily understand the gist of what the senior science writers who actually work on PBS programs are talking about. I bet the real PBS program was comprehensive and presented all sides, with the tuberculosis theory shown as what it is, only a theory. At this time, no carefully constructed empirical scientific studies have been published and reviewed for either the tuberculosis theory or the intelligence theory. Let's agree to wait for real scientific results before we publish it in this encyclopedia. --Metzenberg 02:30, 25 April 2006 (UTC)

To those who keep talking about old science programs on public television ... remember that a lot of money is invested in creating television programs. Even when the information they contain becomes obsolete, public television stations still show them. Indeed, they have an incentive to show them, because their rental fees are lower (since the programs are old). The old science wasn't bad. It just didn't have the same information as the new science. So, enough of PBS and enough of BBC. Support public television so that they'll have enough money to develop good new programming! --Metzenberg 08:33, 27 July 2006 (UTC)

24.127.110.118 writes ... "Three apparently disparate groups all have a 1 in 27 chance of being a carrier? It would be great to add a treatment of: how did this eventuate?"

All these populations (Ashkenazi Jews, French Canadians, Cajuns) originated with small founder populations of a few thousand individuals that remained genetically isolated for many generations thereafter. In a small founder population, genetic drift can easily amplify a mutation found in only a single individual in the founder population. Actually, 1 in 27 is not very common. Homozygotes would still be very rare. Try cystic fibrosis for one that really is common. --Metzenberg 02:37, 25 April 2006 (UTC)

NIH.GOV

http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

This symptons section of this wikipedia article is almost identical to the one above. Changes should be made as not to plagiarize.

While I belive this would still be plagarizm, this would not be a problem for WP because, as the source is the NIH, that web page is PD. xxpor ( Talk | Contribs ) 16:29, 20 June 2006 (UTC) See: {{PD-USGov-HHS-NIH}}{{commons ok}}
Good point about NIH being public domain. But one more thing. Disease descriptions from NIH are not original works of a single author. They are the result of evidence-based medicine, and are based on the work and observations of many people. It is in fact desirable that all stakeholders in the battle against disease use the same descriptions of disease. Don't invent your own language. Since this is an encyclopedia article to help non-techies understand a techie issue, it is okay to simplify language here, if you have the knowledge and skills to do so. --Metzenberg 08:39, 27 July 2006 (UTC)

Diamond theory

I removed the theory by Diamond that tay-sachs would cause resistance to tbc. The following reference was the only thing I could find on it and it explicitely says they are not related: Spyropoulos B, Moens PB, Davidson J, Lowden JA (1981). "Heterozygote advantage in Tay-Sachs carriers?". Am J Hum Genet. 33 (3): 375–80. PMID 7246543.{{cite journal}}: CS1 maint: multiple names: authors list (link) : It is unlikely that there is any advantage to being a Tay-Sachs carrier insofar as resistance to tuberculosis is concerned. --WS 17:47, 5 January 2006 (UTC)

You reverted my edit of 17:01 on 05 Jan (I wasn't logged on so my username isn't on it) -- fair enough, I was wrong. However to delete the Diamond TB theory w/o also deleting the following pgf ('Puzzlingly, it has been estimated...') is also wrong. The paragraph refers to the selection pressure in favour of the homozygous advantage and is meaningless w/o the Diamond reference.

There *is* evidence showing the grandparents of children who died of TSD were less likely to have died from TB (it was this evidence the authors of the paper you cite were responding to). It is also worth noting that four of the so-called 'jewish diseases' (Tay-Sachs, Gaucher's, Newmann-Pick etc.) are Lipid Storage Disorders, and all affect common metabolic pathways, facts that cannot reasonably be ascribed to chance. Whether this is due to Tuberculosis or not I can't say.

I've gathered a few refs.:

Myrianthopoulos NC, Melnick M (1977). "Tay-Sachs disease: a genetic-historical view of selective advantage". Prog Clin Biol Res. 18 (?): 95–106. PMID 341183.

Zlotogora, J and Bach, G (2003). "The Possibility of a Selection Process in the Ashkenazi Jewish Population". Am. J. Hum. Genet. 73 (?): 438–440. PMID 12868052.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Zlotogora J, Zeigler M, Bach G. (1988). "Selection in favor of lysosomal storage disorders?". Am J Hum Genet. 42 (2): 271–3. PMID 3124612.{{cite journal}}: CS1 maint: multiple names: authors list (link)

-- Dduff442 15:42, 8 January 2006 (UTC)

Yes, the other paragraph should also be removed, which I just did. Those theories are very interesting, however much of it is still speculation. Zlogotora et al conclude that the selection process is most likely nonrandom but also that that doesn't exclude the possibility of genetic drift. (Full text of that article) Even more interesting is a study from the same author on genetic diseases in palestinian arabs (PMID 11977175 Full text) --WS 20:03, 8 January 2006 (UTC)

I am also very interested in having a look at PMID 3344043 but I don't have access to that here... --WS 20:07, 8 January 2006 (UTC)

The investigations of Zlogotora et al are motivated, of course, rather than random. That four random mutations should each result in a lipid storage disorder is a fantastically unlikely possibility. I don't think a mention of heterozygote advantage and/or of the ongoing investigations would be out of place. However, you're the expert so I'll leave it at that - Dduff442 13:53, 9 January 2006 (UTC)

The Japanese genome database [1], which is in English, contains a summary of research in peer-reviewed bioscience journals, and a complete list of papers on Tay-Sachs. I agree with WS that no relationship has been proven at this time. Therefore, I have modified the article to present arguments for selective advantage as an unproven hypothesis. I am a critic bigtime of the Cochran theory, but until it is tested, it should be mentioned here also as a theory. --Metzenberg 03:14, 18 April 2006 (UTC)

restored add

"Resistance to tuberculosis" and moved reference.Mikereichold 13:34, 29 January 2006 (UTC)

vandalism

Though I agree that the vandalism need to be removed, I must admit with vandal 69.164.79.65: Tay-Sachs does, indeed, suck. Deborah-jl Talk 06:06, 18 March 2006 (UTC)

Tuberculosis

In fact, what was on the page before was misinformation, and is completely unfounded. The idea that carriers have greater resistance to TB has never been proven. This is only one of a number of theories that has been put forth. --Metzenberg 09:08, 17 April 2006 (UTC)

Pathogenisis Section

The material that I removed from this section appeared to have been copied verbatim from elsewhere, and it was not clear that the material was uncopyrighted. I have instead rewritten what was there in a simpler form, giving as an example the most common form of Tay-Sachs, caused by a 4bp insertion. (The Ashkenazi Jewish form). Note that over 90 Tay-Sachs mutations exist, that new ones are reported every year. Also note that limited genetic testing has been done on much of the world's population. --Metzenberg 09:25, 17 April 2006 (UTC)

Backup to a previous version

Neutrality:

I think some of your edits were well intentioned, but you haven't read the underlying literature, and in several cases I found that you had changed the entire meaning of what was said. For example, the disease is a genetic disorder, and changing "Ashkenazi Jews" to "Jews" is not a change to more neutral language. The disease simply does not occur among non-Ashkenazi Jews.

I don't happen to agree with Mr. Cochran's theories, but your deletion of several words from that paragraph made it meaningless and completely changed the meaning of what was said.

While the Chicago Manual, written for works in the humanities, recommends the spelling out numbers up to 100 in some cases, the style manuals of all technical publications recommend using figures, except in a few cases at the editor's discretion. Technical articles tend to contain a great many numbers, and the use of figures makes them more accurate and readable.

I see that you are a high school student. Editing requires a great deal of experience and a large base of knowledge. I suggest you stay away from editing the more technical articles on Wikipedia until you have more experience.

--Metzenberg 07:22, 24 May 2006 (UTC)

Style Notes

I have spent some time today cleaning up the references and notes. I have put them all into a single style and format. Please follow these guidelines as new sources of information become available.

  • This is a highly technical article, but it is meant to be written in a way that is accessible to all educated people who speak English, not just to specialists. Since it in a technical style, please use technical style for numbers, not Chicago Manual.
  • The Notes section is for original and primary source materials that provide the source for a specific section within the article. When possible these should be refereed journal articles, except perhaps where they are the source of an untested theory, like the TB or intelligence theories.
  • The reference section is for general collections of information. It is an especially good place to have links to those databases that are updated regularly with new information, like the Online Mendelian Inheritance database and the NCBI database.
  • External links is a good place to provide access to outside sources of information, especially those that are accessible. However, these are not primary sources of information and should not be added as notes for a particular section or paragraph. --Metzenberg 23:53, 26 July 2006 (UTC)

Dr. Joanne Kurtzberg and her research (Duke University)

Some person, who I am sure is well meaning, keeps adding a sentence that claims that Dr. Joanne Kurtzberg at Duke University has cured several cases of Tay-Sachs Disease. I am aware that this research is underway. What you report may even be true at this time, but it has not been reported yet in a medical or scientific journal.

I took the trouble to look into what her work is about. She has indeed had promising results with Krabbe disease, another liposomal storage disease that occurs on this metabolic pathway, but it is genetically unrelated. I believe that the personal who keeps adding the information to this page does not understand the Duke University research to date, and has misread the results. Research by Dr. Kurtzberg has been reported by Duke University in a press release.

I sincerely hope that Dr. Kurtzberg and her colleagues achieve success with their research. I hope you (the person who keeps adding this unwanted material to this page) understand that you may actually be doing a disservice to people by posting information you do not understand. At best, you may be creating false hopes for some families. And at worst you, you may be spreading false complacency and misinformation about disease.

Medical and scientific research depends on a system of peer review. Research is not considered valid until it has been reviewed and accepted by others in the field who are qualified to do so. I ask that you stand back and not keep adding possible misinformation to this page.

All of the studies cited by this article are peer-reviewed studies. I want this page to be a source that families concerned about disease, or couples concerned about conceiving a child, can read with confidence and understanding. I follow research on this disease very closely. When I hear that definitive results have been published, I will quickly read them and add to this article. --Metzenberg 05:57, 16 August 2006 (UTC)

If this unverified addition continues the article can be temporarily semi-protected (see WP:SPP) to prevent users who are not logged in from editing the page, although that should be used only if the frequence of additions are hard to keep up with - for now just keep reverting. --apers0n 09:33, 16 August 2006 (UTC)

Thank you. I am simply not able to monitor this article that frequently. I read your link about what semi-protection is. All that I ask is that only registered users modify it. Is there a lower level of semiprotection. The misinformation that this person placed on this page was here for several weeks while I was on vacation. Perhaps regular admins or editors who like to monitor such things could pay attention to this kind of problem (persistent misinformation) as well. --Metzenberg 11:49, 16 August 2006 (UTC)

Now that the issue has been raised with the Medical Genetics Wikiproject the article will be monitored regularly by members and any edits relating to this issue reverted immediately. If the problem persists then the article will be semiprotected. Thank you for your valuable contributions. --apers0n 13:00, 16 August 2006 (UTC)
If you're fed up with reverting or just they start to try it more, leave us a message on the project. But in the next few days, we will monitor it. :) NCurse   work 16:17, 16 August 2006 (UTC)

Dr. Kurtzberg

Dr. Kurtzberg has, in fact, saved the lives of babies with Tay Sachs. Duke will verify the transplants and the success. More immediately, see the NY Times article this past week: http://www.nytimes.com/2006/08/24/nyregion/24disease.html?ref=nyregion.

To be clear, this is not an area in which there need be extensive peer review - either the transplants are happening or they are not; either the babies live or they don't. And in this case, the transplants are happening and at least some babies are living. Families with dying children should know of this option.

There is a one sentence description of the research underway at Duke University in the section on gene therapy. When Dr. Kurtzberg and her colleagues report on their research, I will see to it that their work is summarized here immediately. In fact, the article in the New York Times did not report a cure. It reported that the child achieved neurological improvement. There are already some extremely good resources that a family or physician can use to find out about work in progress. Let's have Wikipedia be a source only for information that is qualified by peer review, so that we are not creating false hopes and spreading possibly inaccurate or incomplete information. --Metzenberg 06:22, 28 August 2006 (UTC)

Dr. Michael Kaback, first mass genetic testing

I removed this passage which was added to the article a few days ago. I think it could become an excellent addition to this page, but first we need for it to be sourced.

  • The world's first successful mass screening for Tay-Sachs Disease, indeed for any disease, was planned and executed by Dr. Michael Kaback, of Johns Hopkins University Hospital, in March of 1971 in the Wasington, D.C. suburb of Bethesda Maryland. Dr. Kaback's meticulous planning of every aspect of this land-mark genetic screening including community liaison, blood-draw procedure, laboratory set-up, and assay protocol and genetic counseling resulted in a flawless initial screening which demonstrated the efficacy and value of voluntary mass genetic screening of identifiable at-risk populations. Dr. Kaback's success was quickly emulated in cities throughout North America, Canada, Israel and Western Europe.

What is written here sounds like it was drawn from the Haverford College public relations "famous alumni" bulletin, or some such source. Would the author of this section please provide us with published sources such as article references in referred journals where Michael Kaback's work is described!

Kaback is one of the authors of a book about Tay-Sachs disease, published by Academic Press. Does Kaback describe this event in that book, or is that book purely a scientific description of the disease? The book sells for well over $100 and is not something you would find anywhere but in a very complete medical library. Please don't give that book as a reference unless you have access to it and have checked it. If so, you could use that book as a source. --Metzenberg 22:02, 5 March 2007 (UTC)

  • A handful of pages from the introduction to Kaback's book are available on Amazon. Kaback reports there on where to find a description of the initial screenings. I'll have to see if the complete title is in my local medical library. --Metzenberg 22:35, 5 March 2007 (UTC)

Re-assessing to B-class

I moved the assessment from A-class to B-class because large portions of the article are still uncited. A-class is an article which is almost ready for featured status, with only minor editing still needed. Articles that aren't fully cited won't pass WP:GAC and aren't almost ready for FAC. There's not much left to do here, though, other than finish citing the article, and make sure it conforms with WP:MEDMOS. I think once the article is fully cited, it certainly warrants A-class. Regards, SandyGeorgia (Talk) 23:38, 10 May 2007 (UTC)

Sandy. Since I have done most of the footnoting and organizing on this article, please help me out by adding a cite tag anyplace where you think one is needed, but where there isn't one now. I know the sources materials, and I can add the appropriate citation if one is needed. The general information in the article, that which simply isn't controversial and doesn't have to track back to a specific scientific paper, comes from the National Institute of Neurological Disorders and Stroke page, which is the first citation, as well as the main PMID page about the disease, which has the latest evidence medicine.
I think a better approach than footnoting every sentence is to list those two articles as the general external sources. They are already in the footnotes, of course. But one of the weaknesses of the "footnote every sentence in the article" approach is that the footnotes themselves are frequently no accurate, or they reference the wrong article, or the article they reference does not say what some editor thought they said.--Metzenberg 23:51, 10 May 2007 (UTC)
I'm not a fan of peppering a well-written article with fact tags; can you go through and add the most obvious first, and then I'll recheck? Most of it can probably be cited to NINDS — do you know how to use named refs? You can see from my examples; I'll name the NINDS ref, and then you can just add <ref name = "NINDS"/ > after anything that can be cited to them. SandyGeorgia (Talk) 00:24, 11 May 2007 (UTC)
OK, I added about a half dozen fact tags, and I also picked up a few missing wikilinks. An A-class article should be above what would pass WP:GAC and almost at featured quality; the article wouldn't pas GAC or FAC without thorough citation, and wouldn't likely pass WP:FAC without conformance to WP:MEDMOS, and a bit more attention to wikilinking, but it's a superb article and, IMO, with the remaining few citations added, it can be considered A-class. I also bumped the assessment to high per Metzenberg's post to my talk page about the research significance of the disease. (For examples of medical articles that have recently passed FAC/FAR, see Influenza, Tuberculosis, Coeliac disease, Immune system and Tourette syndrome). SandyGeorgia (Talk) 11:29, 11 May 2007 (UTC)
Also, this reference is missing a publisher, and it doesn't appear to be a peer-reviewed source (looks like a personal website):
  • Gregory Cochran, Jason Hardy, and Henry Harpending. Natural History of Ashkenazi Intelligence (PDF).
A better source for that — or at least the information of where it was originally published if it is a peer-reviewed source — would be good. SandyGeorgia (Talk) 11:47, 11 May 2007 (UTC)

Sandy, a citation about HEXA enzyme and blood-brain barrier isn't needed. That's general knowledge in this case. (All large molecules are unable to cross the blood-brain barrier.) Better that the reader clicks on the wikilink to read the wikipedia page on blood-brain barrier for general discussion of the concept.

The Cochran-Harpending article is published, but by having a link to it in PDF format, the reader is actually able to read the article itself. The journal in which it is published charges quite a high fee to read the article. IN my opinion, it's a terrible article and a lousy journal, but it has been in the news a great deal, including both the New York Times and the Economist. So, a lot of people may be coming to this page because of an interest in that article. It could have both sources. Note that there is a link to Gregory Cochran himself, and that full documentation is available on that page.--Metzenberg 10:14, 13 May 2007 (UTC)

Looking good! I'm going to post to both medical WikiProjects so others will look over the article for an A-class assessment. [2] SandyGeorgia (Talk) 12:15, 14 May 2007 (UTC)

Depromoted again. ~~Ebe123~~ → report on my contribs. 01:05, 30 December 2011 (UTC)

Expansion of Historical Significance Section ... from the 1880s to the 1960s

This is work in progress. Here is a preview. Comment please.

With the development and acceptance of the germ theory of disease in the 1860s and 1870s, the possibility that science could explain and even prevent or cure illness prompted medical doctors to undertake more precise description and diagnosis of disease. Warren Tay and Bernard Sachs, two physicians of the late 19th century, described the progression of the disease precisely and provided differential diagnostic criteria to distinguish it from other neurological disorders with similar symptoms.
Bernard Sachs, who recognized that the disease had a familial basis, proposed that the disease should be called amaurotic familial idiocy. However, its genetic basis was still poorly understood. Although Gregor Mendel had published his article on the genetics of peas in 1865, Mendel’s paper was largely forgotten for more than a generation, not rediscovered by other scientists until 1899. Thus, the Mendelian model for explaining Tay-Sachs was unavailable to scientists and medical practitioners of the time. The first edition of the Jewish Encyclopdia, published in 12 volumes between 1901 and 1906, described what was then known as amaurotic familial idiocy:

Source: cite web url=”http://www.jewishencyclopedia.com/view.jsp?artid=83&letter=I”

It is a curious fact that amaurotic family idiocy, a rare and fatal disease of children, occurs mostly among Jews. The largest number of cases have been observed in the United States—over thirty in number. It was at first thought that this was an exclusively Jewish disease, because most of the cases at first reported were among Russian and Polish Jews; but recently there have been reported a few cases occurring in non-Jewish children. The chief characteristics of the disease are progressive mental and physical enfeeblement; weakness and paralysis of all the extremities; and marasmus, associated with symmetrical changes in the macula lutea. On investigation of the reported cases it has been found that neither consanguinity nor syphilitic, alcoholic, or nervous antecedents in the family history are factors in the etiology of the disease. No preventive measures have as yet been discovered, and no treatment has been of any benefit, all the cases having terminated fatally.
According to sociologist Shelley Reuter, early medical writing about Tay-Sachs disease from the time it was first described scientifically until the end of the Second World War era, often treated it as a Jewish disease and in the process contributed to a characterization of Jews as a racial group. This treatment mirrored the view of genetic disease in society as a whole, in a time when the Eugenics movement was ascendant.

Source: cite journal The Canadian Journal of Sociology, Volume 31, Number 3, Summer 2006 author=Reuter, Shelley. title=The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease. pp. 291-323.

Even the Jewish Encyclopedia reflected such a racial characterization of Tay-Sachs disease and Jewry:
In the present state of knowledge of the etiology of idiocy and imbecility in general the only cause of their frequency among Jews that may be considered is the neurotic taint of the race. Children descending from a neurotic ancestry have nervous systems which are very unstable, and they are often incapable of tiding safely over the crises attending growth and development. They are often idiots or imbeciles.

Source: cite web url=”http://www.jewishencyclopedia.com/view.jsp?artid=83&letter=I”

With the rediscovery of Mendel’s work after 1900, scientists began to identify human genetic diseases that could be explained by Mendelian patterns. By the 1930s, several hundred cases of Tay-Sachs disease had been reported in medical literature. David Slome, a researcher in the Department of Social Biology at the University of London, summarizing the knowledge of time, concluded that Tay-Sachs disease was caused by a single genetic defect, and that it followed a autosomal recessive pattern of inheritance. Slome also presented evidence that Tay-Sachs was not exclusively a Jewish phenomenon.

Source: Slome D. 1933. The genetic basis of amaurotic family idiocy. Journal of Genetics 27:3 363-376. url=”http://www.ias.ac.in/jarch/jgenet/27/363.pdf”

Still to do on this section ... describe how the advances in genetics and biochemistry from the 1930s to the 1960s furthered understanding of Tay-Sachs disease. Metzenberg (talk) 07:06, 15 February 2009 (UTC)

Incorrect spelling in reference #4

This is a small nit to pick, but the first author of cited reference #4 should be O'Brien JS, not O'Brine JS. I knew Dr. O'Brien many years ago and noticed this misspelling of his name. I did not know how to edit a reference that is protected. Perhaps the original author would like to do this. Here is a reference:

http://health.ucsd.edu/news/2001/Obrien.html Dfuerpo (talk) 19:32, 19 March 2009 (UTC)

Fixed, thank you.-gadfium 20:38, 19 March 2009 (UTC)

Thanks for pointing this out, and a question I have is how to properly credit the work of Kaback (public health) and O'Brien (biochemistry). O'Brien created the enzyme assay test, while Kaback worked out the detabils of mass carrier screening. Both were at UCSD, and they are coauthors on some papers. O'Brien's UCSD obituary is inaccurate with respect to what he actually discovered. O'Brien discovered the basis for TSD at the protein (enzyme) level. Actual identification of the gene and of specific mutations was not possible in 1969. Metzenberg (talk) 09:02, 13 April 2009 (UTC)

Concept of Lysosomal Storage Diseases

Here is another important article that made it possible to understand TSD.

  • Hers, H.G. (1965) "Inborn lysosomal diseases" Gastroenterology 48 pp 625-633. Description of lysosomal storage diseases as a class of diseases.

Review article on history of understanding Lysosomal Storage Diseases

  • Watts, Richard W.E. (2003) "A historical perspective of the glycosphingolipids and sphingolipidoses" Philosophical Transactions of the Royal Society of London 358 pp 975-983. Metzenberg (talk) 08:59, 13 April 2009 (UTC)

Population genetics -- to be added in a few days

In the wider sphere of debates within population genetics, the neutral allele theory and its successors have gained widespread recognition and acceptance. Modern papers on autosomal recessive genetic disease seldom speculate about heterozygote advantage; founder effects are regarded as a robust theory for explaining the prevalence of most genetic diseases. Population genetic studies of particular diseases often seek to identify the coalescence date for a mutation, based on linkage disequilibrium and probability theory, supplemented by historic and pedigree studies. Where there is continued discussion of heterozygote advantage, it is for mutations with ancient coalescence and a long history in human populations, such as cystic fibrosis.

Sources:

  • James F. Crow's various retrospective articles on Motoo Kimura.
  • Coalescent Theory: An Introduction. by Julia Sigwart
  • Cystic fibrosis review article.
  • The genetic basis of common diseases. By Richard Allen King, Jerome I. Rotter, Arno G. Motulsky, "Bad for homozygotes, good for heterozygotes" pages 53-56. ISBN=0195125827 Metzenberg (talk) 11:20, 20 April 2009 (UTC)

Tay-Sachs biochemistry breakthrough article in 1969. [1]

Second biochemistry article in 1969.[2]


Comparative genetic screening programs

[3]


  1. ^ Okada S, O'Brien JS (1969). "Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165: 698–700.
  2. ^ Kolodny EH, Brady RO, Volk BW (1969-10-22). "Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease". Biochemical and Biophysical Research Communications. 37 (3): 526–531.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ Duster, Troy (2003). Backdoor to Eugenics. New York: Routledge.

Metzenberg (talk) 03:23, 22 April 2009 (UTC)

Troy Duster notes that while voluntary TSD screening achieved a high degree of success in Jewish communities, early screening programs for sickle-cell anemia met widespread resistance in African-American communities. Screening programs for sickle cell disease were often mandatory, and screening identified carriers as well as victims, yet no interventions or cures were available for patients. Screening was frequently regarded with suspicion, as a possible form of eugenic control. Some radical leaders even blamed white society for creating the disease, or ignoring its consequences.

By comparison, Jewish communities cooperated because the political controls were seen to be sufficiently in the hands of the Jewish community.

Organization

Began organizing per Wikipedia:Manual_of_Style_(medicine-related_articles)#Diseases.2Fdisorders.2Fsyndromes. Formatted images per Wiki policy.--Doc James (talk · contribs · email) 04:22, 16 June 2009 (UTC)

Images

Removed a number of images as they did not add to the article as did not pertain to tay-sachs disease. A blood draw, a embyro patho section, a generic protein diagram, two people talking.

How about an image of someone with this condition?--Doc James (talk · contribs · email) 04:32, 16 June 2009 (UTC)

Another question?

 
Jewish immigrant Irving Berlin performing the patriotic standard God Bless America, which he composed at the height of World War I, in 1918.

Did this person have Tay-Sachs? Did he do important work regarding the condition? There is nothing in the text of the article about him.--Doc James (talk · contribs · email) 05:00, 16 June 2009 (UTC)

Name of page

I'm new here, but shouldn't the whole page be under the "scientific" name of the disease, a.k.a "Hexosaminidase A Deficiency"? MERRF (talk) 15:37, 28 June 2009 (UTC)

Reassessment

Currently this article has a number of issues:

The page was organized per wikipedia medicine MOS. It however has been rearranged without discussion.

Many of the images add little to the page.

More concerns are found at the FA review.

Currently I do not think it fulfills A status.--Doc James (talk · contribs · email) 23:35, 5 July 2009 (UTC)

Prenatal Screening Under Wrong Title

The part of the artical about Prenatal Screenign for the desise is under the Prevention section. But isn't this a diognosis rarther that prevention? — Preceding unsigned comment added by 78.150.141.126 (talk) 16:59, 28 June 2011 (UTC)

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