Sarcosinemia, rare genetic disease(cant find a history of it for my bio ISP)

  • Thread starter Thread starter Green Zach
  • Start date Start date
  • Tags Tags
    History Isp
Click For Summary

Discussion Overview

The discussion revolves around the rare genetic disease sarcosinemia, focusing on the historical context, diagnosis, and general understanding of the disease. Participants are seeking information for a biology independent study project, particularly regarding the history and discovery of sarcosinemia.

Discussion Character

  • Homework-related
  • Exploratory
  • Technical explanation

Main Points Raised

  • One participant expresses difficulty in finding historical information about sarcosinemia, including its discovery and diagnostic methods.
  • Another participant suggests a specific journal article from 1967 that may contain relevant information about hypersarcosinemia.
  • A different participant mentions the Online Mendelian Inheritance in Man (OMIM) as a potential resource for information on genetic diseases.
  • There is a discussion about the challenges of accessing the suggested journal article, with one participant indicating that they have not been able to find the content of the article despite having the citation.
  • One participant humorously suggests making up information due to the difficulty in obtaining resources, while another advises returning to the library with the proper reference for assistance.
  • Interlibrary loan is mentioned as a possible solution for accessing the needed materials.

Areas of Agreement / Disagreement

Participants do not reach a consensus on the availability of historical information about sarcosinemia. There are multiple suggestions for resources, but no agreement on the sufficiency or accessibility of the information needed for the project.

Contextual Notes

Participants express uncertainty regarding the availability of specific historical data and the challenges of accessing academic resources. There are indications of missing assumptions about the accessibility of libraries and journal articles.

Green Zach
Messages
85
Reaction score
0

Homework Statement


Ok, so i have a bio ISP based on a genetic disease. The disease i am researching is called sarcosinemia also known as hypersarcosinemia, SARDH deficiency, SARD deficiency, and SAR (as far as i know but the list may go on). I basically need to give a 10 page report on how the disease works, history of the disease, how to diagnose the disease etc... but i simply can't find any information on who discovered it, when it was discovered, and other history related topics associated with it. The project is due in about 10 days and i sincerely need this forums help finding any information even remotely connected to the history of sarcosinemia.


Homework Equations





The Attempt at a Solution


I have gone to two libraries (both told me to try google lol), called my local hospital's genetic research department (they were surprisingly helpful but unfortunately didnt have anything on the history of the disease), and have spent about 20hrs reading through articles on the disease + searching through and reading what i could find over the internet.
 
Physics news on Phys.org
Try this:

American Journal of Diseases of Children, 1967 Jan; 113(1): 134-7.
"Hypersarcosinemia. A newly described inborn error of metabolism."

Two minutes on Google...
 
You have a what? An internet service provider based on genetic disease?:confused:

Anyway OMIM (Online Mendelian Inheritance in Man) is a big source for that (despite the name I think it is only about disease inheritance) and I immediately found rundowns and biblio on your question.

http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
 
chemisttree said:
Try this:

American Journal of Diseases of Children, 1967 Jan; 113(1): 134-7.
"Hypersarcosinemia. A newly described inborn error of metabolism."

Two minutes on Google...

well i got that far... but the project needs info on what's in the book not just the title and i can't find any info on what is actualy in the book
 
Are you saying that you can't find a journal given the title, date, volume and number and pages? You're going to have to go back to the library... armed with the reference of course. They should be able to help you with it.
 
chemisttree said:
Are you saying that you can't find a journal given the title, date, volume and number and pages? You're going to have to go back to the library... armed with the reference of course. They should be able to help you with it.

hey man sorry if i seemed like a bit of a jerk earlyer, i had just finished searching for like 4hrs for documents related to the book you recomended to me... and you i went to the library and apparently the closest copy of the book is in some library in Ottawa ontario which is about 7hrs away from me :( oh well i guess that just means that i can make things up as i go along :P not like my teacher is going to drive out to ottawa to confirm my research lol
 
Interlibrary loan...
 

Similar threads

Current disease events in wildlife and domestic animals
  • · Replies 7 ·
Replies
7
Views
2K
History Science and Public Policy: an Interesting History
  • · Replies 2 ·
Replies
2
Views
2K
Viral (RNA and DNA) polymerases, inhibitors and antiviral drugs
  • · Replies 1 ·
Replies
1
Views
2K
COVID COVID researchers discover why some people are asymptomatic
  • · Replies 8 ·
Replies
8
Views
2K
New CRISPR-based tool for find-and-replace editing of DNA
  • · Replies 2 ·
Replies
2
Views
5K
Bioinformatics project to help find cure for ALS
  • · Replies 2 ·
Replies
2
Views
2K
History of Emerging Infectious Diseases
  • · Replies 6 ·
Replies
6
Views
4K
Cancer drugs and Alzheimer's, Oh my
  • · Replies 3 ·
Replies
3
Views
6K
Plausibility issues for a near-future thriller
  • · Replies 4 ·
Replies
4
Views
2K
Who was Sponsian? Roman Emperor?
  • · Replies 5 ·
Replies
5
Views
2K