Skip to content

10 Tips: how to search for genetic conditions

Some months ago, I wrote about Juan Magdaraog who is blogging about his struggle with Pompe disease, a rare, but important genetic condition. He let me know about an essential problem: the diagnostic delay.

The diagnosis often poses a dilemma due to the rarity of the disease, the variable rates of progression and the unspecific phenotypic features… Just take a look at the diagnostic delay diagram, there are from 2 to 4 years between the first symptoms and the diagnosis!

Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions.

I know that there are hundreds of great resources on the net, but here are my 10 tips, my 10 favourite sites:

1. Online Mendelian Inheritance in Man (17 706 entries)

This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.

omim.jpg

2. Single Gene Disorders and Disability at Centers for Disease Control and Prevention

Single gene disorders (SGDs) are a group of conditions caused by a change (mutation) in one particular gene. There are over 6,000 SGDs and although these disorders are rare individually, when grouped together they account for about 1 in 300 births.

singlegenedisorder.jpg

3. Specific Genetic disorders at National Human Genome Research Institute

Sometimes, physicians are unable to put a name to a genetic condition. When this happens, physicians will say that a child or an adult has an undiagnosed rare or genetic condition. To learn more about how to deal with genetic or rare conditions that have no diagnosis, see this list.

nhgri.jpg

4. List of genetic disorders at Wikipedia

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of fertilization and the chromosome involved.

wikipedia.jpg

5. GeneReviews (392 entries)

GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

genereviews.jpg

6. Ask the Geneticist

Selected questions and answers are posted within 3 weeks. The confidentiality of all visitors to this site is respected according to the HIPAA Privacy Rule and Georgia and Alabama State law.

askthegeneticist.jpg

7. National Organization for Rare Disorders

Many libraries, schools, universities, and hospitals subscribe to NORD’s Rare Disease Database for unlimited access to reports on more than 1,150 diseases.

nord.jpg

8. Center for Inherited Disease Research

A centralized facility that provides genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease. CIDR concentrates primarily on multifactorial hereditary disease although analysis of single gene disorders can also be accommodated.

cidr.jpg

9. Open Directory Project: Genetic Disorders

dmoz.jpg

10. The best: OrphaNet

ORPHANET aims to improve management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases.

The database contains 2000 diseases in 6 languages written by experts. More than 800 daily updates, 25 collaborate databases, 20,000 connections a day with a total budget of 1.3 million Euros. 20,000 daily users from 150 countries.

Alexa statistics of OrphaNet and Rarediseases.org:

oprhanetstat.jpg

For many more lists of resources, please see the Disorder Guide or the rarediseases.info page.

Regarding my list, I hope you find at least some of the links useful. And I also hope that physicians could use these resources to know more about rare, genetic conditions and we can forget about the evil diagnostic delay in the near future.

About these ads
16 Comments Post a comment
  1. This is a fabulous resource, Bertalan! Thanks for putting it together…jc

    May 29, 2007
  2. I have collected papers on single gene disorders that occur sporadically with increasing paternal age as.

    http://fathersageandsinglegenedisorders.blogspot.com/

    June 8, 2007
  3. Wow, an other great work of you, Leslie! :)

    I found it especially interesting: A DIRECT CAMPAIGN FOR FATHERS TO COMPLETE THEIR FAMILIES BEFORE THE AGE OF 35 MAY HAVE A MEASUREABLE EFFECT IN THE PREVENTION OF DOMINANT MUTATIONS

    June 8, 2007
  4. thanks for the great info

    July 4, 2008
  5. I was just seeking this information for quite some times. Nearly 2 hours of online browsing, finally I saw it in your post. I wonder why Bing do not rank this kind of good web sites in the top SERP. Usually the top web sites are full of junks. Perhaps it’s time to use other search engine.

    May 16, 2011

Trackbacks & Pingbacks

  1. bioephemera.com » Eschewing flying cats and cactus girls
  2. Grand rounds is up at Medskool « ScienceRoll
  3. Bio::blogs: Tricks and Tips « ScienceRoll
  4. Gene Genie in Mendel's Garden — Eye on DNA
  5. Genes, Activism, and Why We Still Have the Push Mower
  6. DNA Direct Talk » Blog Archive » Scienceroll's 10 Tips on Searching for Genetic Conditions
  7. Web 2.0 and clinical genetics: in practice « ScienceRoll
  8. New Tips: How to search for genetic conditions « ScienceRoll
  9. Youtube: Top 10 Videos About Genetic Conditions « ScienceRoll
  10. Handbook of Genetic Counseling « ScienceRoll
  11. Turulcsirip - Bertalan Meskó

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

Follow

Get every new post delivered to your Inbox.

Join 40,917 other followers

%d bloggers like this: