DNA sequencing and using the information to treat a very rare IBD caused by immune deficiency

[Malgrave]

Doctors and scientists in Wisconsin have published the first detailed account of a groundbreaking medical case in which they sequenced all the genes of a very sick young boy from Monona and used the information to treat the child.

Genetic experts said the Wisconsin case signals a new era in medicine in which doctors will be able to read our genetic script to diagnose and sometimes treat maladies, especially cancers and rare hereditary diseases.

The boy, whose story is the subject of a Journal Sentinel series starting Sunday, suffered from a disease and mutation never before seen in medicine. When he ate, painful holes called fistulas would open, leading from his intestine to his skin. The child, now 6, became so sick that doctors had to remove his colon in the spring of 2009.

In a paper and commentary published online Friday in the journal Genetics in Medicine, doctors and scientists at Children's Hospital of Wisconsin and the Medical College of Wisconsin described how they were able to read the boy's genetic script in the summer of 2009 and pinpoint the mutation responsible for his disease.

...

See the whole story:
http://www.jsonline.com/features/health/112114619.html

http://www.jsonline.com/features/health/111224104.html

 

[Tenacity]

That is such exciting news Malgrave! I wish everyone could have this testing done! Why do you think in coming years that it will be much less expensive than it is now?

I think all refractory patients should discuss this option with their medical team.

I live very close to the Human Genome Sequencing Centre at Baylor School of Medicine. It is in our medical center.

 

[Igor_Passau]

old information

 

[Tenacity]

Igor - do you know about anyone who has had this extensive gene testing done, and gone on to treat the defect, and what the result is?

 

[Malgrave]

Thanks Tenacity!
Maybe this is old information, but my 5 years old son is going through all this at this very moment. He has very severe Crohn's like disease, but the broad immunological tests have shown that he most likely has some sort of immune deficiency and the decision to start the DNA sequencing process was done 2 weeks ago...

I will share my son's full story later in this forum.

 

[Tenacity]

Malgrave,

That is very kind of you to share your son's journey with everyone, so we can all learn from you. I know how busy and time consuming it is to care for a chronically ill child, and I appreciate the time it takes you to do this.

Stem cell transplants are also "old" news - they have been doing them for decades, but are on the cutting edge of curing IBD, and the research is very much ongoing, and exciting to follow.

Likewise, your information about gene mapping is one of the most exciting breakthroughs in medicine, and is also in its infancy, even though it might have been discussed before in a newspaper article.

The actual application of these breakthroughs takes a long time to develop, and to be tested, and for experience to teach the doctors how best to use it. Not to mention for them to develop economical ways to apply these and make them available to a broader spectrum of patients.

Many of today's most promising treatments build on the concepts developed before them, and I personally see great promise in the future of DNA mapping and stem cell research.

 

[Bond007]

Very interesting. I am surprised there are not more posts on this thread. My opinion gene mapping and stem cells have more probability of curing crohn's than any other avenue! Thanks for posting, and please keep us posted - some of us may not understand the potential gene mapping may have. Certainly not old news, maybe just some of the most interesting around. Thanks again.

 

[Malgrave]

It seems that gene mapping, although still in its infancy, is a fast growing research area, see e.g. the article below. The fast development in data processing and computer programs should also make this kind of research less and less expensive in the future. Maybe some day there will be a large scale project like this for gene mapping in the area of IBD as well... Or is something like this already going on somewhere?

http://sfari.org/news-and-opinion/c...s-u.k.-project-set-to-sequence-10-000-genomes

 

[Malgrave]

To answer my own question, I found this old thread:

http://www.crohnsforum.com/showthread.php?t=29662&highlight=genome

So it seems that there have been already broad IBD related studies based on the same data sets mentioned in my previous reply (i.e. Wellcome Trust related data, which in this case seemed to include genetic information of 1698 CD patients).

And here is a press release of Wellcome Trust Sanger Institute which also tells us that the large scale mapping of genetic regions associated with IBD is strongly going on:

http://www.sanger.ac.uk/about/press/2012/121031.html

This is so interesting and promising!

 

[Tenacity]

Thank you Malgrave - I just spent a lot of time reading everything you posted. Yes, it is exremely interesting, and I will be doing more research about this. They will be able to make great progress now that the researchers are sharing their databases with each other.

 

[Malgrave]

This page includes an interesting chart on IBD genetics historical timeline + more information about the worldwide cooperation in this research domain:

http://www.ibdgenetics.org/