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News of genetics: let’s beat genetic diseases! April 25, 2007

Posted by Bertalan Meskó in About me, Genetic condition, Genetic screening, Genetic testing, Health, Invention, Medicine, Prevention, Video, genetics.
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I’m just back from a poker tournament, and I can’t stop posting the most interesting and promising genetic news and announcements from the recent days:

A pill that can correct a wide range of faulty genes which cause crippling illnesses should be available within three years, promising a revolution in the treatment of thousands of conditions. The drug, known as PTC124, has already had encouraging results in patients with Duchenne muscular dystrophy and cystic fibrosis. The final phase of clinical trials is to begin this year, and it could be licensed as early as 2009.

I must write more about PTC124 and the possible therapeutic possibilities. A great topic.

A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome (FXS), the most common inherited form of mental retardation.

Currently, there is no cure for Fragile X syndrome, so this population screening would be helpful mainly for genetic counseling.

If you’re a regular reader of this blog, then you know that I am a strong proponent of genetic testing for genealogical purposes. I believe that when used correctly genetic testing can serve as a valuable tool in the genealogist’s toolbox… the skepticism and wariness about genetic genealogy comes from the interpretation of the results.

It seems that I finally found my man… If you’d like to read great comments on the news of genetic testing, don’t miss that blog! He also made a collection of 10 genetic videos. Here is one about Mitochondrial Eve:

And at last, genetic humor… My Biotech Life presents quilts made up of nucleotides. You just have your genome sequenced and Beverly St. Clair makes your own genomic quilt. Here is an example of the patterns and a real quilt of nucleotides.

quilt1.jpg

hcv-front.jpg
Hepatitis Virus C gene

Comments»

1. Steve Murphy MD - April 25, 2007

So who won the poker tourney?
-Steve
http://www.thegenesherpa.blogspot.com

2. ncurse - April 25, 2007

After 11 (yes, 11!) all-ins, I had to quit. :)

3. Blaine - May 1, 2007

I just wanted to thank you for reading, and for sending a link my way. I’ve been reading your blog for a while, and I find it both enjoyable and educating!

4. ncurse - May 1, 2007

Thank you, Blaine! I just have to say the same because I’ve recently found your blog and added it to my feedreader immediately. :)

5. PTC124, a Drug Against Genetic Diseases: Overview « ScienceRoll - May 4, 2007

[...] Genetic condition, Invention, genetics, Health, Medicine, Gene, science. trackback I’ve already written about the Times Online article (Daily pill to beat genetic diseases), but I would like to give a clear [...]

6. PTC124, a Drug Against Genetic Diseases: Overview | We Need Health - May 4, 2007

[...] already written about the Times Online article (Daily pill to beat genetic diseases), but I would like to give a clear [...]

7. Genetics has a new profession « ScienceRoll - May 27, 2007

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