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News of genetics: let’s beat genetic diseases!

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.


Hepatitis Virus C gene

9 Comments Post a comment
  1. So who won the poker tourney?

    April 25, 2007
  2. After 11 (yes, 11!) all-ins, I had to quit. :)

    April 25, 2007
  3. 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!

    May 1, 2007
  4. Thank you, Blaine! I just have to say the same because I’ve recently found your blog and added it to my feedreader immediately. :)

    May 1, 2007
  5. Shawna Murray MD #

    Don’t popularize or otherwise promote this highly malignant person, Beverly St. Clair. She is an incompetent and psychopathic psychiatrist who caused severe harm and then failed to rescue the patient. She is not scientifically minded. She was unable to assess clinical situations, using the standard assessment techniques that are required in assessing patients. She wrote incomplete, and even occasionally, ridiculous notes. She interfered with whistleblowing against extremely abusive and even criminally, sexually assaultive doctors at UMass Medical Center. At one point she practiced while mentally ill without competent backup. This is not a person with any interest in science or scientific thinking. She a poorly-trained, Harvard educated, fiber artist fluff head who never should have been allowed into medicine.

    She should have lost her medical license a long time ago and been put in jail for engaging in behavior that can only be called criminal. Selling “celebration quilts” after causing such severe suffering to a patient for so many years only confirms the severe level of her psychopathy.

    June 18, 2010

Trackbacks & Pingbacks

  1. PTC124, a Drug Against Genetic Diseases: Overview « ScienceRoll
  2. PTC124, a Drug Against Genetic Diseases: Overview | We Need Health
  3. Genetics has a new profession « ScienceRoll
  4. genetics » Blog Archive » [Genome and systems biology] A Soybean Transcript Map: Gene …

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