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Genetic conditions: Update

After a successful gynecology exam, I’m back again. Now I’m going to be able to post until the 7th of January (pharmacology exam). So, let’s take a short journey in the most recent discoveries, developments of genetic conditions and their therapies.

Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme – acid alpha-glucosidase (GAA) – which is needed to break down glycogen. Without treatment it is lethal in infants and young children. But here is a new treatment called enzyme replacement.

The study found all 18 children who started to receive the enzyme replacement, recombinant human GAA (rhGAA), before they were six months old survived to at least 18 months of age. Fifteen of the 18 children also did not need a ventilator. The study showed that starting rhGAA before the age of six months reduced the risk of death in children by 99 percent, reduced the risk of death or invasive breathing assistance by 92 percent, and reduced the risk of death or any type of ventilation by 88 percent, compared to past patients without this treatment.

The other recent finding is a gene-chip technique.

Researchers at Cincinnati Children’s Hospital Medical Center have developed the first gene chip to use in the early diagnosis of at least five hereditary liver diseases, to detect genetic causes of jaundice in children and adults, and potentially to lead to personalized treatment options. The chip, termed the “jaundice chip,” is nearly 100 percent effective in the detection of the most common mutations in children with inherited causes of jaundice, according to a new Cincinnati Children’s study in the January issue of the journal Gastroenterology.

Cincinnati Children’s Hospital Medical Center

I’m dreaming of (not a white Christmas) a world with a perfect screening method of the newborns. In Hungary, there are just four genetic conditions that are screened in a new-born baby. As far as I know, in Texas, there are nearly 31. I’ve recently asked a clinical geneticist of the UK to tell us about the English screening system. I hope the answers are coming soon… (By the way, I’m searching for an expert of the U.S. Don’t you know any?)


13 Comments Post a comment
  1. Did you see this New Scientist article earlier this year?

    December 31, 2006
  2. Wow! Thanks for the link!

    December 31, 2006
  3. Yeah, I happened to come across it earlier in the day while reading New Scientist’s summary of developments in health and medicine over the past year, and figured you’d be interested. Happy New Year!

    December 31, 2006
  4. The same for you!

    I hope we’re going to be able to improve our blogs a lot in the next year. I wish you hundreds of contacts via Technorati. :)

    December 31, 2006
  5. And I wish the same to you! Though I’m not sure what kind of improvement I can hope for—it’s so tough for me to find time to write decent posts.

    January 1, 2007
  6. Scott #

    Have you ever seen some of the recent information on

    January 4, 2007
  7. Scott #

    No problem! Anything to help build awareness on the disease. I read the article in the Wall Street Journal and was moved by it. I actually have some images and diagnostic information on Pompe I’d be happy to send you if you want to take a look at them.

    January 4, 2007
  8. Scott, don’t hesitate to send me those. I could even write a longer post on Pompe. As a clinical geneticist to be, I’m interested in every kind of genetic conditions. I would insert a link to the Pompe site too. Thanks in advance.

    January 4, 2007
  9. I was able to read your other post on Pompe disease where you featured a conversation with a Pompe patient by the name of Juan. I submitted some questions there addressed to you and to Juan hoping that people especially from the third world countries may become more aware of it.

    November 8, 2007

Trackbacks & Pingbacks

  1. Newborn Screening in the US: a mother's story about how to improve a whole system « ScienceRoll
  2. Gynecology Exam
  3. Grand Rounds: Volume 3, Issue 26 | Blog, MD

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