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10 Tips: How To Search For Genetic Conditions

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Bertalan MeskóRSS Feed of this column.

I'm a Hungarian medical student with an English medical blog (Scienceroll ) on genetic testing, newborn screening, genetics and pop-medicine.... Read More »


For women older than 35, amniocentesis is usually recommended. But the Society of Obstetricians and Gynaecologists of Canada (SOGC) is now presenting a new guideline system:

All women should have access to blood tests and ultrasounds and that the results of such measures should guide the decision for more invasive screening, such as amniocentesis.


A public photo from Flickr

As I plan to become a clinical geneticist, I should write more often about genetic conditions. But I don't want to duplicate the articles of Wikipedia, my aim is to provide useful sources of information. Pompe disease is a rare disorder caused by the deficiency of the acid alpha-glucosidase enzyme. It's inherited in an autosomal recessive manner. The patients can't break down glycogen. According to the Wiki article:

Based on Timothy Erickson's thoughts, I decided to start a new blog carnival on genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks).

Please take a look at the "official" page of the carnival. (Suggestions are most welcome!)

The first issue will be hosted by Scienceroll on the 17th of February. The second will be hosted by Sciencesque two weeks later. Let me know if you would like to host one!

sonichedgehog.jpgI planned to make a good start for Gene Genie but my first gene related post is about a farewell. Sonic Hedgehog, one of the most famous genes, will lose his name. According to the Discover article:

From tomorrow until the end of the week, I'm going to post just strictly about science, I mean at least once per day on science and only science. No popular medicine, no medical imaging, no fun. I'm really curious about the number of readers of the next few days. :)

Bloggers who self-identify as scientists and science writers should post on:

I think, after 2 and a half months of blogging, it's time to tell you my dream. I'm nearly sure about that this dream wouldn't come true in my lifetime. I dream about a total screening for genetic conditions and diseases. When you are born, your DNA is screened for well-known variations and gene abnormalities. These variations lead to increased risk for some kind of diseases.