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Karen%27s%20headshot.JPG Hi there. I am a science/ medical writer based in Atlanta GA with a Ph.D. in cancer biochemistry from Emory University. The purpose of this blog is to write about current and interesting science news that may affect people's lives. I hope you enjoy my posts.

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Autism susceptibility gene identified

Category: The Human Body
Posted on: March 14, 2007 11:44 AM, by Karen Ventii

Autism is a complex and mysterious condition. It is a brain disorder that can affect a person's communication or social development skills but can also be related to extraordinary mental abilities such as those found in autistic savants.

With the creation of the Autism Genome Project in 2002, researchers around the world set out to collaborate and identify autism susceptibility genes.

In preliminary findings published in Nature Genetics Yale School of Medicine researchers Fred Volkmar, M.D. and Ami Klin have identified a gene called neurexin 1.

Neurexin 1 is part of a family of genes coding for proteins involved in communication between neurons. It is associated with glutamate, the neurotransmitter known to elevate neuronal activity and play a role in wiring the brain during early development.

They also found a region on chromosome 11 that may be linked to autism susceptibility but have yet to identify a specific gene.

This is a good start but researchers still have a long way to go. There are estimated to be 5 or 6 major genes and as many as 30 other genes involved in autism susceptibility.

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Comments

If you plan a career in journalism too, have you considered blogging about the ethical considerations involved in determining which genes 'may' trigger or make individuals more susceptible to autism? Just a thought.
Best wishes

Posted by: mcewen | March 14, 2007 5:31 PM

Before your comment I hadn't fully pondered the ethical issues surrounding genetic research on autism.

The Center for Integration of Research on Genetics and Ethics at Stanford University addresses some of these issues like:


-What ethical, legal and social issues are raised by genetic research on autism as perceived by genetic researchers, ELSI researchers, policy makers, the media, the autism community and the general public?


-How has genetic research on autism affected the perception of autism (including autism as an identity) in the autism research community, the general research community, among people diagnosed with autism and patient advocacy groups?


-What are the scientific and other reasons for seeking a genetic component to autism? What are the scientific, cultural and value assumptions contributing to the definitions of autism phenotypes and autism as a genetic condition?


-How do findings of genetic contributions to autism change perceptions of the treatments of the condition?

These points would all be very interesting to write about. I'll keep it in mind.

Posted by: Karen Ventii | March 15, 2007 1:04 PM

Hi Karen, Here is a
dubious award. Ignore it, I know you don't have this kind of blog but it is a mark of my esteem.
Regards
jmb

Posted by: jmb | March 16, 2007 4:26 AM

Dear, jmb,
Thank you so much for acknowledging my blog with a 'Thinking Blogger Award'. It's the first blog award I've ever received! :) Thanks again.


Posted by: Karen Ventii | March 16, 2007 3:18 PM

Isn't autism though a catch all diagnosis?
Autism

That is a wide range of phenotypes and somewhat vague.

Posted by: ponderingfool | March 19, 2007 5:36 PM

Karen,
Wishing you all the best in your studies and in your intended career. I look forward to reading your work when you are done. The world needs some motivated thinkers like yourself to report the good, bad, ugly, and hazy - all of which exists in abundance. Take care and once again good luck. (Nice post on autism, btw. Feel free to post anything new you've found.)

Posted by: sovie | August 28, 2007 12:53 PM

Dear Sovie,
Thank you so much for your encouraging words. It'll definitely be interesting to do an update on what's new in autism research. I'll keep it in mind. Take care.

Posted by: Karen Ventii | August 29, 2007 12:28 PM

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