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Posts Tagged ‘Huntington’s disease’

Why and Why Not You May Need A Genetic Councilor

You sometimes add a new dimension to blog-ramblings Andrew :-)

Here’s why you need a genetic counselor: http://tinyurl.com/4ccbo6
- and here’s why you might not need one: http://tinyurl.com/4a9ytg

Originally posted as a comment by Sciphu on Think Gene using Disqus.

Story: genetic councilors are people you pay to console you about the results of a genetic test report to make you feel better and help you make rational decisions about your health when your reasoning may be distorted by emotional distress. If that’s a service you want, buy a couple hours from a genetic councilor.

Computers can never provide human consolation, no matter how excellent and rational their reports. Doctors and scientists feel that councilor work is beneath them, nor are they typically any good at it, nor do they realistically have the capacity to do it. However, scientists tend to be much better at analyzing complex information, and medical doctors can use reports to better synthesize a general understanding of your health to recommend medical action not already prescribed by obvious standard practice.

For example, I would probably make an excellent systems biologist, but the world’s worst genetic councilor. “Beep-bop-boop, you have Huntington’s. Don’t have children.” See? A that’s perfectly rational statement, but it’s illustrative why genetic councilors are important.

But how many people in health care today can read the following expression? Or write it? Or tell me what it means not just clinically, but biologically?

re.search('(CAG){36,}',genome[4][3046205:3215485])

Promising new drug targets identified for Huntington’s disease

Research funded by the Wellcome Trust has provided a number of promising new drug targets for Huntington’s disease, a neurodegenerative disease. Scientists at the University of Cambridge have identified a number of candidate drugs to investigate further which encourage cells to “eat” the malformed proteins that lead to the disease.

Huntington’s disease is one of a number of degenerative diseases marked by build up of a malformed proteins in brain cells, mainly in the basal ganglia and the cerebral cortex. Normally, cells dispose of or recycle their waste material, including unwanted or misfolded proteins, through a process known as autophagy, or ’self-eating’.
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