Looking at Genetic Abnormalities

A flexible ladder coiled
A two strand twist
Knotted in ropes
Packed into bundles
Compacted chromosomes
Determining DNA
A single kink
Results in a shattering
Misplaced protein
Mangled process
A mind in slivers
Psyche out of phase
An all too short life

I still think about some of the projects I’ve worked on. I have a great deal of optimism that some of the research happening today will result in effective prevention or interventions for many disease conditions that plague the human population. There is progress being made in the area of genetic diseases that are inherited. Some of these are very rare and are referred to as “orphan diseases”. That’s because there are so few people affected that the big pharmaceutical companies don’t feel there is enough profit to be made so they don’t do the research. Luckily for the world, there are researchers that are looking specifically at those conditions. At my former employer there is a whole group dedicated to these orphan diseases. One of the conditions they are looking at is Neimann-Pick Type C. There has been progress made and I’ve got my fingers crossed that there may be a method to rescue children who manifest this horrible disease!

17 thoughts on “Looking at Genetic Abnormalities

    1. Amen. Some of the research is very exciting! It is one aspect of retirement that I didn’t expect, to lose touch with the cutting edge research going on in some of the labs… Now I have to look at the news articles (which are several years removed from the initial breakthrough).

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  1. My great-niece has a rare genetic mutation called Verheij Syndrome. There’s very little information out there about it and no treatments that I could find. I hope there are more groups like the one at your former workplace, looking into non-profitable diseases.

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    1. Yes there are. They have a regular network of labs all looking at orphan diseases. Unlike many labs, collaboration is key. Seems that many of the younger researchers are much more altruistic than previous generations. They are not in it for the money but are focused on saving humanity – one person at a time! It gives me hope!

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  2. I think that the moment a breakthrough happens, some government will step in, cover the cure and start producing expensive medication that could halt the diseases’s progress, but never cure it. Have you ever read about B17?

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    1. I suppose I have more faith in the goodness of people. Yes I’m aware of laetril. I’m also aware of the people who tout its benefits. Sadly the ones that were not helped are silent as the grave… There is much to be said for alternative treatments and I believe that prayer can work miracles. I also believe that desperate people are easy prey for scam artists and snake oil salesmen.

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