Gene Therapy

Genetics for Dummies

Some time ago, my daughters suggested I write a "dummies" book about Genetics. I really don't like the series, but decided to think about it.

A few days ago, I did just that--think about it, that is--by checking out a link from some page that referred to genetics education sites. I found that there is already a Genetics for Dummies book, published in 2005, and written by a geneticist from the Northwest. 

Scooped again. But that leave more time for other things. 

If you're interested in reading this book, and other books on many, many topics, you can download free online versions. The site's bookmarked on my other machine, so I'll have to add it to this post in an edit. I had to register for and download an access program first, but could then download and read the book I wanted.

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Welcome to the geneforum blog!

Wow, have I been out of touch lately! A few weeks ago, when I returned to Oregon after selling my home in Utah, I logged in and promised to start posting blogs again.

Didn't make it. So, let's try again.

My personal news is that the Godfrey genetic pool has been increased by one beautiful baby boy, born to first-time parents. He doesn't look like any family member in particular, but does have a couple of features we suspect are genetically determined.

Now that I have access more often to a computer, I will be trying to post more regularly.

Here are some subjects I'm finding of personal interest at the moment. Let me know how these fit with your interests.

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ELSI: Ethical, legal, and social issues of genomics

Just returned from a conference in Cleveland, Ohio, dealing with the many different aspects and potential effects of sequencing the human genome. I'll write in the next couple of days about items that particularly interested me.

But first, what is genomics?

I hate to admit it, but when I first joined a group at the Utah Department of Health to discuss genomics, I had no idea what it was. Surprising to me was the fact that others gave me quick definitions, but they varied considerably. So, here's some of the ones you might consider:

Wikipedia: Genomics is the study of an organism's entire genome. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of single genes, their functions and roles, something very common in today's medical and biological research, and a primary focus of molecular biology, does not fall into the definition of genomics, unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

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Restoring eyesight through gene therapy

Only a few patients have been tested so far, but the prospect of restoring sight to patients with a specific genetic condition is being tested. You can see the Good Morning America presentation and read news articles about the procedure here.

The inherited retinal disease is called leber congenital amaurosis; it prevents the retina from processing light.

The treatment is very quick--surgery lasting only an hour--but the preparation for the ability to transfer the key gene into the retina has taken over 10 years. It was especially interesting to me to hear that the profiled patient came to the States for her treatment because she couldn't find treatment where she lived. According to an excellent and informative site that gives information on gene therapy:

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How to find specific blog entries

Because our organization is currently operating on no outside fundiing, we've chosen to keep our website simple. One loss, as far as I'm concerned, is the inability to search for specific blog entries using key words. I'm sorry that is the case. A search engine that is not flexible enough to find what you are looking for is worse, we believe, than nothing.

So, here's what you do if you are interested in a particular topic: click on the linkis at the left, by subject. There was only one entry in bioweapons--the blogger quit almost immediately, so that's not on the list. However, the other general topics are. They look really weird, you say. That's true, but for some programming reason I do not understand, such topic lists look weird on a number of sites--including those written by professionals who really know their html, etc.

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Jolee Mohr took part in a gene therapy clinical trial--and died

According to Wikipedia, "death is the permanent end of the life of a biological organism." My younger daughter would consider that a "scientific" definition--lacking humaness and empathy. This approach was also the approach I viewed this morning.

Today's review of the death last July of a young woman participating in a gene therapy trial was webcast and I did manage to get up at 5:00 am to watch all 7 hours of the live video. The meeting and review of gene therapy trials in general and this particular death were definitely "scientific". Even though I am familiar with much of the language of clinical trials, I had trouble following many of the details of the specific gene therapy and rheumatoid arthritis. If anyone doubted that the presentations were factual and unemotional, you only needed to hear the first and last sentence spoken by the victim's husband to get back to reality:

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