Science is more than just the here-and-now. The personal stories and daily struggles behind major discoveries and throughout the history of science are just as fascinating and important. Scientists Anonymous: Great Stories of Women in Science by Patricia Fara for children age 12 and over captures the stories of some women scientists, including Rosalind Franklin. And while I’ve not made any major discoveries in genetics, I have contributed some to scientific knowledge. Now at the end of the year, I’d like to show you that there truly is a scientist behind Genetics and Health. Here’s the story of my own anonymous scientific career.

My scientific career went off track almost 10 years ago because my husband and I decided to go wherever his job dictated. Since 1998, we’ve moved to a different country every two to three years on average. While I’ve enjoyed and been enriched by life in different cultures (Taiwan, Japan, Vietnam, and now the UK), there’s no question that had I not been married at the time I graduated with my PhD, I would have stayed in academia for at least a few years.

Instead, I did a post-doc in Taiwan, moved to Japan and realized that without fluency in the local language, I would always be expected to act as a glorified English editor instead of getting the chance to lead my own studies. So I took a break from science but continued to be (re)productive; we had a baby and I moved into science editing. And as fate has always been kind to me, I was lucky to have joined b5media a year ago to write and support others in the same endeavor.

Occasionally, I miss being in a rigorous scientific environment, arguing with others over theories and hypotheses. I loved all of that and more but that doesn’t mean I don’t enjoy what I do now, which is probably better suited to my temperament anyway. When Janet Stemwedel at Adventures in Ethics and Science wrote in July about her experience having a family and an academic career, I was in awe yet knew that type of life wouldn’t have suited me. But I’m very glad that science is beginning to accomodate women with different life trajectories as well as different interests in the many facets of science.

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From a Books for Keeps review of Scientists Anonymous: Great Stories of Women in Science:

This book gives a fascinating account of the scientific work done by women over the centuries and makes it very clear that, leaving aside prejudice, the disadvantages from which they have suffered lie not in their mental abilities but rather in their domestic circumstances. Indeed many of the examples described here are of women managing to carry on their scientific work from their own home surroundings. It becomes clear that in today’s world it is often the way in which scientific work is organised that militates against a woman’s career in science. Certainly the constant need to look for funding does not help women who have a career break or who want to have more family friendly employment. If this book is read by boys as well as girls, then future male scientists might be more encouraged to rebel against the demands of the competitive (and sometimes cutthroat) scientific framework.

Disadvantages can be advantages depending on your perspective.

Happy New Year! And may your perspective see more advantages than disadvantages in 2007.

Tags: science, scientists, women, new year, 2007, genetics, genes, dna, health

Most women considering pregnancy know how important it is to take folic acid even before they are actually pregnant because spina bifida, an incomplete formation of the spinal column, develops in the first month of gestation. The Spina Bifida Association gives the following statistics:

• Approximately 70,000 in the U.S. are living with spina bifida
• 60 million women are at risk of having a baby born with spina bifida
• Everyday, an average of 8 babies are affected by spina bifida or a similar birth defect of the brain and spine
• Each year, about 3,000 pregnancies are affect by spina bifida

Recent research from the California Birth Defects Monitoring Program has found two genes involved in choline metabolism that may play a role in spina bifida - human choline esterase A (CHKA) and CTP:Phosphocholine cytidylytransferase (PCYT1A). The gene for CHKA has a variant that is associated with a decrease in the risk of spina bifida and a variant of the PCYTA1A gene is associated with a two-fold increase.

While a higher intake of choline by pregnant mothers reduces the risk of spina bifida, maternal consumption of choline and the fetus’s own genetic predisposition to spina bifida did not appear to interact. So it’s not clear whether there’s a third way in which spina bifida can develop that is influenced by maternal choline intake and the fetus’s own ability to metabolize choline.

NB: January is Birth Defects Prevention Month and January 8 - 14, 2007 is Folic Acid Awareness Week.

Medical News Today, December 28, 2006

Tags: folic acid, choline, genetics, genes, dna, spina bifida, birth defects, folic acid awareness week, pregnancy, babies, fetuses, diseases, illness, health

Can bloggers and talking heads please shut up about New York City and now Universal Studios banning trans fats?

You’d think these entities were banning butter and fat outright. Trust me, there’s plenty of lard to go around, people. Plenty of people will still have the right to clog their arteries, lower their HDL, and raise their LDL. They’ll just have to work a little harder at it.

Trans fats, you will be not be missed. No one will notice the difference. Muffins and cookies have existed for much longer than trans fats. I think we’ll survive.

Ordinarily, I write about genetics and human health but I couldn’t resist this New York Times article about the effects of extreme inbreeding on the Japanese rare dog scene.

Rare dogs are highly prized here, and can set buyers back more than $10,000. But the real problem is what often arrives in the same litter: genetically defective sister and brother puppies born with missing paws or faces lacking eyes and a nose.

There have been dogs with brain disorders so severe that they spent all day running in circles, and others with bones so frail they dissolved in their bodies. Many carry hidden diseases that crop up years later, veterinarians and breeders say.

That sounds like animal cruelty to me and also reminds me that PermaPuppies aren’t too far from reality.

Tags: nextgencode, michael crichton, next, permapuppy, dogs, puppies, japan, inbreeding, genetic defects, genetics, genes, dna, diseases, illness, health

Chris Williams of The Register has a review of the National DNA Database (NDNAD) in Britain, which I’ve covered at length here at Genetics and Health. The piece focuses on the state of forensic science and DNA analysis, mentioning DNAboost that is capable of analyzing contaminated or degraded DNA samples. And, of course, there is a great deal of discussion about the NDNAD’s “mission creep.”

The government revealed the full extent of the NDNAD’s innnocents roster only recently, bumping it up to 1,139,445 in response to a parliamentary question. The new figure is eight times a total given earlier in the year.

Such civil libertarian collywobbles do not wash with the Prime Minister, who on a visit to the FSS said there should be “no limits” to the size of the NDNAD, and has volutarily submitted his own genetic profile.

Whether we like it or not, all of our genetic information will eventually be in one or more databases; attached to our medical records or accessible by law enforcement. The bigger issue, I think, is not that we are no longer able to keep our DNA sequences (and mutations) a secret, but finding a way to control how that data will be used, especially if it will be used against us.

Let’s lock up the criminals! Just don’t confuse me for one of them.

Tags: genetics, genes, dna, dna database, ndnad, crime, criminals, health, law, privacy