Talk

Ooh, a veritable grab-bag of reading and coffee break discussion in today’s Science Times! Don’t miss fun graphics, videos and other things high school science teachers might want to substitute for today’s curriculum.

I’m happy to see evo-devo getting the spotlight: From a Few Genes, Life’s Myriad Shapes. Here’s a teaser:

Since its humble beginnings as a single cell, life has evolved into a spectacular array of shapes and sizes, from tiny fleas to towering Tyrannosaurus rex, from slow-soaring vultures to fast-swimming swordfish, and from modest ferns to alluring orchids. But just how such diversity of form could arise out of evolution’s mess of random genetic mutations — how a functional wing could sprout where none had grown before, or how flowers could blossom in what had been a flowerless world — has remained one of the most fascinating and intractable questions in evolutionary biology. (more…)

This edition’s theme is, loosely, Genetics 2.0. Let’s start with the landscape:

Genomes and Haplotypes and SNPS - oh my! Everyone’s who needs to read Keith’s post at Omics! Omics!. He’s given us the perfect primer for everyone who’s read a press release about a new fill-in-the-blank genome-related discovery, and wondered what they were leaving out … of the press release, and their data. This post should be required reading for everyone in my industry.

“Do Genetic Association Studies Matter?” Once you’ve done your Omics homework, read Thomas’ post at Epidemix. The short answer: No. Yes. Maybe. Stay tuned. Like many, I’ve stopped blogging about “this gene association just found!” as the press release pile up, and am holding out for “this association just confirmed by multiple, world-wide population studies.” Now the challenge is how to track the studies until a critical mass is reached remains.

One Man’s Junk Is Another Man’s Treasure: GrrlScientist at Living the Scientific Life has a lovely, readable-for-the-non-scientist post about how so-called “junk” DNA actually plays a powerful role in how the genome functions. We’ll keep watching the Encode project to see.

(Dare I mention the growing trend of SNPs associated with risk in non-coding regions, say…TCF7L2 and diabetes risk. Oops did that just slip out?)

Now, what 2.0 might mean for you and your genes: (more…)

Over at Eye on DNA, Hsien just interviewed someone who took deCODE’s T2 test for diabetes risk to see what it was all about.

This week, I interviewed cardiac nurse Kendra James of Diabetes Notes and A Hearty Life about her experience with the deCODE T2 genetic test and although she had already been diagnosed with type 2 diabetes, it was still an interesting experience for her.

Hsien asked whether Kendra would consider having her daughters tested for this or any other genes. As the mother of a three-year-old, this made me think. When talking about genetic risk information, it’s important to consider a child’s right to privacy, or you might call it, a child’s right to not know. Young children aren’t in a position to make educated, informed decisions about things like the impact of genetic risk information. As parents, we are their proxies until they reach the age of 18. So unless genetic information were to affect their immediate health, I think that choice lies with them, not us.

I am absolutely interested in genetic risk information for myself — I agree with Kendra’s “knowledge is power” sentiment. With risk information, you can make choices about prevention (and perhaps, stick to them with greater determination). But, in terms of children’s health, as a parent you can make lifestyle and other choices based on family history alone, i.e., “Mom has a genetic risk and it has such-and-so inheritance pattern — which means you’ve got the risk of a risk. When you’re older, you can choose whether to learn if you carry the risk or not.”

Parents out there, what do you think? Ethical watchdogs? Genetic counselors — I know you’re steeped in this — give us your two cents.

Technorati Tags: decode t2, type 2 diabetes, risk, dna, genes, genetics, testing, personal story, considerations for children

Natalie Angier has compiled all you ever wanted to know about the marvels of the sperm cell in a rapturous ode to our paternal biology:

[I]n our insistence that men are more than elaborately engineered gamete vectors, we neglect the marvels of their elaborately engineered gametes. As the scientists who study male germ cells will readily attest, sperm are some of the most extraordinary cells of the body, a triumph of efficient packaging, sleek design and superspecialization. …when cast into the forbidding environment of the female reproductive tract, they will learn on the job and change their search strategies and swim strokes as needed.

Sperm are also fast and as cute as tadpoles.

Technorati Tags: father’s day, sperm, reproduction, function, anatomy, summary

A new review of the deCODE T2 test for diabetes risk is in — from someone who is a blogger and a nurse, and has type 2 diabetes. Kendra James over at Diabetes Notes talks about both the test and her experience testing through my company. So, I was a bit nervous when a friend emailed me the post.

The good news (for me, as content director):

DNA direct sent me a little email hello to let me know my results were ready, and I just clicked the mouse, logged in and yee-ha, there they were. DNA direct explains the test results in depth and provides many resources to better understand them. They even offer a letter that can be printed out and taken to your doctor. How cool.

They also have a whole team of geneticists and specialists that can provide support and guidance for each individual “tester”. There is a plethra of websites and phone numbers that are also offered to all those that choose to complete deCode’s T2 risk marker test.

The debate (which Hsien and others have echoed):

And that brings me to the only real negative in the whole testing process. Because the deCode T2 Risk factor test is a choice and not a necessary, the cost is $500. You really could argue either way. “Isn’t $500 worth knowing your future and how to prevent diabetes?” The other… “Why pay $500 to find out that you might be at risk. Just eat right and exercise, and that’s all you can do!”

Kendra asks: Would you be interested in taking the test? I’m curious too, so go over to Diabetes Notes and weigh in!

The last Ashkenazi Jewish genetic condition left for me to cover, aside from Cystic Fibrosis which has high carrier rates for all people with Caucasian ancestry (1/25), is Niemann-Pick disease. There are five subtypes of Niemann-Pick disease, though only Type A is more frequent in Ashkenazi Jewish populations.

• Niemann-Pick disease Type A is a neurodegenerative disorder that causes babies to experience feeding difficulty, recurrent vomiting, and enlargement of the spleen and liver. Like Tay-Sachs disease, a child’s decline can be rapid and death usually occurs by 3-5 years of age, due to infections such as pneumonia.
• 1 in 80 Ashkenazi Jews are carriers of Niemann-Pick Type A.
• Genetic testing can tell whether you are an unaffected carrier of Fanconi anemia. Testing detects 99% of carriers for Niemann-Pick Type A.
• Niemann-Pick Type A is inherited in an autosomal recessive fashion, which means that in order for a child to be affected, he or she must inherit two copies of the gene change — one from each parent. If your partner is also a carrier, you have a 1 in 4 chance of having a child with Niemann-Pick Type A disease.
• National Niemann-Pick Disease Foundation
• Other Ashkenazi Jewish genetic conditions
• DNA Direct’s FAQs on Ashkenazi Jewish genetic testing
  

Technorati Tags: niemann-pick disease, type a, ashkenazi jewish diseases, carrier screening, genetic testing, dna

Start your week off two great genetics blog carnivals: Gene Genie #8 hosted by Eye on DNA and Mendel’s Garden #15 hosted by The Daily Transcript. (I love the photos of Gregor Mendel at the beach!)

Of their highlights, I noted:

Commentary on open access genomic info vs. genetic privacy, it seems the genetic privacy discussion is part of my daily professional life. So, what do you think about genetic privacy?

What Hsien calls the “catfight” over the discovery of diabetes genes, since you see this happening all the time in research and the media who cover the research (who’s egging them on, after all?). And yes, I know, since DNA Direct is offering the only available test for a diabetes genetic risk factor (TCF7L2, aka the deCODE T2 test), I can’t weigh in on this debate, but I will simply say, anyone considering testing or writing off testing should do their homework about their personal risks and ask themselves, what can someone do with test results and what would you do. (more…)

Can you think of any better coda to making the Nobel-prize winning discovery of DNA than to be handed the sequence of your own, personal genome? Better yet, to be the first to ever receive your fully sequenced genome?

Rarely is life that poetic, but yesterday Dr. James Watson was presented with two DVDs (two DVDs?! anyone else think that’s funny?) containing the sequence of his genome by Richard Gibbs, director of the Human Genome Sequencing Center at the Baylor College of Medicine, and Jonathan Rothberg, founder of 454 Life Sciences, which did the sequencing. Upon presentation Gibbs said,

“When we began the Human Genome Project, we anticipated it would take 15 years to sequence the 3 billion base pairs and identify all the genes. We completed it in 13 years in 2003 – coinciding with the 50th anniversary of the publication of the work of Watson and Dr. Francis Crick that described the double helix. Today, we give James Watson a DVD containing his personal genome – a project completed in only two months. It demonstrates how far the sequencing technology has come in a short time.” (more…)