Talk

Copy Number Variation in Our Genome. Over at Evolgen, RPM explains “recent work indicates that there’s also quite a bit of variation amongst individuals in the actual content of their genomes. Such variation is known as copy number variation (CNV) or copy number polymorphism (CNP). What it means is that some people may have one copy of a genomic region, other may have two, and even others may have none.” What does this actually mean? Read RPM’s commentary and Hsien’s explanation. Or, read Reuters’ boiled-down news. Or, check out Nature’s accessible but detailed article.

Proof is Scant on Psychiatric Drug Mix for Young. Many psychiatrists and parents believe that drug combinations or “cocktails” help for conditions such as ADHD. There’s a lot to be debated about this, and when it comes to children, all our concerns about drug risks are amplified. Studies in children are fewer, children’s bodies and minds are evolving, and children don’t usually get to choose for themselves. What do you think? (more…)

In October, I posted about how rescue workers from the World Trade Center were being diagnosed with Alpha-1, an inherited lung and liver disease that is suspected to be much more prevalent than once thought. You don’t hear about Alpha-1 very often — but now there’s encouraging news about a potential treatment for Alpha-1.

A clinical trial at the University of Florida has evaluated a gene therapy to treat Alpha-1 antitrypsin deficiency, and the results are promising. People with Alpha-1 antitrypsin deficiency make little or none of the alpha-1 antitrypsin protein, which is essential for health. In this clinical trial, the researchers used a virus to deliver a corrective gene that codes for the alpha-1 antitrypsin protein to 12 participants with Alpha-1 antitrypsin deficiency. (more…)

In an earlier post, I talked about Ashkenazi Jewish diseases in general. Now let’s turn to one disease in particular, Tay-Sachs, which is a disease that sadly claims the lives of children under the age of 5.

Tay-Sachs more frequently arises in children with Ashkenazi Jewish ancestry because of the increased likelihood of people in this population to be carriers. Within the general population, only 1 in 300 people are carriers of Tay-Sachs disease, while within the Ashkenazi Jewish population, 1 in 30 people are carriers.

Though it is not curable, Tay-Sachs is preventable through carrier testing when a couple is planning a pregnancy. (more…)

Yet more good news for those of us who love chocolate. Add to the list of wonderful things that moderate doses of dark chocolate can do…make your blood less “sticky,” much the way aspirin does. (Of course, chocolate is not recommended to replace aspirin or any other clot-preventing measures, but hey, I call this tasty research news.)

• Previous good news about chocolate: lower cholesterol, improve cholesterol profile, elevate mood, helps mothers grow happy babies
• NPR’s coverage
  
• My personal chocolate purveyors & their blog

What does this have to do with genetics? Well, it doesn’t, really. So here’s a “while we’re on the subject of sticky blood, did you know…” bit of genetic information: There are gene variants that can cause your blood to be more “sticky” than average (thrombophilia), which increases your risk for developing a blood clot.

Technorati Tags: chocolate, blood clotting, prevention, aspirin

The only recent coverage I’ve seen so far about the FDA’s relabeling of tamoxifen on is from the PGx Reporter, which is subscription-only. Here’s their public excerpt:

FDA Panel Leans Toward Including CYP2D6
Dx in Tamoxifen Label, But is Split on Language

The Pharmaceutical Science Clinical Pharmacology Subcommittee was split over whether the label should “recommend” the genetic test or make it an “option” for health care providers and patients to discuss.

As it considers just how strong the wording on the label should be, the FDA is looking at the role of endoxifen (the active metabolite), 2D6, and drug interactions.

We’re getting many inquiries ourselves into the Tamoxifen 2D6 Test. Here are recently asked questions and answers, and previous posts on Tamoxifen and 2D6 Testing.

Technorati Tags: tamoxifen, cyp2d6, genes, drug metabolism, fda recommendation, drug interactions, genetic test, dna

Have you had a blood clot or DVT? If so, chances are you’ve been on warfarin (brand name: Coumadin). Warfarin, a blood-thinner, is the most commonly prescribed drug for preventing and treating blood clots.

Warfarin is also known to be a difficult drug to manage, for two reasons. First, the blood levels in which warfarin is effective are very narrow, which means doctors need to carefully calibrate the dose. Secondly, people have a wide range of responses to it, which means calibrating the dose is more challenging.

Kimball Genetics (a laboratory) has just launched a genetic test for warfarin sensitivity, which better predicts an individual’s response to warfarin. This test can help your doctor determine the warfarin dosage that’s best for you — lowered risks, maximum effectiveness. (more…)

Yes indeed, colorful and humorous gene names are getting new, respectable monikers. I can’t believe we blogged about it before the New York Times covered it. Sure, it was only by a few days, but I’m glad to know we’ve got our finger on the pulse of quirky genetics news, too. I’m also glad to know people are interested in this sort of thing - of course, Sonic the Hedgehog probably had more to do with it than the lunatic fringe….

postscript: Hsien Lei’s got a list of names and some dialogue going about them over at Genetis & Health.

Technorati Tags: gene names, genetics, news

Get Your Genes On! Who’s watching the new TV show, Heroes? According to a local journalist, it reflects a cultural meme that sweeping the nation. From X-Men to ancestry DNA testing, people are getting their genes on.

Old Viruses Resurrected Through DNA. Is it Jurassic Park or Xerox Parc? A team of French scientists has rebuilt a virus that infected our ancestors several million years ago, and get this, they did so from current human DNA. The reconstructed virus is called “Phoenix” — a lovely literary allusion — and will be used to study the role of HERVs in cancer. HERVs, or , or human endogenous retroviruses, are viral DNA that are embedded in our genome. Scientists estimate that 8% of our genome is made up of this viral DNA.

Troublesome Gene Names Get the Boot. Who wants to be told they’re carrying the radical fringe gene?

The Dot-Com Bubble (and Bust) Reconsidered. Some of us at DNA Direct worked for start-ups back in the 90s, myself included. This article is casts a new light on the industry then, and is reassuring for us now.

Technorati Tags: ancestry, genetic testing, dna, virus, hervs, human endogenous retrovirus, human genome, phoenix virus, nomenclature, technology industry

If you or someone you love is considering genetic testing for breast cancer, you must read Aliyah Baruchin’s article, “In Breast Cancer, There Is a Single Agenda: Stay Alive” from last week’s NY Times. She eloquently writes about her experience, illustrating the complexity women face when considering the BRCA test.

“I was petulant about BRCA testing from the moment it was first mentioned to me,” she begins.

After I had a mastectomy, though, the idea of more surgery became unmanageable. Losing a breast was extraordinarily difficult. The body wants its own coherence; it objects, in the most strenuous terms possible, to any structural loss. No more parts for sale to the lowest bidder, was all I could think afterward. Everything else I have, I want to keep.

But here’s the important thing, the thing I learned that changed me for good: in practical terms it was all bluster. I was 43, a working journalist, with a 3-year-old daughter and a remarkable husband. Of course I was going to be tested.

(more…)

I just returned from vacation to find a great article in National Geographic about how genomics is - and will increasingly - affect the practice of medicine: Personalized Medicine Promises Tailor-Made Diagnoses, Treatments

Here’s a clip to encourage you to go check it out:

The genetic variations can be used to identify susceptibility to a particular disease and to pinpoint targets for drug treatments.

Currently drug courses are often ineffective. Physicians may have to prescribe several different treatments before identifying one that works.

“Personalized medicine is about changing the medical paradigm,” said Edward Abrahams, executive director of the Personalized Medicine Coalition in Washington, D.C. “It promises to replace trial-and-error medicine with a more targeted get-it-right-the-first-time approach.”

(more…)

Most people haven’t heard of Rett Syndrome, a neurodevelopmental disorder that affects primarily girls. The disease is unfamiliar because it was only in 1983 that Rett syndrome first began appearing in medical literature. Before this time (and still sometimes now), those with Rett syndrome were likely misdiagnosed with autism or cerebral palsy.

One of the hardest parts of Rett syndrome is that girls have normal development for the first 6 to 18 months and then their development plateaus. Gradually, they begin to lose motor function, lose the ability to speak, develop uncontrollable hyperventilation and seizures, develop scoliosis, and regress developmentally in other ways as well. Many of these difficulties stem from apraxia, which is the condition where the girl’s body cannot do what her brain tells it to do.

Rett syndrome occurs approximately once in 8,000 female births, but these numbers may be on the low end. The International Rett Syndrome Assocation (IRSA) notes that there may be hundreds of thousands of girls and women with Rett syndrome throughout the world who are misdiagnosed or unidentified. (more…)