Talk

There’s been an interesting flurry of research and discussion about autism and autistic spectrum disorders in the news lately. In the past few weeks, studies about prevalence and genetic correlations have been accompanied by journalism about life for families with autism. Autistic spectrum disorders are a personal area of interest to me, although my life has not been personally touched by them. Here’s a quick round-up of research, profiles, and discussion.

NPR’s “Talk of the Nation”: “Researchers scan the genomes of the largest collection of families with multiple cases of autism ever assembled, looking for common factors. Research in the journal Nature Genetics reports on the initial stages of a project that is hunting for genetic factors in autism The analysis found a region on chromosome 11 that appears to be shared by many of the individuals studied.” Listen to this story

NY Times Magazine, “Her Austistic Brothers.” What is life like for siblings? How autism in the family affects sibs is very different than once thought. “Tarah Perry wishes her brothers would remember to put on deodorant. Other 16-year-olds, after all, don’t need to be reminded of that by their 14-year-old sister. Other families don’t keep a stick of Degree in the glove compartment to enforce deodorant compliance on the way to school in the morning. Granted, Justin and Jason are different from other brothers — they are autistic twins — and Tarah’s family is therefore different from other families, and generally speaking she is perfectly O.K. with that.” Read more

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I’ve posted recently on Ashkenazi Jewish genetic diseases. Here’s one you don’t hear about that often: Bloom Syndrome. It’s is a condition that, although very rare in the general population, has much higher carrier rates among Ashkenazi Jews. What is Bloom Syndrome?

• One in 100 Ashkenazi Jews are unaffected carriers – they carry one copy of the gene change that causes Bloom Syndrome. When two carriers have a child together, there is a 1 in 4 chance the child will have Bloom Syndrome. (See autosomal recessive inheritance)
• People with Bloom Syndrome have characteristic appearances that include a long, narrow face, prominent nose and ears, and a smaller-than-average stature. The also have a tendency to develop patches of reddened skin on the face.
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Last night, our local PBS affiliate aired a segment on “Genetic Testing Through the Web“. (You can view the full segment online here.) Ironically, they spent more time discussing traditional methods of genetic counseling and testing services, as provided by UCSF’s Cancer Risk Program. But, they did a great job explaining what genetic counselors do and why genetic counseling is a critical component of genetic testing. It’s always good to to see GCs getting their props.

As with just about every piece that spotlights genetic testing, they profiled genetic testing for hereditary cancer risk. If it isn’t cancer, then it’s Huntington’s Disease. How come we never hear about carrier screening, and other types of genetic testing that are relevant to a much larger population?

With media coverage, I’m always fascinated to see the story-angle they take and how the final edit plays out. (more…)

Today is my birthday. Coming so quickly on the heels of the new year, birthdays have always been an opportunity to make (or reinforce) my goals and resolutions for the next year. I like to keep them short, sweet and meaningful.

Birthdays, no matter when they fall, are great triggers for doing something positive and proactive about your health. Here are important birthday milestones:

• If you’re 18, go register to vote. Seriously! As a voter, you have a voice in health care legislation. Become educated and make your voice heard by voting in your local, state and federal elections.
• If you’re 21 and a woman, get a pap smear with HPV screening if you haven’t already. It’s easiest to remember annual gynecological check-ups if you tie them to something like, oh, your birthday. (Depending on depending on your last pap results, current sexual status, and whether your last test included HPV, you may not need a pap every year. Check with your doc.)
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This week, we’re talking about science. Or rather, since this is a Week of Science, I’m only reporting on the science gossip over by the water cooler.

The development of a noninvasive test for fetal abnormalities. Here’s Medscape’s coverage, if you’ve got access.

The new screening recommendations for Down syndrome, what causes Down syndrome (trisomy 21), and why the occurence of trisomy 21 increases with maternal age. (My friend who just turned 40 is pregnant with her first child!)

FDA’s approval for over-the-counter sales of Alli (a.k.a. Xenical). Interesting that the OTC brand name sounds like your, you know, best girlfriend.

Technorati Tags: prenatal screening, down syndrome, weight loss drugs, alli, xenical, trisomy 21, nuchal cord screening, ultrasound

Karen Rothenberg, currently dean of the University of Maryland School of Law, has “made something of a specialty of the intersection of medicine, science and the law,” In addition to being the founding director of the school’s Law and Health Care program, she had a big stint at the NIH. So, it’s not surprising that she testified last week before the House about the Genetic Information Non-Discrimination Act (GINA).

What she has to say is very thoughtful, as she’s been steeped in these issues longer than most (actively studying them for 13 years). The Baltimore Sun has an interview which everyone should read, no matter which side of GINA you fall on, and especially if you’re undecided: “All in the DNA: Q/A with Karen Rothenberg”

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“We love genetics…We love genetics not…” Hsien Lei at Genetics & Health asks in this month’s Mendel’s Garden round-up of genetics bloggers. And guess what? We love genetics after all!

Technorati Tags: genetics, blogs, mendel’s garden

That fascinating gene, APOE (for apolipoprotein E), is back in the news again. You’ve probably heard of APOE as an indicator for Alzheimers disease or cardiac disease. (Around 40-65% of patients with Alzheimers have at least one copy of the e4 form of the gene. However, this gene alone doesn’t give a complete picture of risk. Previous comments)

Researchers at Northwestern University have published a study that indicates two fforms of the APOE gene, called e4 and e2, carry increased risk for cerebral palsy. In this cross-sectional study pf 209 children with CP and 209 healthy matched controls, the e4 form increased the overall risk of CP by 3.4-fold and the risk of quadriplegic/triplegic disease by 5.5-fold. Carrying the e2 form, which is much less common than e4, was associated with a 12-fold increased risk of CP.

For me, research like this just underscores the complexity of trying to associate genetic findings with everyday application into our everyday lives. Many people I talk to have the mistaken impression that each gene has one purpose and one effect. Finding a gene means we can find a solution. Like all things, genes are much more complicated than that!

Pediatrics 2007;119:306-313

The News section of today’s JAMA reports on exciting new research that may lead to more effective treatment of Gaucher disease. (How odd that I just posted on this rarely discussed condition yesterday.)

Researchers have discovered new details about the protein that is mutated in Gaucher disease. This protein, an enzyme called acid beta-glucosidase, is needed for the body’s cells to stay healthy. People with Gaucher disease produce an inactive form of the enzyme and as a result, cannot process a particular lipid. This results in liver dysfunction and the other symptoms of Gaucher disease.

This new research has uncovered a small molecule, called isofagomine, that can bind to the enzyme, changing its shape into that of an active enzyme.

Technorati Tags: gaucher disease, research, treatment, causes, ashkenazi jewish, genetics

Here are fast facts about Gaucher Disease, the most common genetic condition in Ashkenazi Jewish people.

• 1 in every 18 Ashkenazi Jews is a carrier for Gaucher disease.
• Carriers are unaffected, but when two carrier have a child, they have a 1 in 4 (25%) chance of having a child with Gaucher disease.
• Gaucher disease mainly affects the spleen, liver, and bones, and occasionally the lungs, kidneys, and brain. This disease can range in severity from mild to chronic.
• Symptoms of Gaucher disease can develop at any age, but they frequently begin during adolescence and early adulthood.
• The most common symptom is chronic fatigue caused by anemia. People may experience easy bruising, nosebleeds, bleeding gums, and prolonged and heavy bleeding with menstruation and after childbirth. (more…)

Last fall I posted on Ashkenazi Jewish genetic diseases, a number of inherited diseases that occur primarily in people of AJ descent (as a result of the “founder effect“). AJ diseases are commonly known about within the AJ community, but many non-Jewish people are completely unaware of them.

As a result of carrier screening (the ability to test parents-to-be to see if they carry a mutation for the conditions), the actual rates of individuals affected with these disease is dropping. That’s the good news. That people who are appropriate for testing don’t know about testing is the bad news. (My rant on that will have to wait until next week, when the Week of Science challenge has ended)

So here’s the skinny on how these disease are inherited, why people are “silent” carriers, and why carrier testing works:

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Welcome to A Week of Science, brought to you by Just Science and a bevy of scientists and science writers who blog. Tired of reading about culture wars, politics, social commentary and other things as they relate to science (or not) on science-oriented blogs, Just Science issued a challenge: spend a week blogging about the actual science of science.

Most of the participating bloggers are hard-core science people, but representing the common woman and laypeople who just like science, I’m throwing my hat in the ring. So this week at DNA Direct Talk, you’ll find posts about, well, the genetics of genetics. (It’s probably time for me to get off the soap-box of genetic privacy anyway.)

Technorati Tags: a week of science, genetics