Tag Archives: biology

Jumping from genetic research to prenatal testing

15 Jun

“Caring for autistic people is hard… Do I hope that early interventions can be devised to wipe the

Photo by Flickr user themickeyed

human race clean of autism? No, I do not.”

–Charlotte Moore, mother of two autistic sons, The Guardian

Charlotte Moore was responding to the biggest news in autism research in decades: The Autism Genome Project’s study of rare genetic variants in just under one thousand autistic individuals– the largest ever study of the genetics of autism.

The study followed 996 people with autism spectrum disorders (ASD) and 1,287 people without the condition. The researchers looked at a specific type of DNA:  rare ‘copy number variants’ (CNVs). These missing or duplicated pieces of DNA are found in or between genes. The study reported that people with ASD had 20% more rare CNVs within genes.

The study, published online at Nature last Wednesday, revealed new genetic clues to the condition and could be used to develop a diagnostic test.

Although it could take years to develop a prenatal test for autism, the possibility has created hope and fear for some parents. As a mother of two young sons, Charlotte Moore says she can see the benefits of such a test, but is concerned about how this research may represent the first stepping stone toward  a world without autistic individuals.

This concern seems oddly familiar. In fact, there was a similar reaction to research on the genetics of autism published in 2009 by Simon Baron Cohen, a prominent scientist in the field. Baron-Cohen blamed the media for distorting his research results.

And now here it is again.

There is a persistent fear that a prenatal test for autism will come out of research into the genetics of the condition. This couldn’t be more apparent than in the The Globe and Mail’s story.

Making the leap from this important piece of research to prenatal testing is a leap made too hastily. Research into the genetics of autism is still in its infancy. This alone is reason enough to widen the gap between fundamental research and its real-world implications. The question of which conditions should be tested for prenatally and which should not is an important debate, but stories that emphasis this aspect of the research are missing the point.

The point is that we now understand just a little bit more about the genetic complexity of autism. It may not be an easy point  to grasp, so here are a few links to stories that I thought did a good job of explaining what the research is about and why it matters.

My top choices for related stories:

Myriad genes reveal autism’s diversity

Large-Scale Autism Study Reveals Disorder’s Genetic Complexity

Big Autism Study Reveals New Genetic Clues, but Also Baffling Complexity

Rare genetic variants linked to autism

The genetics of autism– The Guardian story tracker


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Prenatal Genetic Testing: The Choice to Know More

9 Jun

Photo by Flickr user Scott McLeod Liddle

I can still remember my first radio skills class. Kathryn Gretsinger, veteran CBC radio journalist, was standing at the front of the class, playing a story for us.

The story was about a woman’s grief, her desperation. It brought the listener into her world; it revealed a side of her humanity that was so disarming it reminded me of how much we all share despite being from different countries, speaking different languages.

But what struck me the most was the power of the medium. It was intimate yet fleeting, undoubtedly concrete and clear, but still leaving much to the imagination. It was like watching a movie with your eyes closed. I was sold.

Over the last year of my degree, I worked with Kathryn to craft a story about women, their children, and the choices they must make early on in pregnancy. It was an incredibly rewarding experience. Not only did I learn from the women and experts I interviewed, I also gained valuable insight into what it takes to tell a compelling story, a story with heart.

I can’t thank Kathryn, and the women I interviewed, enough for their time and patience. But I can thank them in some small way: I can share this radio documentary with you.

Monica Tanaka

Photo by Flickr user teppei1111

UBC Student journalist

Originally published on the Thundbird.ca

It’s a choice that many pregnant women struggle to make. How much do you need to know about your baby before it is born?

For some women, knowing more would not be helpful. It could be a source of stress and anxiety. For others, the results from a genetic test could be reassuring; it’s a way of knowing and being prepared for what could come. It’s a deeply personal choice. No one can tell a woman what’s right for her.

There are many factors that influence a woman’s decision on whether to have prenatal genetic testing. For starters, the science behind the tests can be difficult to understand. Then there are the ethical questions raised by the test itself. Is it discriminatory? Is it sending a message?

To explore these questions, Monica Tanaka spoke to the people whose lives are in the thick of it. She talked to pregnant women who chose to have the test, and to those who chose not to, as well as to genetic counsellors and a bioethicist. The interviews, and the process of making sense of the issues, took place over nearly six months.

Click to listen to the audio documentary that takes you into the lives of two pregnant women who had to make choices about prenatal genetic testing. You’ll also hear from the experts as they delve into the details that stem from the process of offering these tests.

Correction: The laboratory mentioned in the documentary is the Prenatal Biochemistry lab, not the Molecular Genetics lab, at BC Women’s and Children’s Hospital.

The Autism Files: Vaccines and Drugs

5 Jun

I recently watched a PBS Frontline documentary, The Autism Wars.

Photo by Flickr user ghinson

I learned that one in three Americans are concerned about the rare yet serious side effects of vaccines.

I also learned that the debate over whether vaccines cause autism is still alive and thriving.

In fact, despite numerous scientific papers supporting the claim that there is no causal relationship between autism and vaccines or autism and thimerosal, the scientific establishment appears to be loosing the battle.

In many respects, it has come down to which army has built the most vociferous PR campaign.

The Autism Wars is worth watching for a few important reasons. If you’re unfamiliar with the debate, it clearly outlines the major arguments held by both sides. If you’re well-versed in this issue, it’s an engaging perspective of the current state of affairs south of the border. I would be very curious to know what Canadians think of the issue.

But most importantly, the documentary highlighted the power of new media to ‘overwhelm’ the debate. The disturbing video of Desiree Jennings, a cheerleader displaying unusual symptoms attributed to the seasonal flu vaccine, is but one example.

A vocal critic of the autism-vaccine causal relationship is Ben Goldacre pictured below.

Photo by Flickr user vbloke

He is a medical doctor and award-winning journalist who writes a blog, Bad Science.

It is the goldstandard for ‘unpicking dodgy scientific claims made by scaremongering journalists, dodgy government reports, evil pharmaceutical corporations, PR companies and quacks’.

His stories (see MMR-Never Mind the Facts) represent a small but considerable attempt by the scientific community to use the media to spread their message.

Although this debate has not yet closed its doors, the New Scientist reported an interesting new development in the world of autism research. Drug companies like Seaside Therapeutics are developing drugs that will treat the symptoms of autism. The drugs are intended to alter the brain chemistry of people with autism, changing their social behaviour in the process. It’s an interesting concept.

But would the parents who believe a vaccine gave their child autism give that same child a drug that will change their brain and thus change their personality?

Stay tuned. There will be more to come on the Autism Files.

Hello!

29 May

Welcome to Of Mind & Body

Photo by Flickr user ~jjjohn~

This is a blog about culture and biology. As the science communicator in residence, I invite you join me as I navigate the complex and fascinating world of the thing we call ‘mind’ and other thing we call ‘body’.

I will examine the strange, the obscure and the hottest trending topics of the day in science as they relate to the mind and body.

But wait a sec, are the mind and body one and the same, or two separate things?

I’m not sure! Best guess: they occupy a category that defies definition.

Settling a debate that has been raging for millenia is not the focus of this blog. It’s about discovery and inquiry. Finding out more about the human body and psychology is the inspiration behind Of Mind & Body.

You could say it all started with my first undergraduate biopsychology class at McGill University…