1000 Genomes Project

For as long as I can remember my parents have been telling me that I'm special (in a good way, not in the derogatory way the kids are using the term these days). Most of us start life out thinking that we're unique and the more we learn about life, and the more it kicks out asses we become so disillusioned that we cease believing we're really all that special.

But, new data generated by the 1000 Genomes Project recently confirmed that our parents have been right all along. The 1000 Genomes Project is an effort to sequence the genes of 2,500 people from around the world in an attempt to fill the gaps in the draft sequence of the human genome left by genetic variation. 

The draft sequence was established in 2000 by teams led by J. Craig Venter and Francis Collins. While that was a breakthrough moment in the field of genetics because it enabled the study of diseases caused by changes in our DNA, it only took us so far. 

Genetic variation refers to the differences in the human genome between individuals (ie: if my code is AGTCAGTC, yours might be AGCCAGTC). That kind of a difference can have a huge impact on how disease manifests itself, therefore studies looking for treatments for genetic-based disorders (Alzheimer's, Parkinson's Disease, Cancer, etc.) are hindered by these variations. 

The new data obtained by the 1000 Genomes Project, is a 95% map of human genetic variation. The results of the study show that each individual person has an average of 75 variations (single nucleotide polymorphisms, or SNPs, which are changes in the code like I described above). These variations are essentially what makes each of us different from everyone around us. My parents were right, I am special, but something tells me they weren't referring to my genes. 

This is exciting for a few reasons:

1. Millions of dollars have been invested in this project, it is good to see something actually come of it. 

2. A better understanding of variation can enable more progressive research on genetic disease, from causes to treatments. 

3. Genome sequencing technology is advancing quickly, and making interesting research like this a reality. Expect more projects like 1000 Genomes, it's definitely about to get ambitious in here. 

4. A project like this sets important standards for open access information and data sharing among researchers for genetic studies at this scale. 

Read more: 

Nature: 1000 Genomes Project reveals human variation

The BBC: 1000 Genomes Project Maps 95% of all Gene Variations

Telegraph (UK): Scientists from 1000 Genomes Project have identified 95 per cent of genetic variations

Lobster Lovin'

Go ahead, ask me about lobster sex. I know far more about lobster love than I ever really wanted or would need to know thanks to Trevor Corson's book The Secret Life of Lobsters. I read Corson's book for J669 and I have to say, it was a struggle to get through even though I did find a lot of elements in the book compelling.

Corson interweaves lobster research in with the lobster fishing industry of Maine to drive the book forward. The personal stories of the lobster men and their families add a lot of interest to the book. But, toward the end I really found myself struggling to finish the last few chapters because the research was so boring.

Homarus Americanus (The species found in Maine)
Source: Wikimedia Commons.

The first few chapters about scientific research focus on how a lobster molts (sheds it shell so it can grow) which I found really interesting, and about how lobsters mate. Is it stereotypical that I was entertained by the chapters about lobster sex, but once the book started focusing on lobster habitat and the lobster's life cycle I found myself hopelessly bored?

I really pushed myself to get through all of the pages of description detailing the fluctuations in the lobster population and how lobsters migrate and where lobsters live during certain parts of their life. The hardest part about those chapters was that Corson never arrived at any conclusions. The researchers he wrote about work really hard to pinpoint why the lobster population fluctuates, and after all those pages they don't reach a conclusion. Ending with the idea that populations naturally vary was so anti-climactic. I was disappointed.

Actually, the book officially ends with a discourse on whether or not it is humane to boil lobsters live, which I find sort of perfect. But the rather piddly end to the scientific research was still a let down.

Trouble in MarieClaire's Blogosphere

Now, I'm not a fashion or lifestyle writer but I think the controversy over MarieClaire blogger Maura Kelly's post "Should 'Fatties' Get A Room (Even On TV)" is worth mentioning. Kelly is a professional blogger, her career is posting her opinions on the internet. But, by coming out with the opinion that fat people shouldn't be shown in intimate scenes on TV because it grosses her out, she has caused a firestorm. The controversy has raised a lot of questions about professionalism in the blogging community.

I suggest you read her article, and then review the comments posted below it by readers. As a blogger it is all well and good to share your opinions, but where do you draw the line? Kelly is a representative of MarieClaire - not just of herself. By branding MarieClaire with her opinion she has apparently cost them a tremendous amount of business (if you believe the comment writers, at least). What standards do magazines and other companies use to hire bloggers? Are there any standards?

In the apology that she added to the original article, Kelly brings up that she suffers from anorexia and has had a life-long obsession with being thin. Hmm. That might have something to do with why she finds it unacceptable for overweight people to get romantic. Crazy thought, that MAYBE her personal background should constitute a conflict of interest and she should never have be allowed to blog about weight issues in the first place. As a writer, it was her responsibility to identify that conflict of interest.

Even if you feel you can be objective, you just can't write about issues with which you have a personal connection without disclosing that information properly. I can't write about issues involving law enforcement because so many members of my family are involved in that career field -- it is the reason I will always get tossed off jury duty. It gives me bias. As a writer you have to know yourself, and be honest with your readers about your personal conflicts of interest when they are applicable to the subject you are writing about.

But is a blogger really a professional writer? I am very interested in Ms. Kelly's background. Does she have a journalism degree? Does she do any research, or does she just spit out her own opinions? Why should anyone care what she says? Who is Maura Kelly? What makes her qualified to eschew her thoughts on an issue like popular conception of body image in the entertainment industry?

I wish someone would pay me to say whatever thoughts cross my mind. Maybe they'll be an open position for blogger at MarieClaire sometime soon? I wonder if they need a science writer...

The Immortal Life of Rebecca Skloot

Today I met Rebecca Skloot, the author of The Immortal Life of Henrietta Lacks, mentioned in my previous blog post. Skloot's book is the UW Madison Go Big Read program's selection for this year, so she gave a public lecture last night, and visited the journalism school this morning to take questions.

As far as author presentations go, I loved this one, because Skloot pretty much just plopped down in a chair and said what do you want to know? It was a small group (25-30 people) but the discussion kept up for over an hour just based on audience questions. My question for her was whether she was prepared for the Lacks family's lack of science education and how she viewed her role as a journalist but also as their teacher. Her response was that the two roles were essentially one because her reporting style is based around an informal conversation, but that she wasn't really prepared for how confused they were about what HeLa is.

Other questions that were asked ran the gamut from the business of publishing a book, to how Skloot handled Deborah's death and incorporated it into the book, how she decided on the structure of the book, and how she handled (and organized) 10 years worth of notes. She was an engaging speaker, and was even willing to talk about some of the criticisms of her that have come up since the book came out.

The biggest criticism of Skloot out there is that she isn't doing enough to help the Lacks family. But, she has set up a foundation for them -- and I think its important to remember that for 10 years Skloot was accumulating debt chasing down this story, if the book hadn't been a success she'd definitely be in the hole so I agree with her unapologetic attitude toward the money she's made from the book's success.

She also mentioned that she sometimes gets push back from people who don't agree with the fact that she kept all of the interviews in their original dialect (people saying it puts down the lesser educated black people who don't speak with proper grammar) but Skloot points out that she kept the dialect and "broken" English of European and Asian researchers as well as the Lacks family.

According to Skloot the biggest problem she's encountered so far has been from the white members of the Lacks family. In the whole two pages that the white Lackses are discussed, they definitely appear as racists. But, it is Skloot's word against the word of the children of her sources (her sources are now dead) who have argued that Skloot couldn't possibly have done the interviews because their parents wouldn't have said the things Skloot says they did.

Considering how utterly unimportant the white Lacks family is to the story, it's sort of absurd to think that Skloot didn't really do the reporting. It would be such a dumb part of the story to make up, so I'm inclined to believe that the interviews are true.

This book is undoubtedly going to be Skloot's literary legacy, so overall it was fun to get another first hand perspective on what it takes to research, write, and market a successful science book.