genomeboy.com

(CNN) – Earth Day may fall later this week, but as far as former NASA astronaut Edgar Mitchell and other UFO enthusiasts are concerned, the real story is happening elsewhere…Mitchell grew up in Roswell, New Mexico, which some UFO believers maintain was the site of a UFO crash in 1947. He said residents of his hometown “had been hushed and told not to talk about their experience by military authorities.” They had been warned of “dire consequences” if they did so.

[via The Awl, which I love]

In the current New England Journal of Medicine, David Goldstein wrote:

If common variants are responsible for most genetic components of type 2 diabetes, height, and similar traits, then genetics will provide relatively little guidance about the biology of these conditions, because most genes are “height genes” or “type 2 diabetes genes.”

In response, a friend of mine emailed and asked:

“What I find difficult to accept is that [Goldstein] has ongoing [genome-wide association] studies, so does he not believe in his own work?”

My response: I can’t speak for David, but having just read his commentary, I think he would say that if you’re going to do GWAS, the disease itself should probably not be the phenotype under study, because we’ve done those studies and so far they’ve produced a failry shitty ROI, at least by conventional definitions of clinical relevance. You’ll have more luck studying endophenotypes, e.g., drug response, brain structure as measured by MRI, a decline in working in memory, etc.

In an accompanying commentary, Joel Hirschhorn wrote:

I believe that the skeptics’ arguments either misconstrue the primary goal of genomewide association studies or are contradicted by their findings. The main goal of these studies is not prediction of individual risk but rather discovery of biologic pathways underlying polygenic diseases and traits. It is already clear that the genes being identified expose relevant biology.

Hmm. Yes of course we’ve learned a lot of biology, but isn’t this moving the goal posts a little bit? In the grants we write, do we not extol the clinical relevance of our work and the enormous promise it holds for diagnostics, therapeutics and–gasp!–actual cures for the diseases that ravage our species? Or do we modestly say, “Each discovery of a biologically relevant locus is a potential first step in a translational journey?” If we acknowledge that 100 years elapsed between the elucidation of the chemical makeup of cholesterol and the development of statins, does that make it okay? Given that 45 years have passed since the recognition that human response to anticoagulant drugs is genetically mediated and we STILL can’t agree about whether pharmacogenetic testing is a good idea, do we just shrug and say, “It is what it is?”

As I’ve said here before by way of disclosure, David Goldstein is a friend and colleague. Even if I don’t always agree with him (and I think he’s wrong when he offers the usual broad indictment of the personal genomics companies), I admire his willingness to — as Richard Preston said of Craig Venter — fart in church.

In the end I’ve had about enough of this debate. It is as if we are arguing over the merits of the compact disc when we all know its days are numbered. Within two years, I imagine that most everyone doing molecular human genetics and genomics of any kind will be sequencing whole genomes.

Whether anyone will understand the data is another matter…

Bob, who’s owned wild animals all his life, admits Higgins has not always been a model pet. When Higgins was 3, he slept with the couple, often awakening Bob in the morning by climbing to the bedroom rafters and dropping onto Bob’s stomach. On one occasion, they got in a wrestling match, and Higgins put one of his “steel-like fingernails” through Bob’s scrotum.

Bob has considered moving him to a sanctuary, but “I’m just too attached to him,” he says.

…

Bob has been bitten several times by Higgins, who now weighs 50 pounds and has large incisors. Once, when Bob was leading him from an outdoor enclosure back to his cage in the house, Higgins exploded and the two got into a battle so ferocious that despite the steel mesh glove Bob was wearing, he screamed for Carlie to get his .22 rifle and put a bullet in Higgins’s head. She got Higgins a slice of raisin bread instead, quickly defusing the fight. But Bob accepts it: a wild animal will never be domesticated, he says.

…

“He shivered and I leaned over and said, ‘Come here, baby, are you cold?’ and he exploded,” Ms. Bowers says. “He started biting and screaming at me, biting any place he could touch. It was a nightmare. We tipped over furniture, I would have killed him if I could. But he was so strong. I tried to choke him to make him stop. We fought for I don’t know how long. I was trying to hold him so he couldn’t bite me. I took one of my big fabric books and held it on his throat.”

…

JUDIE HARRISON, 50 and three times married, is an extreme example of monkey love. She once demanded that her 15-year-old son give up his bedroom for a chimp, and today she is estranged from all three of her children because she put the primates first. Her passion also cost her her home.

Words fail. 

The doctor who sparked the scare over the safety of the MMR vaccine for children changed and misreported results in his research, creating the appearance of a possible link with autism, a Sunday Times investigation has found.

It remains to be seen whether this will mollify the conspiracy theorists.

(via Balk)

Q: Don’t you think most of us want to be loved for who we are, as opposed to some artificially enhanced version of ourselves?
A: That will never happen. Are you out of your mind?

Joan Rivers on the enhancement imperative.

With the new year comes opportunity for change in and, l hope, simplification of one’s life. Accordingly, I am eliminating the comments function from this blog. The simple truth is this: I have not gotten spam filter Akismet to work, but I have blacklisted all kinds of IP addresses as well as dozens of words and phrases (e.g., penile enlargement). Still the spam refuses to die and frankly I’m sick of it. In my view, life is too short to have to walk around with an electronic flyswatter 24/7, especially if you’re paying good money for bandwidth. So, at the risk of alienating one or two of you, henceforth Genomeboy will be comment-free. I hope you understand and I hope the blogging will be better for it. As always I would be happy to hear from you via my Duke address…I’m not hard to find.

Thanks for reading.

‘Tis the season for a re-gifting pandemic:

Recently, Nancy’s 11-year-old daughter, Chun, aided and abetted by Nancy’s partner, Chrissie Schlesinger, presented Nancy with a birthday present that seemed oddly familiar. They had spotted a carving that Nancy had just been given by one of her students in their Lower Manhattan loft, and they added it to their own pile of gifts for her. This incident would seem to suggest the primacy of the behavioral model in re-gifting. Close investigation, however, points to the possibility of a strong genetic factor as well, probably on the maternal side.

The Frieds’ father, the late Dr. Paul Fried, was a prosperous Philadelphia physician. He and his wife, Grace, had a four-story town house and a country house, and employed a maid. Yet one day when driving back to the city with her three young daughters, Mrs. Fried spotted some boxes on the side of the Pennsylvania Turnpike.

“She pulled over,” Nancy remembers, “and we’re tearing these boxes open. They were filled with stockings. We took them back to the house and spent days sorting thousands of stockings in every shade. What was funny is my mother grew up in a wealthy home, it wasn’t like she was somebody who was deprived, and the fact is we all could have been killed.”

I’m not sure why, but lately I’ve been thinking about organ transplantation. This 2006 article from living kidney donor and writer Virginia Postrel is a jaw-dropper:

Many hospitals and bioethicists seem to believe a demeaning set of assumptions:

• Normal people won’t give up an organ except under coercion.
• Anything that encourages a decision to donate is coercion.
• To avoid coercion, living donors should be discouraged.

Some transplant centers require intrusive psychological probes that scare people off. Some bioethicists treat benevolence or religious conviction as a mental disorder. Even relatively supportive transplant centers like mine make it easier to quit than to go through with it.

The scrutiny is particularly nasty when people want to give to “strangers”– not truly unknown people but patients they’ve gotten to know through Internet sites or news coverage. Many centers flatly refuse “directed donations” to specific strangers, forcing donors to lie about how they met recipients.

Ms. Darling, who was pregnant when her insurance ran out, worked at Archway for eight years, and her father, Franklin J. Phillips, worked there for 24 years.“When I heard that I was losing my insurance,” she said, “I was scared. I remember that the bill for my son’s delivery in 2005 was about $9,000, and I knew I would never be able to pay that by myself.”

So Ms. Darling asked her midwife to induce labor two days before her health insurance expired.

“I was determined that we were getting this baby out, and it was going to be paid for,” said Ms. Darling, who was interviewed at her home here as she cradled the infant in her arms.

As it turned out, the insurance company denied her claim, leaving Ms. Darling with more than $17,000 in medical bills.

But we wouldn’t want to rush into anything.

The prominent atheist is stepping down from his post at Oxford University to write a book aimed at youngsters in which he will warn them against believing in “anti-scientific” fairytales. Prof Hawkins said: “The book I write next year will be a children’s book on how to think about the world, science thinking contrasted with mythical thinking. “I haven’t read Harry Potter, I have read Pullman who is the other leading children’s author that one might mention and I love his books. I don’t know what to think about magic and fairy tales.”Prof Dawkins said he wanted to look at the effects of “bringing children up to believe in spells and wizards”.

“I think it is anti-scientific – whether that has a pernicious effect, I don’t know,” he told More4 News.

Hmmm…didn’t somebody once say that imagination is more important than knowledge?