genomeboy.com

This is 17 kinds of awesome:

Scientists are to map Ozzy Osbourne’s genetic code in a bid to find out how he is still alive after decades of drug and alcohol abuse.

(hat tip)

UPDATE: “Throw some fag ash on his cornflakes.”

(hat tip #2)

On April 24th and 25th in Cambridge, MA, the Boston Open Source Science Lab will be amplifying and sequencing genes for anyone with 40 bucks.

Together, we’ll use the polymerase chain reaction (PCR) to amplify a fragment of one of your genes and have the DNA sequenced. The event will be part of the Cambridge Science Festival and will run from 12 - 4 pm on April 24th and 25th.

We’re doing it at the bosslab, located at 339R Summer St, Somerville, MA 02144, at Sprout. The cost of materials is $40 / person.

I will provide primers that will enable us to amplify sections of several popular genes. If you have a particular gene of interest, please get in touch…

That sound you hear is hundreds of clinical geneticists’ panties getting in a wad. And maybe a few IP lawyers, too…

See you there, you DIY rascals you!

The Lancet has retracted a 1998 paper linking the Mumps-Measles-Rubella vaccine to autism. The journal’s editor spoke to On the Media this week.

I have to start watching more TV.

The physicians and hospital leaders from Cedar Rapids told us how they have adopted electronic systems to improve communication among physicians and quality of care. Last year, they decided to investigate the overuse of CAT scans. They examined the data and found that in just one year 52,000 scans were done in a community of 300,000 people. A large portion of them were almost certainly unnecessary, not to mention possibly harmful, as CAT scans have about 1,000 times as much radiation exposure as a chest X-ray.“I was embarrassed for us,” said Jim Levett, a cardiac surgeon and the head of a large physician group. More important, the area’s doctors and clinics are turning that embarrassment into change by seeking out solutions to reduce the expense and harm of unnecessary scans.

That number of scans in Cedar Rapids may seem shocking, but there is nothing surprising about it. Nationwide, we do 62 million CAT scans a year for 300 million people. So Cedar Rapids’s rate was actually better than average. But all medicine is local. And until a community confronts what goes on in its own population — to the point of actually seeking the data and engaging those who can solve the problem — nothing will change.

Many people feel that it is a more elevated act to donate anonymously: not to pick a recipient, in other words, but simply to show up at a hospital and offer one’s kidney, leaving it to the transplant center to assign it to the next person on the list. Sometimes the recipients in these transactions choose not to meet their donors; sometimes they don’t even send a note to say thank you. For a donor to pick a recipient through a service like MatchingDonors can seem, from this perspective, like egotism—playing God by choosing who will live, and encouraging gratefulness by arranging for a relationship with the recipient. But, in a certain literal sense, a nondirected donation is not altruistic in a way that picking a recipient is, because there is no other there. There is no human story, just a principle; the only thing visible to the donor is his own shining deed.

Larissa MacFarquahar on kidney donation in the New Yorker (registration required). Wow. Best nonfiction I’ve read this year.

For those interested in family history, the NIH is holding a conference in August:

The purpose of this state-of-the-science conference, open to anyone, is to develop a consensus statement that advances the issue of family history by assessing the available scientific evidence on:

• The key elements of a family history in a primary care setting for the purposes of risk assessment for common diseases
• The accuracy of family history, and under what conditions the accuracy varies
• The direct evidence that getting a family history will improve health outcomes for the patient and/or family
• Factors that encourage or discourage obtaining and using a family history
• Future research directions for assessing the value of family history for common diseases in the primary care setting

The details:

• Attend in person August 24-26, 2009 in Bethesda, MD  
• Or register to watch the live Webcast if you can’t travel to attend in person

Does family history really need a conference to generate consensus statements and “advance” the issue? I’m not sure. But I applaud the organizers for (presumably) holding family history to the same evidence-based criteria they so often demand of direct-to-consumer genetic testing.

(Thanks to Erica Holt for the tip)

Nothing like a little primum non nocere when a guy is dying of Lou Gehrig’s disease:

As Joy helped Joshua with his mounting physical needs and cared for their son, Wyatt, who had been born two weeks after Joshua’s diagnosis, the couple pressed Kathy to explore Joshua’s medical options.

They decided he should try what seemed like the next best thing to Iplex — the drug that had triumphed over it in the patent dispute. But the first neurologist they visited refused to give him a prescription.

“This could cause hypoglycemia,” he told Joshua, warning that low blood sugar could result in seizures or brain damage.

“I’ll take my chances of hypoglycemia over laying in the gutter,” Joshua replied fiercely, but the doctor did not relent.

And it gets worse:

The F.D.A. had a month to respond from the date it received Joshua’s application on Dec. 16. When Joshua asked about Iplex now, Kathy told him, “It should be any day.”

On Jan. 16, when Dr. Werwath called to tell her the application had been rejected, she stood up in disbelief.

“How could that be?” she asked, dazed.

Kathy’s friend Mrs. Reimers had received a call with the same news.

“He said they had safety concerns,” Mrs. Reimers said. “This for a drug that was approved for children!”

“Safety,” Kathy repeated. “And what, exactly, is safe about A.L.S.?”

Fantastic article in the Boston Globe about former George Church-student Katherine Aull, who has set up a lab in her apartment and is testing herself for hemochromatosis mutations.

(Hat tip: GenomeWeb)

I’m not sure what to make of this, but someone emailed last night and said, “…I’m guessing that I’m probably the first person to ever tweet your DNA.”

You are correct, sir!

And since you’ve obviously read my profile, maybe you could send me a business card just in case.