genomeboy.com

I put down Rebecca Skloot’s first book, “The Immortal Life of Henrietta Lacks,” more than once. Ten times, probably. Once to poke the fire. Once to silence a pinging BlackBerry. And eight times to chase my wife and assorted visitors around the house, to tell them I was holding one of the most graceful and moving nonfiction books I’ve read in a very long time.

Hear hear! Listen to her on Fresh Air. Go see Rebecca. Buy the book. Give to the foundation. Get the action figure. Read the book!

As he strikes out on his own at Duke, Ge is interested in developing software packages to detect these genetic contributions to human diseases. When looking through sequencing data, he says there are a lot of questions to answer for each SNP: does it cause a premature stop? A frame shift? Does it disrupt the normal gene function? “Now, to answer that question may not be so difficult when you look at them individually, just browsing NCBI Genome Browser or [another] genome browser, but it is if you look at millions,” Ge says. He developed a package called the Sequence Variant Analyzer that allows users to annotate variations uncovered through whole genome sequencing and compare them to control genomes.

Dongliang is one of many who have helped me begin to navigate my own genome. People like him and the developers of Trait-o-matic are pushing enormous rocks up steep hills so our children won’t have to.

Jason Bobe, DIYBio co-founder and Personal Genome Project Director of Community, on NPR:

RAZ: And so, are most of the people who are sort of these citizen scientists, I mean, are they actual scientists, or are they amateurs?

Mr. BOBE: It’s actually a wide range of different types of people. There are quite a few graduate students and professional scientists who moonlight as a citizen scientist. And we’re actually starting to see groups in various cities setting up laboratory space that’s a shared laboratory. They sort of pull their resources like clay potters have done with kilns or woodworkers have done with expensive lathes.

Listen to all of it here.

Mazel tov to the chromosome-centric Nobelists:

Greider, 48, said she was telephoned by just before 5 a.m. her time with the news that she had won.

”It’s really very thrilling, it’s something you can’t expect,” she told The Associated Press by telephone.

People might make predictions of who might win, but one never expects it, she said, adding that ”It’s like the Monty Python sketch, ‘Nobody expects the Spanish Inquisition!”’

23andMe co-founder Linda Avey is leaving for the nonprofit world:

I’ve decided that I’d like to focus my efforts on an area that is personally significant and will continue to have a huge impact on our healthcare system–Alzheimer’s disease. Effective today, I’m leaving 23andMe and have begun making plans for the creation of a foundation dedicated to the study of this disorder. The foundation will leverage the research platform we’ve built at 23andMe–the goal is to drive the formation of the world’s largest community of individuals with a family history of Alzheimer’s, empower them with their genetic information and track their brain health using state-of-the-art tools. We’ve always planned to include Alzheimer’s in our 23andWe research mission…I’m just approaching it from a new angle.

Some of you might be aware that my father-in-law suffered from Alzheimer’s and passed away last year. For this reason, Randy and I are motivated to do what we can to improve the understanding of what leads to the debilitating symptoms and what might prevent them from starting in the first place. The ApoE4 association is barely understood but gives us a great starting point.

More details here. Speaking personally, even when we’ve disagreed, for as long as I’ve known her, Linda has been nothing but gracious to me and incredibly generous with her time. I wish her the best and have every expectation she will succeed at whatever she puts her mind to.

As usual, I am pathetically late on this (just throw me the odd crumb, once in a while, dude). A couple of months ago the attorneys at Charlotte-based Robinson, Bradshaw & Hinson, P.A. launched the Genomics Law Report:

The Genomics Law Report focuses on the legal implications of important developments in the fields of genomics and personalized medicine — including key litigation, legislative, regulatory and policymaking activities — in order to facilitate understanding of the complicated and shifting legal landscape governing genomic and personalized medicine commerce and research.

RBH has provided legal services to the Personal Genome Project and one of its attorneys, Dan Vorhaus, helped articulate the PGP’s initial vision for open consent.

My older brother, with whom I share 50% of my DNA*, gets his book pimped in today’s New York Times:

I’ve been reading a truly excellent book by Joshua Angrist and Jorn-Steffen Pischke called Mostly Harmless Econometrics: An Empiricist’s Companion. It’s not written for a general audience, but if you pulled an A- or better on a college-level econometrics course (and if you love Freakonomics), then this is the book for you.

It makes a swell gift, too.

*as far as I know anyway…oh Mom, you little minx

Above all, don’t fear difficult moments. The best comes from them.

- Nobel Laureate Rita Levi Montalcini, on the occasion of her 100th birthday

“Vegas Solves Health Care Crisis!”

NEW YORK (GenomeWeb News) – A little less than a week after its passage by the US Senate, the Genetic Information Nondiscrimination Act has been passed by the US House of Representatives by a vote of 414 to 1.The bill is the closest it has ever come to being signed into law after being considered in various iterations by both chambers of Congress over the past decade. GINA, which would protect Americans from discrimination based on information from genetic tests, had previously passed in the House twice before — most recently last year, when the vote was 420 to 3 in favor of its passage.

And by the way, we’ll miss you Ron Paul, you ornery cuss.