Creative Minds: Interpreting Your Genome

Artist's rendering of a doctor with a patient and a strand of DNA

Credit: Jane Ades, National Human Genome Research Institute, NIH

Just this year, we’ve reached the point where we can sequence an entire human genome for less than $1,000. That’s great news—and rather astounding, since the first human genome sequence (finished in 2003) cost an estimated $400,000,000!  Does that mean we’ll be able to use each person’s unique genetic blueprint to guide his or her health care from cradle to grave?  Maybe eventually, but it’s not quite as simple as it sounds.

Before we can use your genome to develop more personalized strategies for detecting, treating, and preventing disease, we need to be able to interpret the many variations that make your genome distinct from everybody else’s. While most of these variations are neither bad nor good, some raise the risk of particular diseases, and others serve to lower the risk. How do we figure out which is which?

Jay Shendure, an associate professor at the University of Washington in Seattle, has an audacious plan to figure this out, which is why he is among the 2013 recipients of the NIH Director’s Pioneer Award.

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Forbes 30 Under 30 Highlights NIH Stars

Wow! Seeing this new Forbes list just made my day! It’s inspiring to glimpse the up and coming young minds who will be shaping tomorrow’s science. But what makes me particularly proud is that four of them—Mitchell Guttman, Gregory Sonnenberg, Adam de la Zerda, and Daniela Witten— are recent recipients of the NIH Director’s Early Independence Award—a “skip the postdoc” grant that allows young minds to unleash their creativity, talent, independence, and drive.

Photos of the four Early Indepence Award winners: Mitchell Guttman, Gregory Sonnenberg, Adam de la Zerda, and Daniela Witten

Here’s a quick taste of just what makes these grantees so noteworthy. Guttman, an assistant professor at Caltech, is studying a new type of gene that regulates embryonic development. Gregory Sonnenburg, an immunologist at University of Pennsylvania, studies the role of beneficial bacteria in the gut and why the immune system sometimes turns against these friends. Daniela Witten, assistant professor at the University of Washington, is creating machine learning programs that massage vast amounts of data into useful and actionable knowledge—one example is personalized cancer therapy. Adam de la Zerda, assistant professor at Stanford, is using nanotechnology to understand cancer and age-related macular degeneration.

Another exceptional advocate for medical research tops the Forbes’ list of 30 under 30. Josh Sommer, a young man who was diagnosed with a rare cancer called chordoma when he was 18, is someone I have had the pleasure of encouraging and mentoring. Josh now runs the Chordoma Foundation that has raised $2.5 million and supports research in 11 labs.

All of these young scientists are amazing, and I look forward to seeing all the wonderful innovative work they do.

With a healthy dose of tongue in cheek, I’m happy to announce that the AARP just chose me as one of the “50 over 50” influential leaders—so I guess there’s also hope at the other end of the spectrum.

Happy holidays, everyone!