Monthly Archives: February 2012

John Lauerman on Science Friday tomorrow!

John Lauerman (a.k.a. PGP16) will be on Science Friday tomorrow talking about his experience with the Personal Genome Project!

Genetic Test Reveals Unexpected Data (Science Friday)

For those who don’t know what I’m talking about, I recommend you read my recent PGP blog post about it and his own article — it’s possibly the most interesting case we’ve had to date:

Unexpected scary findings: the tale of John Lauerman’s whole genome sequencing (Personal Genome Project Blog)

DNA Nanorobots!

Congrats to Shawn & Ido! How can you go wrong with robots. A different approach to “DNA computing” — I find this way cooler than logic-gated genes, but maybe that’s just me.

And congrats to George — see, I named all the authors right there. Three authors! THREE AUTHORS! The technology is sweet too but I don’t know how many stars have to align to get such a short author list in a Science/Nature biotech article these days.

A Logic-Gated Nanorobot for Targeted Transport of Molecular Payloads (Science)

We describe an autonomous DNA nanorobot capable of transporting molecular payloads to cells, sensing cell surface inputs for conditional, triggered activation, and reconfiguring its structure for payload delivery. The device can be loaded with a variety of materials in a highly organized fashion and is controlled by an aptamer-encoded logic gate, enabling it to respond to a wide array of cues. We implemented several different logical AND gates and demonstrate their efficacy in selective regulation of nanorobot function. As a proof of principle, nanorobots loaded with combinations of antibody fragments were used in two different types of cell-signaling stimulation in tissue culture. Our prototype could inspire new designs with different selectivities and biologically active payloads for cell-targeting tasks.

Personal Genome Project Blog

A little belated, but for anyone interesting in the Personal Genome Project and hasn’t already heard — we’ve created a blog! We’re hoping to post something at least once a week, although sometimes it’ll be a small update.

The blog’s name hasn’t been decided yet, the first post offers a vote on some ideas & suggestions in comments. Jason also posted an announcement of the GET conference, and I posted a slightly edited version of my X-carrier status analysis.

Personal Genome Project Blog

Cystic Fibrosis treatment — sometimes the specific variant matters

Great news for cystic fibrosis research! And also an interesting demonstration of how two different variants causing the same disease can end up having different clinical consquences.

Drug bests cystic-fibrosis mutation (Nature News)

In GET-Evidence (our genome/variant review system) we currently score each variant’s clinical effect individually. This tends to cause a lot of redundant labor — most of these scores (severity, treatability, and penetrance) are the same for all variants causing that disease. As we expand the system, one suggestion has been to add disease pages and have all variants refer to those pages for clinical importance scores. Generally this sounds like a good idea.

This case is an exception that shows how variant-level information will still be important. In this case CFTR-G551D is found to respond much more effectively to this treatment than CFTR-F508Del. (The latter is the one causing disease in most patients, unfortunately.) This means CFTR-G551D would score more highly on “treatability” than CFTR-F508Del. Even though both cause the same serious disease, the treatability of that disease depends on the particular genetic variant.