Friday, July 3, 2009

old families never die

The thing about a genetics lab is, you're never "done" with a family. If you find a mutation, you follow it through the generations and the far-flung third cousins. If you don't, you retest that family every time a new gene comes up that might be involved somewhere somehow in the pathology that led the family to you in the first place.
For these new genes, it's often important to know 'Yes, we looked for it. No, you don't have it.' Most of those results just stay in the family file. No need to be calling them in each time some negative result comes up.
More rarely, the result is 'Hey, there's this new gene out that we thought might be relevant, and it turns out...' Those are the ones that keep you interested as a scientist. There are families we've studied for ten years before hitting on the right gene.
Just recently, there was an unusual mutation in one of the major genes we study found in the Portugese, a mutation that could be missed by our standard techniques. So we developed a specific test for it, and then it was time to make the rounds of every case we had ever studied for that gene and gotten a negative result. Not just our patients of Portugese origin, but everyone. You never can be sure what happened generations ago. They're a traveling people, the Portugese.
1063 'yes we looked, no you don't have its' later, I'm finally done writing reports! I've been writing reports on DNAs we received twenty years ago. Reports for people who are now surely gone, but whose families are still concerned.
And yes, there was one positive result. One family for which we could finally figure out who's really at risk of breast cancer and whose risk is low. Yea!


GingerV said...

how very rich and interesting your life and your work. much better than my work of profit and loss - like who cares.... to give back, to continuously try to understand and learn, now this is a worthwhile pursuit.

Barry said...

Sounds like an immense amount of work, but for that one family it could be a life saver.

Thank god your doing this.

sciencegirl said...

Hi Barry, great to hear from you! I think of you daily, and hope your treatment is going alright.

The project wasn't all that hard. An intern got through about 700 cases as part of a collaboration that will be published (we started with a question - is this mutation limited to the portugese, or is it found in nearby countries too?). Then it took an experienced tech about a week to finish (which was mostly rounding up the DNAs).

Si's blog said...


Love my Scientific American. In the middle of an article about silent mutations (http://www.scientificamerican.com/article.cfm?id=the-price-of-silent-mutations). Methylation and now this. It just gets more and more complicated.

CrazyCris said...

This reminds me why I found Genetics so fascinating in Uni! Pity a lousy prof in my 3rd year Genetic Engineering course made me veer away from it... fortunately I was equally enamoured of Marine Biology so it turned out ok.

Plopping in via Extranjera's blog (Whatever will I do with my life?). Your Blogger name intrigued me so I decided to clicked on it and feed my curiosity. Hope you don't mind if I hang around for a bit? I love reading about people's travels, gives me ideas for places to visit (a list already so long I'd need 3 lifetimes!) and if there's a smidgeon of Science here and there, even better!