DNA and the Randomness of Genetic Problems

[Buster's Uncle]

DNA and the Randomness of Genetic Problems
The miraculously intricate process that transforms a few strands of DNA into a living creature is the product of blind biological forces. It can go wrong
The Wall Street Journal
By Alison Gopnik  Nov. 25, 2014 12:43 p.m. ET



A child living with CMN syndrome. The most notable symptom of CMN is a giant mole, but it can also affect a child’s brain.  Rick Guidotti for Positive Exposure 



Last Thanksgiving, I wrote about my profound gratitude for the natural, everyday, biological miracle of my newborn granddaughter. Georgiana just celebrated her first birthday, and this year I have new, and rather different, miracles to be thankful for.

The miraculously intricate process that transforms a few strands of DNA into a living creature is the product of blind biological forces. It can go wrong.

Georgie is a bright, pretty, exceptionally sweet baby. But a small random mutation in one of her genes means that she has a rare condition called Congenital Melanocytic Nevus, or CMN.

The most notable symptom of CMN is a giant mole, or “nevus,” along with many smaller moles. Georgie’s nevus covers much of her back. But CMN can also affect a child’s brain. And though everything about CMN is uncertain, it leads to something like a 2% to 5% risk for potentially fatal skin cancers. (The thought of a baby with melanoma should be confirmation enough that the universe is indifferent to human concerns.)

We are lucky so far. Georgie’s brain is just fine, and the nevus is in a relatively inconspicuous place. But somehow it doesn’t seem right to say that we are thankful for one set of blind chances when other babies are condemned by another set.

But here’s a miracle I am thankful for. Those blind, arbitrary, natural processes have created human beings who are not blind or arbitrary. Those human beings really do have reasons and designs, and, by their very nature, they can defy nature itself—including a condition like CMN.

Humans created science—we have the ability to understand the natural world and so to transform it. It is hard to get funding for research on rare diseases like CMN. But several scientists across the globe are still trying to figure out what’s wrong and how to fix it.

For example, in London, Veronica Kinsler at Great Ormond Street Hospital has taken advantage of the amazing scientific advances in genomics to pinpoint precisely which mutations cause CMN. Now that scientists know just which gene changes cause CMN, they have started to design ways to fix the damage. And those discoveries might help us to understand and treat skin cancer, too.

Human beings can not only transform nature, we can transform ourselves. Even a few years ago, someone with CMN could feel isolated and stigmatized. Thanks to the Internet, children with CMN, and the people who love them, have been able to find each other and form support groups: Nevus Outreach in the U.S. and Caring Matters Now in the U.K. Together, they have been able to raise money for research.

The support groups have done something else, too. It may be human nature to feel disturbed, at first, at the sight of a baby with a giant mole. But human beings can change the way that they think and feel, and there’s been a quiet social revolution in our feelings about disability and difference. Rick Guidotti, a successful fashion photographer, has taken on the mission of photographing individuals with genetic differences at Positiveexposure.org, including lovely photographs of people with CMN.

Of course, all grandmothers think that their grandchildren are uniquely beautiful, no matter what. So do Georgie’s parents and grandfathers and uncles and aunts and all the people who care for her. What could be more precious than Georgie’s wispy blond hair, the cleft in her chin, her charming laugh, her thoughtful look?

This might seem like an evolutionary illusion, just a way for our genes to get us to spread them. But I think instead that these perceptions of love point to a more profound truth. Ultimately, each of the six billion of us on the planet, each with our unique genetic makeup and irreducibly individual history, really is just that irreplaceable and valuable—and vulnerable, too.

This Thanksgiving I’m full of the deepest gratitude to the scientists and the support groups—but I’m most grateful of all to little Georgiana, who reminds me of that profound truth every day.


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