A Heartbreaking Story About Genetics

As much as I love the science of genetics, none of it matters except for the people. Some people clearly have it worse than others.

In the Negev desert south of Israel bordering Gaza, Bedouins are suffering from genetic diseases at a higher rate than the average population because of their tradition of marrying first or second cousins.

Bedouins do not carry more genetic mutations than the general population. But because so many marry relatives — some 65 percent of Bedouin in Israel’s Negev marry first or second cousins — they have a significantly higher chance of marrying someone who carries the same mutations, increasing the odds they will have children with genetic diseases, researchers say. Hundreds have been born with such diseases among the Negev Bedouin in the last decade.

Over the past couple of years, researchers have identified eight genes not previously associated with disease as well as new mutations in other disease genes. Some of the diseases the Bedouins are currently experiencing:

• Aplasia cutis – babies are born with no skin on their skulls
• Neurological-spastic disease
• Blindness
• Severe mental retardation
• Congenital insensitivity to pain with anhidrosis

Breaks my heart to think of these young children and their families suffering. Generations of inbreeding based on tribal custom and no knowledge of genetic consequences has come to a head. What’s the solution?

Genetic testing is being offered although the Bedouins mistrust it and the politics of the Middle East is preventing medical science from being offered freely and easily. Some, however, are willing to take the risk in order to have healthy children. Perhaps this is the turning of the tide.

Further discussion at Gene Expression.
The New York Times, March 21, 2006