Image: Photograph by Erika Larson
In Brief
- Who: William A. Gahl
- What He Does: Tries to deduce the causes of diseases that elude diagnosis by other physicians
- Where: National Institutes of Health’s Undiagnosed Diseases Program
- Research Focus: Connects genetics with pathology to understand mysterious illnesses
- Big Picture: Uses the most advanced medical technologies but is philosophical about the limits of what the healing arts can accomplish.
More In This Article
The patient had endured 20 years of pain: her calves had turned into two bricks, and she now had trouble walking. A slew of doctors had failed to treat, let alone diagnose, her unusual condition. So when her x-rays finally landed on William A. Gahl’s desk at the National Institutes of Health, he knew immediately that he had to take her case.
Gahl is the scientist and physician who leads the Undiagnosed Diseases Program, which tries to unravel the underlying causes of, and find therapies for, mysterious maladies and known but rare conditions. Louise Benge’s x-rays had revealed that blood vessels in her legs and feet bore a thick coat of calcium that restricted blood flow. Benge’s sister, Paula Allen, along with several other members of the family, also shared the disorder. Over the course of several months Gahl identified the genetic root of the disorder—a mutation in a gene that regulates calcium—and he went on to propose a treatment with drugs already on the market. He continues to assess the treatment’s value.
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3 Comments
Add Commentquote: Big Picture: Uses the most advanced medical technologies but is philosophical about the limits of what the healing arts can accomplish.
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The Dr. Must see some devestating illnesses. I often wonder though, which genetic mutations will lead our species to new levels of evolution? Is illness always a bad thing when you view it from and evolutionary level. I am stepping out into the region of philosophy here. Is there a greater purpose or meaning to experiencing illness as human beings? I am especially interested in why humans experience depression. Thanks to whoever reads this. Bonnie
Reply | Report Abuse | Link to thisHi Bonnie, I find your questions to be depressing, depressing because you sound so sincere and deserve a short simple answer. Sorry not to have one but if you google
Reply | Report Abuse | Link to thisbruce voigt crop circles and struggle through this blog you may find your own answers.
I believe that severe depression is caused by the gut not the brain. (dump the medication, change the diet and purchase a motor cycle hmmmmmm