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Peering into Genetic Defects, CU Scientists Discover a New Metabolic Disease
Date:9/5/2013

“if you have some idea about how the system works, that is the beginning of providing more logical treatment.”

The next step, Shaikh adds, “is to determine how mutations in the gene lead to the symptoms seen in patients with cblX in hopes of better understanding the disease and – some day – being able to head it off or treat it.”

For Shaikh, the discovery has meant more than solving a genetic puzzle.
“Laboratory researchers like me don’t normally get to meet the people affected by their research. It’s been a privilege to meet the Watsons,” he says. “They are an amazing family.”

When Max’s sister Abbey – a star athlete -- visited the lab investigating her brother’s disease, Shaikh and his team embraced her curiosity and let her join the quest. Max’s mother and father, Deana and Steve Watson, grateful to Children’s hospital for the care Max received and to CU for leading the research, have done whatever was needed to support the project.

But it hasn’t been easy and the discovery doesn’t alter Max’s condition. Max needs full assistance in all aspects of daily care, including a specialized wheelchair and devices to help him stand and move to a bed. Unable to be in a classroom, he attends school via live internet – to the delight of classmates who talk with him on the screen and know his favorite color is yellow.

“We’re pretty realistic about all of this,” Deana says. “The whole reason we have from the beginning agreed to any sort of studies is that maybe some day, with Max’s findings, another family won’t be in this situation. We’re OK with that and proud Max is playing a part with that.”

Read the full story at http://www.prweb.com/releases/2013/9/prweb11094905.htm.


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