UAB Researcher Answered Questions for Families of Children with Rare Diseases

September 30, 2013

BIRMINGHAM, Alabama – Few people outside his laboratory at the University of Alabama at Birmingham knew or understood what researcher Jerry Thompson did. Over the years, thousands of families across the country relied on Thompson to tell them what was wrong with their children.

If a child was suspected of having a genetic metabolism disease, such as Hurler syndrome, Hunter syndrome or San Filippo syndrome, doctors would send a specimen of blood, urine or cells to UAB for Thompson to examine. Hurler syndrome is a rare, inherited disease of faulty metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS.

Thompson was recruited to UAB in 1972 to start a genetic biochemical lab that could test for such diseases.

“That’s what Jerry Thompson devoted his career to – the detection of this disorder,” said Wayne Finley, a retired researcher who recruited Thompson as an assistant professor of biochemistry and pediatrics in the Laboratory of Medical Genetics. “He established a laboratory that had national recognition.”

In 1960, there were only about 1,000 genetic diseases identified; now there are about 23,000, Finley said.

In 1971, Finley was at an international research conference in Paris, asking about experts in the biochemical genetics field, which UAB hoped to get into. Someone handed him Thompson’s name.

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