ST. LOUIS - When Mary Kaye Richter's son was diagnosed, she could only find a few paragraphs about hypohidrotic ectodermal dysplasia, which inhibits the growth of teeth, hair and sweat glands. To learn more, she converted a storage room of a church in Mascoutah, Ill., into the headquarters for a foundation that she established.
Now 33 years later, Richter's life's work came full circle when she got the chance to meet month-old baby Andrew with the same genetic disorder. His family flew to St. Louis from Michigan last month to test a therapy that could be a cure.
Richter, 69, gave thanks for the thousands of parents across the world - joined by the foundation - who raised funds for research and provided information and testing subjects for scientists. She gave thanks for Andrew's parents, Robert and Sarah Yaroch, whose baby is just the third in the world to test the protein therapy. If it works, the therapy would be first to permanently correct the effects of a genetic mutation.
Richter founded the National Foundation for Ectodermal Dysplasis in 1981. Families provided blood samples to Dr. Jonathan Zonana, an Oregon Health and Science University researcher who was able to locate the gene associated with the disorder. They held walks, barbecues and mass mailings to raise funds for Zonana to continue his research, which helped him win large government grants over the next 12 years.
In 1996, Zonona and a team of national researchers, including two at Washington University, identified the gene mutations causing the condition, giving scientists a target for treatment. These genes tell the body to make proteins that are needed early in life for the normal development of sweat glands, teeth, hair, skin and other mucous glands which protect against respiratory illnesses and overheating.
Funding from the foundation also helped scientists in Pennsylvania and Switzerland develop a synthetic replacement protein, test it in dogs and mice and study the disease more in humans. Richter worked closely with all the researchers along the way, even seeing the tested dogs get their full set of teeth.
A setback came in 2007, when the company making the synthetic protein was bought out. Research languished for two years.
Two researchers involved in testing the synthetic protein searched for two years for an investor. The promising animal studies caught the attention of Third Rock Ventures, a health care investment firm.
The firm was interested in funding possible treatments for rare diseases, which are often neglected, explained Neil Kirby, who reviewed proposals for Third Rock. The possible therapy for hypohidrotic ectodermal dysplasia was also different than other treatments for genetic disorders, where missing proteins must be replaced continually.
"This particular disease really rose to the top of the pile," Kirby said. "It looked from the animal data that you could administer this missing protein for a very short period of time during human development and actually correct that disease without having to give drugs for the rest of the patient's life. No one has ever done that before."