The Clinical and Translational Research Center at The University of Texas Health Science Center at Dallas -- a federally funded "mini-hospital" where pioneering studies in human research are the norm -- is usually a quite place.

However, for a couple of months in late summer its sober halls range with the clatter of little feet and thousands of children's laughter. For the firm time, the Dallas CTRC -- one of 22 National Institutes of Health-sponsored top research units around the country -- had four children at once as its special guests. They were there because they have homozygous familial hypercholesterolemia (FH), a rare genetic disease that causes heart attacks in children or adolescents because of cholesterol buildup in the arteries.

Stormie Jones, who caught the attention of the nation in 1984 when she survived a dual heart and liver transplant to correct the ravages of FH, returned to the unit for complete metabolic workups to determine how her ongoing treatment was progressing under the direction of Dr. David Bilheimer, professor of internal medicine, and his associates.

Because Stormie is doing so well, says Dr. Ricardo Uauy, an associate professor of pediatrics affiliated with the Center for Human Nutrition, she had only a two-week stay in which to play hostess and role model to three younger patients. Joining Stormie in August were Georgina Elkhoury, 5, a pretty preschooler of Syrian descent who lives with her parents in Venezuela, and Ricardo and Joanna Garcia, 9 and 5 respectively, from San Antonio. Like Stormie, the new patients have no, or almost no, receptors that recognize a form of cholesterol known as low density lipoprotein (LDL) and remove it from the bloodstream.

In the early 1970s Drs. Joseph Goldstein and Michael Brown first unraveled the complicated genetics and biochemistry of this disease, which led to their being awarded the Nobel Prize for Medicine in 1985. Since that time, Drs. Bilheimer and Scott Grundy, director of the Center for Human Nutrition, have been working to further understand and treat the disease. This year the cholesterol researchers have been joined by Uauy, a pediatric nutrition specialist.

Uauy says that the health science center is being increasingly recognized as a referral center for patients with homozygous FH. So far all the new patients who have come in for long stays at once are Spanish-speaking. As a native of Chile, Uauy's language skills are needed.

Uauy is very excited about working with Georgina, who was referred to the CTRC by her New Orleans physicians. Georgina, he says, is the first patients the CTRC researchers have had the opportunity to work with who has not already suffered heart damage. Therefore, he believes that the little girl may have a chance of avoiding a transplant in the future if her LDL cholesterol levels can be maintained low enough.

Avoiding transplant surgery for her children is one of the major motivations of Yolanda Garcia, mother of Joanna and Ricardo. "I hope that some other treatment will be able to work so they will not have to have a transplant," she says. Xanthomas (wart-like deposits of cholesterol) that didn't go away but kept getting bigger alerted the mother that something was wrong. She took her children to a barrio clinic where the doctor referred them to a dermatologist. A biopsy of the "wart" revealed that it was a cholesterol deposit, and the Garcias were referred to the Dallas CTRC, one of the few places in the country doing this kind of research.

Currently the researcher are working with plasmapheresis as well as experimental drugs in treating the children. The goal of each kind of treatment is to remove cholesterol as possible from the blood. The idea of plasmapheresis is to separate the red cells from the plasma outside the body, discarding the patient's plasma and replacing it with a non-cholesterol-containing protein solution. Next, the patient's red cells and the cholesterol-free protein solutions are reintroduced into the patient's body. Another area of cholesterol research that Uauy and his associates want to pursue is the occurrence of hyperlipidemia with no apparent genetic cause.