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Brown and Goldstein: Beyond the Prize

By B.B. |

It’s hard to top a Nobel Prize for Medicine. But the biggest prize of all to arise out of Drs. Michael Brown and Joseph Goldstein’s laurel-land ing lipoprotein research may be this: hope for children like Stormie Jones, one of four children known to suffer from the rare blood disease called homozy-gous familial hypercholester-olemia. Goldstein and Brown first unraveled the complicated genetics and biochemistry of this disease, for which they won the Nobel. Now all four children are coming to The University of Texas Health Science Center-one from as far away as Venezuela-for treatment.

In simple terms, these children don’t produce receptors to remove dangerous, heart-clogging low-density lipoproteins from their blood. Thai’s why Stormie became the recipient of the first successful tandem liver and heart transplant in 1984. The transplant by Pittsburgh surgeon Dr. Thomas Starzl was a last-ditch effort to save Stor-mie’s life, and so far it’s worked. She’s been coming back to the UTHSCD for the past couple of years for progress checks under the care of Dr. David Bil-heimer. who is using drugs to stimulate the single normal gene to make more receptors. While final results of the drugs aren’t in, Stormie seemed to be doing well in November.

It is because of the success of Stormie’s treatment that the three other children have joined her this autumn for treatment- Georgina Elkhoury, five, a preschooler of Syrian descent who lives with her parents in Venezuela, and the Garcia children, Ricardo. nine, and Joanna, five, from San Antonio.

Stormie, nine, has been a sort of “little mother” figure, helping younger Georgina with her English. For treatment of these three children, doctors are using a combination of diet and a process called plasmapheresis. In plasmapheresis, blood is I taken from the body, and the plasma containing the LDL cholesterol is separated, discarded, and replaced with a non-cholesterol protein solution.

Thanks to the research of Brown and Goldstein and others, there’s hope that these three children will never have to undergo the same radical and dangerous procedures Stormie Jones did.

And that would be a nobleprize indeed.

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