FIRST TWO HUMANS TO RECEIVEREPLACEMENT GENES CELEBRATE AT MEDICALSYMPOSIUM
By David N. LeffScience Editor
More than 100 clinical and research physicians, plus twosmall girls, gathered in Cleveland last Friday to mark thefifth anniversary of the first approved human genetherapy protocol ever conducted.
On Sept. 15, 1990, at the National Cancer Institute inBethesda, Md., Ashanthi DeSilva, then four years old,received an infusion of adenosine deaminase (ADA)genes to correct her severe combined immune deficiencydisease. About four months later, Cynthia Cutshall, thennine, started the same gene replacement treatment.
Both girls, now nine and 14, were in attendance in thehospital amphitheater of Case Western University aspatients of honor at the celebratory Grand Rounds. Sowere the three pioneer gene therapists who designed andadministered the treatments, W. French Anderson,Michael Blaese and Kenneth Culver.
So was immunologist Melvin Berger, who teachespediatrics at Case Western, and who referred DeSilva andCutshall for the untried therapy.
"Both girls are now off gene therapy for the past twoyears," Berger told BioWorld Today. Both receive routinePEG-ADA enzyme supplements, he said, adding,"There's a readily detectable effect of the gene therapy inAshanthi [DeSilva]. Even without gene therapy in twoyears, her cells have about half the level of ADA as herfather, who's clinically perfectly normal. Cynthia[Cutshall] is not quite so high, but is detectable.
"Clinically," Berger observed, "both girls continue to bealmost indistinguishable from normal kids."
Berger addressed the medical symposium on "Recentadvances in understanding immune deficiencies at amolecular level."
"With the mapping of the genome," he told the audience,"and the improved definition of mapping genes onto theirchromosomes, as part of the genome project, andadvances in cell biology, there are very rapid advances inidentifying the genes for immune deficiencies whosegenetic causes were previously unknown.
"That in turn," he pointed out "allows understanding ofthe various manifestations of these diseases. Besides theimmune deficiencies themselves, it allows fullerunderstanding of the range of clinical abnormalities seenin these patients.
"The other important thing," Berger concluded, "is ofcourse that it allows for gene therapy at some point in thefuture."
Among the dozen scientific speakers who addressed theconference theme of "Gene therapy for immunedeficiencies and cancer" were the original triumvirate ofAnderson, Blaese and Culver. n
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