UCSF doctors help successfully treat rare, deadly genetic disease in utero for first time

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UCSF doctors help successfully treat rare, deadly genetic disease in utero for first time
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UCSF scientists help successfully treat rare, deadly genetic disease in utero for first time

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It’s an inherited and usually fatal disorder that ended the lives of two of her sisters. Ayla, however, is not only surviving, she is also thriving, according to her family and doctors, detailed in adescribing her case as the world’s first in-utero treatment for the disease. Zahid and Sobia were initially unaware they were both carriers of the genes for this disease. They have also two unaffected children, ages 13 and 5.

Studies in mice had shown that early treatment worked, with the suggestion the replacement enzyme could better cross the blood-brain barrier, improving the development of the neurological system in utero. She’s now a busy toddler, walking and climbing and getting into cabinets and cupboards, “which is fantastic,” her parents say with a smile.

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