What’s Tay-Sachs disease?
Tay-Sachs is a genetic disease caused by a missing enzyme. Cynthia Tifft, MD, PhD, director of NIH’s Pediatric Undiagnosed Diseases Program, describes who develops the disease and how it’s diagnosed in infants.
Transcript
CYNTHIA TIFFT: This is a disease where you're missing an enzyme called beta-hexosaminidase. [MUSIC PLAYING]
Most people will think of this as common in the Ashkenazi Jewish population. And before the early '70s, it was.
There were hundreds of babies born every year with infantile Tay-Sachs. Once the defect was found and a physician
named Mike Kaback began to do carrier screening in the Ashkenazi community, the incidence of Tay-Sachs disease in that community dropped by 90%
in 10 years. But all of us have a baseline carrier frequency in the general population, in any ethnic group.
So what we tend to see now are fewer cases, but they're in all different ethnic groups. Well, it presents in an infantile form,
a juvenile form, and an adult onset form. In the classic infantile form, it's the child who develops to about four months of age.
The mother comes to the pediatrician and says, you know, I just don't think he's really looking at me. The child gets sent to the ophthalmologist.
The ophthalmologist looks in the eyes and sees a characteristic trait called a cherry red spot, which indicates that there's been storage of fat sugar molecules
at the back of the eye. And the child indeed can't see. And that's sort of the key to the diagnosis. And it's essentially a death sentence.
These children usually are dead by two and a half to four, I'd say. However, as part of the Tay-Sachs Gene Therapy
Consortium, we have some very promising gene therapy treatment that we're hoping in the next year or so to be able to do, actually intracranial
gene therapy for these kids. [AUDIO LOGO]
genetic disorders birth defects
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