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Henry Engel, victim of Rett Syndrome,
donates his cells to create a legacy in
innovative research for a cure.
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Henry Engel was found to have a unique mutation attributed to his
development of Rett syndrome. The symptoms of Rett syndrome
involve severe impairments, affecting nearly every aspect of the
child’s life: their ability to speak, walk, eat, and even breathe
easily.
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MECP2 is found on the X chromosome, which females have two of,
so it’s even rarer and more severe in males because they only have
one X chromosome.
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Henry’s mutation affected the function of the MECP2 gene in such a
way that it caused an important protein for brain development to
be produced at lower levels.
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Henry’s physician, Dr. Huda Zoghbi, states: “Our Rett syndrome research
will continue to push as hard as possible to develop treatments. This is
how we will honor Henry’s life. Studying [Henry’s] cells helped us to think a
little differently, to find yet one more approach for developing therapies for
Rett,” she said. “If we’re successful, that can help so many patients. That
would be a dream. That would be [Henry’s] legacy.”
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