By Don C. Reed

Imagine you are an infant, and your Mom or Dad is trying to bottle-feed you. The nipple is placed between your lips — now what happens? You suck and swallow, right?

But sucking (into the mouth) and swallowing (gulping it down) are two separate activities — which must be done correctly, and in the right sequence. The inability to do both in a coordinated fashion is one of the symptoms of Angelman’s Syndrome (1). Until that skill is learned, the child must be given a special high calory formula, so he/she can get maximum benefit of what does go down.

Named after its discoverer, Harry Angelman, Angelman’s Syndrome (AS) is a rare (1 in 15,000 births) nerve disease “in which children have many physical and cognitive deficiencies, including lack of speech, difficulty or inability to walk, sleep disorders and seizures.” (2)

Angelman’s is a vicious condition, stealing many of a child’s physical and cognitive abilities. It “…has no approved treatment.”(3)

The disease appears to be caused by the inactivity of one protein, part of the genetic makeup of the brain. Inserting a second protein may activate the first, and possibly correct the condition.

But how might that “trigger” protein be installed? An AAV9-Cas13 gene therapy can deliver a targetable RNA nuclease to the brain can perhaps and manufacture more of the needed material.

How important might such neurological research be?

“Globally, in 2016, neurological disorders were the leading cause of DALYs (276 million) and second leading cause of deaths: 9·0 million.” (4) — DALY means: disability-adjusted life-years)

It may well be that therapeutic advances developed for Angelman’s may apply to other conditions as well.

The project has been successful on mice, but further tests are needed for safety and efficacy on humans.

All chronic diseases must be fought — but those which make children suffer? They should be attacked with a vengeance!

Here is Dr. David Segal, one of the CIRM-funded scientists whose work is referenced in this piece: “It is only in the past few years that we have the tools to treat the underlying causes of genetic disease. Now that we can, we are grateful to CIRM for the opportunity to use these cutting-edge tools to create a therapy for Angelman syndrome.” (5)





5. — David Segal, personal communication.

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