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Monica Coenraads’ daughter has never spoken since she blurted out “duck!” while taking a bath soon before her first birthday, and has never walked. Chelsea lost the ability to hold her sippy cup and stopped responding when Coenraads played “can you touch your nose?” She cannot use her hands, and must be fed through a tube, all of which is tragically standard for girls with severe Rett syndrome, a brain disorder that usually strikes during toddlerhood and is caused by a genetic mutation.

It may seem unlikely, then, that such a devastating condition is near the front of the line of brain disorders that scientists believe might one day be treated with genome editing technologies such as CRISPR. By “treated,” they don’t mean just keeping a disease from getting worse. They mean reversing the damage and giving the brain a second chance: CRISPR would penetrate the brain of a patient who has lived with a disorder for years and repair the mutation that caused it, unleashing the brain’s capacity of neuroplasticity to weave new circuitry, grow new neurons, or otherwise do right what it did wrong when the mutant gene called the shots.


This possibility, said Coenraads, executive director of the Rett Syndrome Research Trust, “gives every parent of a child with a neurodevelopmental disorder hope.”

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  • Humbly, where could I join a CRISPR outreach program linked to brain disease? Humbly, could STAT help sponsor summer 2018 US Nobel Prize seminars? Humbly, I would love to be invited.

  • Dear professor,

    Thank you for your review about XLID , the genetic origin of epileptic encephalopathies is currently being met more frequently after the progress in the whole exome sequence test . One of these Monogenic mutations is the iqsec2 mutation which accounts for nearly 10% of children referred to the genetic tests for intractable seizures; regarding that the technology in diagnosis is more or less recent, and children affected are usually misdiagnosed and managed as being on the autism spectrum disorder, many aspects of the pathology is still not sufficiently adressed leaving those children and their families suffering. It seems that gene therapy, although a kind of future possibility,is the greatest hope for these affected groups. My inquiry is about the future possibility of using the CRISPR technology to introduce a nonpathogenic copy of the gene and the how to establish a link between affected families and research institutions to fasten the progress in this field. 

    Kindly accept my best regards

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