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articles and announcements

Categories: Crispr/Cas9

February 9, 2023

Contribution of hemizygous HERC2 deletion to Angelman syndrome pathophysiology

$200,000 2 years Individuals with a deletion of chromosome 15q11-q13 suffer from Angelman syndrome (AS), a neurogenetic developmental disorder characterized by intellectual disability, motor ataxia, absent speech, and seizures. The specific gene that is responsible for AS encodes the ubiquitin […]

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Dr. Mark Zylka
December 14, 2019

Finding new ways of Unsilencing Ube3a with CRISPR/Cas9

$200,000 Based on previous research conducted at Dr. Mark Zylka’s lab and Dr. Ben Philpot’s lab, Dr. Zylka’s team will continue this work with the goal of unsilencing the paternal copy of Ube3a using new methods. Past research has shown […]

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December 14, 2019

Understanding how Angelman Syndrome Neurons Perform in the Brain

$200,000 Imagine a traffic light at a busy intersection: when working correctly, the traffic light directs vehicles where they need to go and traffic flows properly. In the brain, the “traffic lights” control the signaling at synapses, which are the […]

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Dr. Mark Zylka
December 14, 2019

Validation of therapeutic guide RNAs targeting the UBE3A antisense transcript

Summary of Dr. Zylka Study Dr. Zylka’s lab and others have been exploring the possibility that symptoms associated with Angelman syndrome (AS) can be treated by unsilencing the paternal copy of Ube3a. Dr. Zylka’s lab recently found that paternal Ube3a […]

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