​​The 6th Annual PACS1 Syndrome Scientific Conference
September 2024
PACS1 Foundation Funded Research Project Highlights
Institution: UT Southwestern Medical Center
Principal Investigator: Evan Nair-Gill, M.D., Ph.D.
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Project: Exploring the Structural Biology of the PACS1 – WDR37 Connection
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Dr. Evan Nair-Gill and his team at UT Southwestern Medical Center are at the forefront of structural biology research on PACS1 Syndrome. They have made progress in identifying the 3D structure of the PACS1-WDR37 Protein. This structure is vital for understanding the mechanism of action of the mutant PACS1 protein. The foundation previously committed to making a significant 3-year investment in Dr. Nair-Gill’s lab which has been renewed for Year 3.
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Institution: The Jackson Laboratory
Principal Investigator: Steve Murray, Ph.D.
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Project: ​Advancing Gene Editing for PACS1 Syndrome
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Our collaboration with The Jackson Laboratory (JAX) on gene editing is progressing as we explore the exciting field of base editing using CRISPR/Cas9 technology. Recognized as the 'Breakthrough of the Year' in 2020, base editing is a novel technique that combines CRISPR with a base editor to selectively modify a single DNA base in the genome. This is particularly relevant for PACS1 Syndrome, which is caused by a single point mutation. The foundation-funded project has identified some promising vectors which need to be further tested in-vivo and in-vitro to confirm safety and efficacy.
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Institution: The Jackson Laboratory​
Principal Investigator: Steve Murray, Ph.D.
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Project: Mouse Model for PACS1 Syndrome
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Our collaboration with The Jackson Laboratory (JAX) on mouse models of PACS1 Syndrome is continuing to make progress. JAX has developed a new mouse model of PACS1 Syndrome. This mouse model is currently undergoing phenotyping to confirm relevant characteristics that can be used in the future for testing potential therapeutics for PACS1 Syndrome on the mice. The foundation has committed additional funding to JAX to continue this important phenotyping work.​
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