GNAO1 PerlQuest

PerlQuest Partners

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“This is an exciting time for patients and precision medicine. A few years ago, genomics finally made it possible to bring diagnoses to many patients. Now, precision medicine — fully embodied in this collaboration — offers the hope of finding treatments.”
Matt Might
Advisor to the Undiagnosed Diseases Network Coordinating Center, faculty member at the Department of Biomedical Informatics at Harvard Medical School, and Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham

Our Progress

Screening of repurposing library on yeast model is complete and worm model to begin soon.

Community Partners

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“The Bow Foundation is excited to continue increasing GNAO1 awareness as a Perlara community partner on their GNAO1 PerlQuest. Perlara’s work will help put children with a GNAO1 related neurodevelopmental disorder further on the radar of researchers and pharmaceutical companies. We look forward to working together towards a better tomorrow for children with a GNAO1 disorder.”

—Alice Fox & Emily Bell
Co-Founders and Co-Chairs of the Bow Foundation

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PerlQuest updates from our Blog

Conducting a GNAO1 yeast screen

As discussed in a previous post, we are currently working on a GNAO1 PerlQuest collaboration with the Undiagnosed Diseases Network (UDN) and Harvard Medical School. GNAO1 is a gene that encodes for the alpha subunit of a G protein, and mutations in this gene lead a...

Modeling GNAO1 in Yeast

As part of Perlara’s collaboration with the Undiagnosed Disease Network (UDN) and Harvard Medical School on the GNAO1 PerlQuest - which our Director of R&D, Nina DiPrimio, introduced in a previous post - I have been working with the yeast team headed by Jessica...

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