Coffin-Lowry Syndrome (RPS6KA3) PerlQuest

Photo of James for Rare Project courtesy of Ceridwen Hughes Photography. © Same but Different CIC

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

Model organism phenotyping is underway.

Community Partners

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“Coffin-Lowry Syndrome Foundation (CLSF), a global parent information and support group, is pleased to partner with Perlara and build awareness of the CLS (RPS6KA3) PerlQuest. The collaborative drug discovery effort gives hope for new insights about CLS and better lives for our children.”

Mary Hoffman
Chairperson

The Coffin-Lowry Syndrome Foundation

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“Consistent with our mission to raise awareness of Coffin-Lowry Syndrome, we are excited to support Perlara in this new PerlQuest with the hope that one day we can improve the quality of life of those living with this rare disease.”

Laura Askew
Coffin-Lowry Syndrome, UK

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PerlQuest updates from our Blog

Our collaboration with the Undiagnosed Diseases Network

This is my first post in a few months, and a lot has changed at Perlara since then! We doubled in size, expanding and creating more research teams, and launched multiple new PerlQuests. Our latest news is that we have launched a collaboration with the Undiagnosed...

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