Coffin-Lowry Syndrome (RPS6KA3) PerlQuest
Photo of James for Rare Project courtesy of Ceridwen Hughes Photography. © Same but Different CIC
PerlQuest Partners
“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
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
“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
Chairperson
The Coffin-Lowry Syndrome Foundation
“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
Coffin-Lowry Syndrome, UK
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