Rare Daily Staff
The drug discovery platform company Perlara today said it has entered into a collaboration Harvard Medical School and the Undiagnosed Diseases Network to launch scientific discovery programs for two rare, monogenic neurodevelopmental disorders.
Perlara partners with highly motivated families and drug developers to treat diseases thought too rare to attract the interest of pharmaceutical companies. The first collaboration will focus on a de novo heterozygous mutation in the GNAO1 gene, and the other will focus on a de novo heterozygous mutation in RPS6KA3 (Coffin-Lowry Syndrome).
GNAO1 and RPS6KA3 are both evolutionarily conserved genes with functional equivalents present in model organisms. Perlara will develop and validate nematode and fly patient avatars of pathogenic GNAO1 and RPS6KA3 mutations for use in high-throughput phenotypic drug screens. It will begin by exploring the potential to repurpose existing drugs as a treatment for these conditions.
“A few years ago, genomics finally made it possible to bring diagnoses to many patients,” said 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. “Now, precision medicine—fully embodied in this collaboration—offers the hope of finding treatments.”
Posted March 3, 2018
Photo Matt Might, advisor to the Undiagnosed Diseases Network Coordinating Center