SAN FRANCISCO, Calif., March 2, 2018 /PRNewswire/ -- Perlara, a drug discovery platform company partnering with highly motivated families and drug developers to treat diseases thought too rare to attract the interest of pharmaceutical companies, today announced a collaboration with Harvard Medical School and the Undiagnosed Diseases Network to launch PerlQuests for two rare monogenic neurodevelopmental disorders. One is caused by a de novo heterozygous mutation in GNAO1, and the other is caused by 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, like Caenorhabditis elegans and Drosophila melanogaster. Perlara will develop and validate nematode and fly patient avatars of pathogenic GNAO1 and RPS6KA3 mutations for use in high-throughput phenotypic drug screens, starting with drug repurposing.
"One of the core missions of Perlara is to ensure a seamless transition from the conclusion of the diagnostic odyssey to the beginning of the therapeutic odyssey," says Perlara founder and CEO Ethan Perlstein, PhD. "We're especially excited to launch PerlQuests in the neurodevelopmental disease space in collaboration with the researchers and clinicians who are working tirelessly on behalf of rare disease families in the Undiagnosed Diseases Network."
"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," says 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.
Perlara is the first biotech public benefit corporation (bioPBC) that discovers definitive treatments for rare diseases and learns how genes work across diseases to map connections to common ailments. Perlara embarks on journeys of scientific discovery called PerlQuests™ with families, patient organizations and BioPharma and clinical partners. The Perlara Drug Discovery Platform creates disease models using simple animals that share genetic similarity with humans, allowing screening of massive numbers of disease models and drug candidates quickly and at low cost.
For general information, visit www.perlara.com.