Rare Disease Report

Perlara, Harvard, Undiagnosed Diseases Network to Research Neurodevelopmental Disorders

MARCH 05, 2018
Kaitlynn Ely
The drug discovery platform company, Perlara, has joined forces with Harvard Medical School and the Undiagnosed Diseases Network to launch PerlQuests for two rare monogenic neurodevelopmental disorders, Coffin-Lowry syndrome caused by a mutation in the RPS6KA3 gene and GNAO1 encephalopathy.

Pledging itself to work alongside families, patient organizations and clinical partners, Perlara is the first biotech public benefit corporation (bioPBC) dedicated to discovering treatments for rare diseases and understanding how genes work in rare disease patients to provide common ailments as efficiently and quickly as possible.

In addition, Perlara is dedicated to increasing the speed and lowering the cost of rare disease cure discovery. Their mission is to increase the rate of FDA drug approvals indicated for one of the 7000 rare diseases.

"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 in a press release. "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."

The company’s PerlQuests are journeys of scientific discovery that use animal disease models that share genetic similarity with humans to screen massive amounts of disease models and drug candidates quickly and at a low cost.

Mutations in the genes GNAO1 and RPS6KA3 are present in model organisms, such as the nematode and fly. Perlara will develop avatars of pathogenic GNAO1 and RPS6KA3 mutations to be used in high-throughput phenotypic drug screens.

"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.

Currently, the company has identified 250 single-gene diseases that share some overlap with common diseases, sparking research for over 1000 diseases. Past PerlQuests have targeted Niemann-Pick C Disease (NPC), lysosomal storage disorders, and PMM2-CDG, a congenital disorder of glycosylation. Perlara has also worked alongside the Grace Science Foundation, Wylder Nation Foundation, and Maggie’s PMM2-CDG Cure to search for potential treatments.
 

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