More cures on the horizon

Ride a rising tide of collaborative drug discovery

Perlara is working with rare disease families and drug companies to find cures for thousands of diseases previously believed to be too small to cure. We call these exciting journeys of discovery PerlQuests.

There are about 7000 rare diseases affecting 350 million people worldwide, of which roughly half are inherited, i.e. relating to genes. Until now, the cost of discovering chemical compounds that might be safe and effective candidates for the development of an FDA approved drug therapy has been too high for “rare” diseases affecting small populations. At the current rate of new drug approvals, it will take another 450 years before drugs are approved for all rare diseases.

Our Perlara Drug Discovery Platform increases the speed and lowers the cost of cure discovery by rapidly screening thousands of potential drug candidates, providing new hope for millions of rare disease patients.


We have identified at least 250 single-gene diseases that fit our Perlara Platform. These diseases share some overlap with common diseases, allowing us to begin the quest for treatments for over 1000 diseases. Our first PerlQuests target Niemann-Pick C Disease (NPC) and Niemann-Pick A Disease (NPA), lysosomal storage disorders, NGLY1 Deficiency, a metabolic disease related to proteasome-mediated degradation, and PMM2-CDG, a congenital disorder of glycosylation. What we are learning from the NPC PerlQuest may lead to drug candidates for Alzheimer’s disease.

Our first PerlQuesters are Grace Science Foundation (NGLY1), Wylder Nation Foundation (NPA), and Maggie’s PMM2-CDG Cure, three pioneers in the search for treatments of rare diseases.

PerlQuests timeline

Let’s PerlQuest together

Work with us to start your own rare disease PerlQuest. Share some information below to get things started. We’ll get back to you shortly to discuss the program and possible next steps.


Still have questions about PerlQuests?

Follow a PerlQuest

Research updates from our Blog

World Rare Disease Day 2017

This post is dedicated to World Rare Disease Day (WRDD) 2017. It was at the WRRD four years earlier when the value proposition for Perlara crystalized in my mind. I went to NIH that frosty last day of February in order to meet with patient advocates and ask them one...

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Optimizing my first High Throughput Screen

I, along with Nina, performed our first high-throughput screen – well really medium-throughput but high-throughput for us – on Niemann-Pick Type C (NPC) patient-derived fibroblasts a couple of months back. We wanted to do a pilot screen with the Microsource bioactives...

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NPC1 KO mouse brain study

Well it has been a little while since I wrote a post, and a lot has happened since then, which I am sure you read about in our blogs and tweets. We changed our company name, partnered with Novartis and started partnering with patient groups to engineer our organisms...

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