Perlara PBC

I’ve got a rare genetic disease,
but I’m much more than that.
I’m an explorer!

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Perlara embarks on journeys of discovery called PerlQuests™ with families, patient organizations and researchers to develop treatments for rare diseases.

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 PerlArk™ 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.

Perlquests

We have identified at least 250 single-gene diseases that fit our PerlArk™ 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.

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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.

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Still have questions about PerlQuests?

Research updates from our Blog

Conducting a GNAO1 yeast screen

As discussed in a previous post, we are currently working on a GNAO1 PerlQuest collaboration with the Undiagnosed Diseases Network (UDN) and Harvard Medical School. GNAO1 is a gene that encodes for the alpha subunit of a G protein, and mutations in this gene lead a...

Modeling Pompe disease in flies

Here at Perlara we are excited to announce our probe into Pompe disease which, along with Cori disease, comprise our glycogen storage disease PerlQuest. For this project we will be collaborating with the Warren Center at the University of Notre Dame. Our goal is to...

Developing an NPA patient fibroblast screen

Niemann-Pick Type A (NPA) affects about 1 in 250,000 individuals, with a higher frequency in individuals of Ashkenazi Jewish descent, where it's about 1 in 40,000. NPA is caused by a mutation in the SMPD1 gene, a gene encoding acid sphingomyelinase which, when...

PMM2-CDG preprint figures – part 2

This is a continuation of a previous post, which covered Figures 1 – 4 of Perlara's preprint on bioRxiv, describing our work in modeling PMM2 patient alleles. This work is currently under review at the Genetics Society of America's peer-reviewed journal G3. This...

PMM2-CDG preprint figures – part 1

Last September, we submitted Perlara’s second preprint to bioRxiv describing our yeast models of PMM2 deficiency. This work is currently under review at the Genetics Society of America's peer-reviewed journal G3. Below is the description of the figures from the...

2018 Global Genes Summit recap

In October, Ethan, Nina and I attended the 2018 Global Genes RARE Patient Advocacy Summit, held in Irvine, CA. This was the 7th annual gathering of rare disease patients, advocates, and researchers, and the largest gathering of the rare disease community worldwide....

Grace Science Foundation’s 2018 NGLY1 Conference recap

This past summer was a rare disease conference-palooza. In July, I attended the 2018 NGLY1 Conference, hosted by Grace Science Foundation (GSF) in Palo Alto. It was the 5th gathering of families and scientists from around the world, united behind one goal: to find a...

2018 Yeast Genetics Meeting recap

The 2018 Yeast Genetics Meeting (#Yeast18) was held in August at Stanford University in Palo Alto. I learned about the latest developments in research and advances in tools and technology, reconnected with former colleagues, and established new connections and...

Launching the Cori disease PerlQuest

I’m happy to announce that the Perlara family has grown! We recently launched a new PerlQuest for glycogen storage disease type III (GSDIII) - also known as Cori disease - in collaboration with Richard Taylor of the Warren Center and the University of Notre Dame. As...

Announcing the Sanfilippo syndrome PerlQuest

Hello readers! I’m eager to share some news with you: Perlara has signed new PerlQuests! One of our latest drug discovery efforts is a mucopolysaccharadosis (lysosomal storage diseases MPSIIIA and MPSIIIB) collaboration with Cure Sanfilippo Foundation...

CFTR-pancreatitis PerlQuest update

In our previous CFTR-pancreatitis blog post, I discussed our plan of action for developing yeast models of pancreatitis-associated CFTR variants as a part of our Pancreatitis PerlQuest partnership with Mission: Cure. In this post, I will share with you the progress...

Perlara’s 2018 Global Genes presentation

The Global Genes 2018 RARE Patient Advocacy Summit – one of the key events in the rare disease world – wraps up today. As the largest worldwide gathering of rare disease patients, advocates, and thought leaders, the summit brought together over 100 experts, who led...

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