Scalable drug discovery platform

Perlara uses a platform of genetically engineered animals (yeast, nematodes, fruit flies and zebrafish) in phenotypic screens to identify orphan drug candidates that reverse disease much faster and cheaper than current approaches. Our proof-of-concept diseases are Niemann-Pick type C (NPC), a lysosomal storage disorder first described nearly a century ago, and NGLY1 Deficiency, a metabolic disease related to proteasome-mediated degradation.

PerlArk™ Platform Science

1. What does Perlara do?

Perlara develops precision drug discovery programs for rare genetic diseases. We engineer model organisms to express patient mutations for use in industrial-scale, organism-based phenotypic screens,

2. Shared genes

All animals sit on the same branch of the evolutionary tree and share thousands of genes. Many of these ancient genes are unchanged at the DNA level despite a billion years of evolution.

3. Single gene diseases

Single gene diseases are caused by a spectrum of mutations and result in cellular defects. Missense mutations prevent proteins from folding correctly, which causes partial loss of gene function. Nonsense mutations prevent protein production, which a causes complete loss of gene function.

4. Gene editing

Gene editing technology enables us to generate patient-mutation-matched Perlara disease models that leave no mutation behind.

Automated drug screening to Identify orphan drug candidates

5. Automated drug screening

The resulting disease models manifest cellular defects that can be reversed by novel chemical entities in drug screens. The first version of the PerlArk™ Platform leverages multi-well plate technology and automation.

Identify orphan drug candidates

6. Bio-Pharma cure pipeline

We partner with BioPharma and Patient advocacy Groups to advance precision drug candidates to the clinic. Our pipeline begins with childhood single-gene disease involving loss of an ancient cellular process: lipid storage diseases, congenital disorders of glycosylations, peroxisomal biogenesis disorders, mitochondrial diseases, ciliopathies and laminopathies.

Science 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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