Perlstein Lab raises $2 million towards production of treatments for rare conditions

San Francisco-based Perlstein Lab recently closed a $2 million seed round co-led by clinical-stage "orphan drug" developer Retrophin and the Wilsey family, which is personally affected by an "orphan disease."

One in 12 people suffer from an orphan disease, a rare condition that affects a small percentage of the population, but 95 percent of orphan diseases have no FDA-approved pharmaceuticals to treat them.

According to Perlstein, the lab's platform produces patient-specific small-molecule drug candidates by combining patient mutation data, validation studies in matched patient cells and screens of genome-edited disease models.

Ethan Perlstein, the CEO and founder of Perlstein Lab, said the labs generally focus on lysosomal storage disease like Tay-Sachs disease and Gaucher disease.

The lab customizes disease models for patients by editing the genomes of yeast cells, fruit flies, worms and zebrafish to reflect patient mutations in certain genes. The process was critical to the development of a previously approved thyroid cancer drug called Caprelsa.

After editing the genomes of organisms, the lab screens the organism to produce mutation-specific compounds faster and at a lower cost than current approaches and applies leads into toxicology and biomarker studies in patient-derived cells.

Perlstein said the approach minimizes the use of lab mice and rats in favor of a genetically altered approach to bring personalized orphan drugs to market.