Major pharmaceutical companies rarely focus on
orphan diseases, conditions that affect less than 200,000 people nationwide.
While many are complex, around 4,000 orphan diseases are caused by only one
mutation in a single gene.

Perlstein Lab is a company launching out of our Winter 2016 class that has
built an automated drug discovery platform for all rare diseases. It screens
for model compounds that can reverse a disease in simple model organisms like
yeast cells and nematodes. If a compound is found, this drug candidate can then
be tested with patients. 

Jay Donovan wrote a story about Perlstein Lab on TechCrunch:

“First of all, it is
important to know that, according to Perlstein, there are about 7000 diseases
classified as rare and 95% of these have no FDA approved cure. This is PLab’s
area of focus. This is a much different model than Big Pharma which usually
focuses on more common illnesses where the research ROI stands to be much
greater.

Of these 7000 rare
diseases, about half are caused by a single broken gene. These are usually
inherited diseases and affect children.

PLab focuses on single
broken gene diseases initially because they are obviously less complex and
easier to approach. Using a molecular apparatus known as a CRISPR—which
Perlstein likened to a command line editor for animal genomes—PLab alters the
genome of test animals (yeasts, flies, worms, fish and sometimes mice) to mimic
the broken gene disorder…to essentially, make them ill. Because many of these
animal are small, even microscopic, PLab can have large numbers of them to test
against. 

Then, using an automated
platform, they apply thousands of chemical compounds to these animals to see
which compounds are effective at reversing or bypassing the loss of the broken
gene’s function.”

Read the full story here and learn more about Perlstein Lab through their blog.