Perlstein Lab slide deck.

1. perlsteinlab.com
info@perlsteinlab.com
@perlsteinlab

2. Mission
Precision medicine for orphan disease patients

3. Experience
Ethan O. Perlstein, PhD
Founder
Lewis-Sigler Fellow
2007-2012
Ph.D. in
chemical biology
2001-2006
B.A. in
sociology
1997-2001
Milestones
founded in Dec 2013
located in San Francisco
and part of QB3 network
affiliated with Janssen Labs

4. Problem
95% of orphan diseases have no FDA approved drug.

5. Solution
Perlstein Lab’s patient-centered approach
1 in 12 people has an
orphan disease
every orphan disease has
a spectrum of mutations
PL generates proprietary
personalized orphan drug
candidates for each mutation

6. Market
In the US alone there are 30M orphan disease patients.
1,500 diagnosed
single-gene
diseases
3,000 total
single-gene
diseases
6,000 genetic
diseases

7. Leveraging primordial models
Danio rerio
70% shared ancestry
Drosophila melanogaster
60% shared ancestry
Caenorhabditis elegans
38% shared ancestry
Saccharomyces cerevisiae
31% shared ancestry
Recent advances in DNA
sequencing and genome editing
enable patient-tailored drug
discovery for thousands of
conserved orphan disease
genes.

8. Platform
lead optimization
safety and efficacy studies
in patient-derived cells
rapid, scalable
growth-based
drug screens
mutation-matched
genome-edited primordial
models
orphan patient
genetic profiles
0 months
3 months
6 months
“Lead gen for orphan drug developers”
18 months

9. Scaling the platform
PL is initially focusing on Lysosomal Storage Diseases, which are estimated to afflict
over 1M patients globally, but each LSD is caused by at least 50 different mutations.
Tay-Sachs
Sialidosis
Morquio A
Fucosidosis
Pompe disease
Griscelli Type 3
Chediak-Higashi
Mucolipidosis IV
Pycnodystostosis
Metachromatic
leukodystrophy I
Globoid cell
leukodystrophy
Pseudo-Hurler
polydystrophy
GM2 gangliosidosis
Niemann-Pick A/B
MPS Type I
Griscelli Type 1
MPS Type II
Griscelli Type 2
MPS Type IIIa
MPS Type IIIb
MPS Type IIIc
MPS Type IIId
MPS Type IVB
MPS Type VI
Gaucher Type II
Ceroid lipofuscinosis 2
Schindler disease
Ceroid lipofuscinosis 6
Metachromatic
leukodystrophy II
Ceroid lipofuscinosis 8
Sandhoff disease
Salla disease
Gaucher Type 1
MPS Type VII
β-Mannosidosis
Niemann-Pick Type C
Incidence: 1 in 130,000 births
Prevalence: 2-3,000 patients
# of mutations: > 200 known
α-Mannosidosis
Fabry disease
Cystinosis
Ceroid lipofuscinosis 1
Aspartylglucosaminuria
Niemann-Pick C
Batten disease
Wolman disease
Primordial
disease gene
present?

10. Team
Full time
Scientist
#1
Scientist
#3
CROs
Contract
Advisors
Scientist
#2
Linda Avey
Cathy Stewart
entrepreneurship
academic drug discovery
Scientist
#4
CMOs
John Alan Tucker
medicinal chemistry
Oli Rayner
patient advocacy