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Perlstein Lab slide deck.
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Precision medicine for orphan disease patients
Mission
Ethan O. Perlstein, PhDFounder
Lewis-Sigler Fellow2007-2012
Ph.D. in chemical biology
2001-2006
B.A. in sociology1997-2001
Milestones
Experience
founded in Dec 2013 located in San Franciscoand part of QB3 network affiliated with Janssen Labs
Problem
95% of orphan diseases have no FDA approved drug.
PL generates proprietary personalized orphan drug
candidates for each mutation
1 in 12 people has an orphan disease
Perlstein Lab’s patient-centered approach
every orphan disease has a spectrum of mutations
Solution
6,000 genetic diseases
Market
3,000 total single-gene
diseases
1,500 diagnosed single-gene
diseases
In the US alone there are 30M orphan disease patients.
Saccharomyces cerevisiae
Drosophila melanogaster
Danio rerio
31% shared ancestry
60% shared ancestry
70% shared ancestry
Leveraging primordial models
Recent advances in DNA sequencing and genome editing enable patient-tailored drug discovery for thousands of conserved orphan disease genes.
Caenorhabditis elegans 38% shared ancestry
3 months 6 months0 months 18 months
orphan patient genetic profiles
mutation-matched genome-edited primordial
models
rapid, scalable growth-baseddrug screens
safety and efficacy studies in patient-derived cells
Platform
“Lead gen for orphan drug developers”
lead optimization
Niemann-Pick CBatten diseaseWolman disease
Niemann-Pick A/B
Griscelli Type 1
Salla disease
CystinosisCeroid lipofuscinosis 1
MPS Type VII
Fabry disease
Gaucher Type 1
Sandhoff disease
Aspartylglucosaminuria
Griscelli Type 2
α-Mannosidosisβ-Mannosidosis
MPS Type I
MPS Type II
MPS Type IIIa
MPS Type IIIb
MPS Type IIIc
MPS Type IIId
MPS Type IVB
Metachromatic leukodystrophy II
Gaucher Type IIMPS Type VI
Schindler disease
Metachromatic leukodystrophy I
Sialidosis
Fucosidosis
Tay-Sachs
Pycnodystostosis
Globoid cellleukodystrophy
Morquio A
Pompe disease
GM2 gangliosidosis
Pseudo-Hurler polydystrophy
Ceroid lipofuscinosis 2
Ceroid lipofuscinosis 6
Ceroid lipofuscinosis 8
Griscelli Type 3
Mucolipidosis IVChediak-Higashi
Niemann-Pick Type CIncidence: 1 in 130,000 birthsPrevalence: 2-3,000 patients # of mutations: > 200 known
Scaling the platform
Primordial disease gene
present?
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.
Team
Scientist #1
CROs CMOs
Full time
Contract
AdvisorsLinda Avey
entrepreneurshipJohn Alan Tuckermedicinal chemistry
Cathy Stewartacademic drug discovery
Oli Raynerpatient advocacy
Scientist #2
Scientist #3
Scientist #4
