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1. WO2020118158 - DRUG DISCOVERY AND EARLY DISEASE IDENTIFICATION PLATFORM USING ELECTRONIC HEALTH RECORDS, GENETICS AND STEM CELLS

Publication Number WO/2020/118158
Publication Date 11.06.2020
International Application No. PCT/US2019/064887
International Filing Date 06.12.2019
IPC
C40B 30/06 2006.01
CCHEMISTRY; METALLURGY
40COMBINATORIAL TECHNOLOGY
BCOMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES, IN SILICO LIBRARIES
30Methods of screening libraries
06by measuring effects on living organisms, tissues or cells
C12Q 1/68 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
G01N 33/48 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
G01N 33/50 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
G06F 19/10 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
G06F 19/18 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
CPC
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
C40B 30/06
CCHEMISTRY; METALLURGY
40COMBINATORIAL TECHNOLOGY
BCOMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES, IN SILICO LIBRARIES
30Methods of screening libraries
06by measuring effects on living organisms, tissues or cells
G01N 2800/28
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2800Detection or diagnosis of diseases
28Neurological disorders
G01N 33/5008
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
48Biological material, e.g. blood, urine
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
5005involving human or animal cells
5008for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
G01N 33/5073
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
48Biological material, e.g. blood, urine
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
5005involving human or animal cells
5008for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
5044involving specific cell types
5073Stem cells
Applicants
  • PRESIDENT AND FELLOWS OF HARVARD COLLEGE [US]/[US]
Inventors
  • RUBIN, Lee, L.
  • KOHANE, Isaac, S.
  • LIPNICK, Scott, Logan
Agents
  • DIPIETRANTONIO, Heather, J.
  • ALAM, Saad
  • AMUNDSEN, Eric, L.
  • BAKER, C., Hunter
  • ATTISHA, Michael, J.
Priority Data
62/776,71907.12.2018US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) DRUG DISCOVERY AND EARLY DISEASE IDENTIFICATION PLATFORM USING ELECTRONIC HEALTH RECORDS, GENETICS AND STEM CELLS
(FR) DÉCOUVERTE DE MÉDICAMENT ET PLATEFORME D'IDENTIFICATION PRÉCOCE DE MALADIE À L'AIDE D'ENREGISTREMENTS DE SANTÉ ÉLECTRONIQUES, DE GÉNÉTIQUE ET DE CELLULES SOUCHES
Abstract
(EN)
Disclosed are systems and methods for utilizing electronic health record data (EHR) to group patients with diagnoses of a common disease of interested (e.g. Parkinson's disease) into phenotype clusters that share common clusters of other diagnosis codes (in addition to the Parkinson's diagnosis, for example). The phenotype clusters can be processed with genetic data to identify convergent genetic mutations within each phenotype cluster and output phenotypic- genomic clusters. Then, stem cells from the patients (e.g. iPSCs) may be differentiated into a desired cell type within each phenotypic-genomic cluster, and these differentiated cells may be assayed to identify defects in the various tissues types or organoids. Additionally, the differentiated cells can then be tested with candidate agents to determine whether the agents reverse the defective phenotypes identified in the differentiated tissues or organoids.
(FR)
L'invention concerne des systèmes et des procédés pour utiliser des données d'enregistrement de santé électroniques (EHR) pour regrouper des patients ayant des diagnostics d'une maladie classique d'intérêt (par exemple, la maladie de Parkinson) en groupes de phénotypes qui partagent des groupes classiques d'autres codes de diagnostic (en plus du diagnostic de la maladie de Parkinson, par exemple). Les groupes de phénotypes peuvent être traités avec des données génétiques pour identifier des mutations génétiques convergentes à l'intérieur de chaque groupe de phénotypes et produire des groupes phénotypiques-génomiques. Ensuite, des cellules souches provenant des patients (par exemple iPSC) peuvent être différenciées en un type cellulaire souhaité au sein de chaque groupe phénotypique-génomique, et ces cellules différenciées peuvent être dosées pour identifier des défauts dans les divers types de tissus ou les organoïdes. De plus, les cellules différenciées peuvent ensuite être testées avec des agents candidats pour déterminer si les agents inversent les phénotypes défectueux identifiés dans les tissus différenciés ou les organoïdes.
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