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1. WO2021248034 - METHODS OF DETECTING MITOCHONDRIAL DISEASES

Publication Number WO/2021/248034
Publication Date 09.12.2021
International Application No. PCT/US2021/035951
International Filing Date 04.06.2021
IPC
C12Q 1/6883 2018.1
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
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
A61K 35/14 2015.1
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
35Medicinal preparations containing materials or reaction products thereof with undetermined constitution
12Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
14Blood; Artificial blood
A61K 35/15 2015.1
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
35Medicinal preparations containing materials or reaction products thereof with undetermined constitution
12Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
14Blood; Artificial blood
15Cells of the myeloid line, e.g. granulocytes, basophils, eosinophils, neutrophils, leucocytes, monocytes, macrophages or mast cells; Myeloid precursor cells; Antigen-presenting cells, e.g. dendritic cells
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
C12Q 2600/158
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
158Expression markers
G16B 20/20
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
20ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
G16B 25/10
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
25ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
10Gene or protein expression profiling; Expression-ratio estimation or normalisation
G16H 50/20
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
20for computer-aided diagnosis, e.g. based on medical expert systems
Applicants
  • THE GENERAL HOSPITAL CORPORATION [US]/[US]
  • CHILDREN'S MEDICAL CENTER CORPORATION [US]/[US]
  • PRESIDENT AND FELLOWS OF HARVARD COLLEGE [US]/[US]
  • THE BROAD INSTITUTE, INC. [US]/[US]
  • MASSACHUSETTS INSTITUTE OF TECHNOLOGY [US]/[US]
Inventors
  • MOOTHA, Vamsi
  • SANKARAN, Vijay
  • LAREAU, Caleb
  • WALKER, Melissa
  • LUDWIG, Leif
  • REGEV, Aviv
Agents
  • MILLER, Carin
  • NIX, F., Brent
Priority Data
63/034,74004.06.2020US
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) METHODS OF DETECTING MITOCHONDRIAL DISEASES
(FR) MÉTHODES DE DÉTECTION DE MALADIES MITOCHRONDRIALES
Abstract
(EN) Described herein are methods of determining segregation dynamics of mitochondrial DNA herein. Also described herein are methods of diagnosing, prognosing, and/or monitoring a mitochondrial disease.
(FR) L'invention concerne des méthodes de détermination de dynamique de ségrégation d'ADN mitochondrial. L'invention concerne également des méthodes de diagnostic, de pronostic et/ou de surveillance d'une maladie mitochondriale.
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