CA2716375C - Genetic alterations associated with autism and the autistic phenotype and methods of use thereof for the diagnosis and treatmemt of autism - Google Patents

Genetic alterations associated with autism and the autistic phenotype and methods of use thereof for the diagnosis and treatmemt of autism Download PDF

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Publication number
CA2716375C
CA2716375C CA2716375A CA2716375A CA2716375C CA 2716375 C CA2716375 C CA 2716375C CA 2716375 A CA2716375 A CA 2716375A CA 2716375 A CA2716375 A CA 2716375A CA 2716375 C CA2716375 C CA 2716375C
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Prior art keywords
chromosome
autism
nucleic acid
cnv
snp
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English (en)
French (fr)
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CA2716375A1 (en
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Hakon Hakonarson
Joseph Glessner
Jonathan Bradfield
Struan Grant
Haitao Zhang
Kai Wang
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Childrens Hospital of Philadelphia CHOP
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Childrens Hospital of Philadelphia CHOP
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/136—Screening for pharmacological compounds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/16—Primer sets for multiplex assays

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Biomedical Technology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
CA2716375A 2008-02-20 2009-02-20 Genetic alterations associated with autism and the autistic phenotype and methods of use thereof for the diagnosis and treatmemt of autism Active CA2716375C (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US3013608P 2008-02-20 2008-02-20
US61/030,136 2008-02-20
US10716308P 2008-10-21 2008-10-21
US61/107,163 2008-10-21
PCT/US2009/034784 WO2009105718A1 (en) 2008-02-20 2009-02-20 Genetic alterations associated with autism and the autistic phenotype and methods of use thereof for the diagnosis and treatmemt of autism

Publications (2)

Publication Number Publication Date
CA2716375A1 CA2716375A1 (en) 2009-08-27
CA2716375C true CA2716375C (en) 2018-05-29

Family

ID=40985948

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2716375A Active CA2716375C (en) 2008-02-20 2009-02-20 Genetic alterations associated with autism and the autistic phenotype and methods of use thereof for the diagnosis and treatmemt of autism

Country Status (6)

Country Link
US (2) US9783851B2 (https=)
EP (1) EP2257644B1 (https=)
JP (1) JP6078211B2 (https=)
AU (1) AU2009217278B2 (https=)
CA (1) CA2716375C (https=)
WO (1) WO2009105718A1 (https=)

Families Citing this family (33)

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Publication number Priority date Publication date Assignee Title
BRPI0918868B8 (pt) 2008-09-18 2021-05-25 Naurex Inc compostos moduladores do receptor de nmda e composições compreendendo os mesmos
JP5881420B2 (ja) * 2008-11-12 2016-03-09 ユニバーシティ・オブ・ユタ・リサーチ・ファウンデイション 自閉症関連遺伝子マーカー
US8951968B2 (en) 2009-10-05 2015-02-10 Northwestern University Methods of treating depression and other related diseases
US8772242B2 (en) 2009-10-26 2014-07-08 Thomas Julius Borody Therapy for enteric infections
CA2807505A1 (en) * 2010-08-24 2012-03-01 The Children's Hospital Of Philadelphia Association of rare recurrent genetic variations to attention-deficit, hyperactivity disorder (adhd) and methods of use thereof for the diagnosis and treatment of the same
CA2834286A1 (en) * 2011-04-27 2012-11-01 Northwestern University Methods of treating alzheimer's disease, huntington's disease, autism, and other disorders
WO2012173809A2 (en) * 2011-06-02 2012-12-20 Ehli Erik Method of identifying de novo copy number variants (cnv) using mz twins discordant for attention problems/disorders
CA2798906A1 (en) * 2011-12-22 2013-06-22 Mohammed Uddin Genome-wide detection of genomic rearrangements and use of genomic rearrangements to diagnose genetic disease
US20130210657A1 (en) * 2012-01-25 2013-08-15 The Hospital For Sick Children Method of Determining Risk of Autism Spectrum Disorder
AU2013230045A1 (en) * 2012-03-05 2014-09-11 Berg Llc Compositions and methods for diagnosis and treatment of pervasive developmental disorder
JP2015510756A (ja) * 2012-03-09 2015-04-13 アンテグラージェン 自閉症のリスクを評価するため遺伝子型決定テスト
WO2013139861A1 (en) 2012-03-20 2013-09-26 Luc Montagnier Methods and pharmaceutical compositions of the treatment of autistic syndrome disorders
MX357392B (es) 2012-04-02 2018-07-06 Berg Llc Ensayos basados en interrogatorios celulares y uso de los mismos.
WO2014012144A1 (en) * 2012-07-20 2014-01-23 The University Of Melbourne Method of diagnosing or prognosing a neurological disorder
JP2016506962A (ja) 2013-01-29 2016-03-07 ノーレックス, インコーポレイテッドNaurex, Inc. スピロラクタム系ｎｍｄａ受容体モジュレーターおよびその使用
PE20151416A1 (es) 2013-01-29 2015-10-10 Naurex Inc Moduladores de receptores nmda de espiro-lactama y sus usos
KR102410989B1 (ko) 2013-01-29 2022-06-17 앱티닉스 인크. 스피로-락탐 nmda 수용체 조절인자 및 그의 용도
EP2951186B1 (en) 2013-01-29 2018-07-25 Aptinyx Inc. Spiro-lactam nmda receptor modulators and uses thereof
US9758525B2 (en) 2013-01-29 2017-09-12 Aptinyx Inc. Spiro-lactam NMDA receptor modulators and uses thereof
US11219617B2 (en) 2014-05-30 2022-01-11 The Children's Hospital Of Philadelphia Methods of diagnosing and treating autism
CN114203296B (zh) 2014-09-11 2025-10-17 布普格生物制药公司 基于患者数据的用于健康护理诊断和治疗的贝叶斯因果关系网络模型
WO2016057810A1 (en) * 2014-10-08 2016-04-14 The Broad Institute, Inc. Markers for assessing risk of developing or having obsessive compulsive disorder
WO2016109449A1 (en) * 2014-12-29 2016-07-07 The Board Of Trustees Of The Leland Stanford Junior University Methods of diagnosing autism spectrum disorders
PL4023222T3 (pl) 2015-09-08 2025-03-24 The Children's Hospital Of Philadelphia Nieselektywny aktywator metabotropowych receptorów glutaminianu do leczenia zespołu 22q
PE20190174A1 (es) 2016-05-19 2019-02-01 Aptinyx Inc Moduladores del receptor espiro-lactama n-metil-d-aspartato y usos de los mismos
WO2017201285A1 (en) 2016-05-19 2017-11-23 Aptinyx Inc. Spiro-lactam nmda receptor modulators and uses thereof
KR102465758B1 (ko) 2016-08-01 2022-11-09 앱티닉스 인크. 스피로-락탐 nmda 수용체 조정제 및 그의 용도
WO2018026798A1 (en) 2016-08-01 2018-02-08 Aptinyx Inc. Spiro-lactam nmda modulators and methods of using same
AU2017306158B2 (en) 2016-08-01 2021-10-14 Aptinyx Inc. Spiro-lactam and bis-spiro-lactam NMDA receptor modulators and uses thereof
IL286107B2 (en) 2016-08-01 2024-09-01 Aptinyx Inc Spiro-lactam nmda receptor modulators and usesthereof
JP7036792B2 (ja) 2016-08-01 2022-03-15 アプティニックス インコーポレイテッド スピロ－ラクタムｎｍｄａ受容体修飾因子およびその使用
PE20210455A1 (es) 2018-01-31 2021-03-08 Aptinyx Inc Moduladores del receptor nmda espiro-lactama y usos de los mismos
US12012413B2 (en) 2019-11-11 2024-06-18 Tenacia Biotechnology (Hong Kong) Co., Limited Methods of treating painful diabetic peripheral neuropathy

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003052086A1 (en) * 2001-12-14 2003-06-26 President And Fellows Of Harvard College Immune related neuronal receptors and therapeutic uses thereof
EP1554403A1 (en) * 2002-10-10 2005-07-20 K.U. Leuven Research and Development Autism gene

Also Published As

Publication number Publication date
US20110207124A1 (en) 2011-08-25
CA2716375A1 (en) 2009-08-27
WO2009105718A1 (en) 2009-08-27
US20180148786A1 (en) 2018-05-31
EP2257644A1 (en) 2010-12-08
JP2011512163A (ja) 2011-04-21
EP2257644A4 (en) 2011-07-06
AU2009217278A1 (en) 2009-08-27
US9783851B2 (en) 2017-10-10
AU2009217278B2 (en) 2015-08-20
EP2257644B1 (en) 2015-06-24
JP6078211B2 (ja) 2017-02-15

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