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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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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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/136Screening for pharmacological compounds
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer 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)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Neurosurgery (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biomedical Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Neurology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (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 (enExample)
EP (1) EP2257644B1 (enExample)
JP (1) JP6078211B2 (enExample)
AU (1) AU2009217278B2 (enExample)
CA (1) CA2716375C (enExample)
WO (1) WO2009105718A1 (enExample)

Families Citing this family (33)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101769999B1 (ko) 2008-09-18 2017-08-21 노오쓰웨스턴 유니버시티 Nmda 수용체 조절제 및 그의 용도
US20100210471A1 (en) * 2008-11-12 2010-08-19 University Of Utah Research Foundation Autism associated genetic markers
US8951968B2 (en) 2009-10-05 2015-02-10 Northwestern University Methods of treating depression and other related diseases
EP2493471B1 (en) * 2009-10-26 2019-11-27 Thomas Julius Borody Novel enteric combination therapy
ES2686300T3 (es) 2010-08-24 2018-10-17 The Children's Hospital Of Philadelphia Asociación de variaciones genéticas raras recurrentes con el trastorno por déficit de atención e hiperactividad (TDAH) y procedimientos de uso de las mismas para el diagnóstico y tratamiento del mismo
US20140107037A1 (en) * 2011-04-27 2014-04-17 Northwestern University Methods of treating alzheimer's disease, huntington's disease, autism, or 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
KR20140140069A (ko) * 2012-03-05 2014-12-08 버그 엘엘씨 전반적 발달장애의 진단 및 치료용 조성물 및 그 진단 및 치료 방법
AU2013229381A1 (en) * 2012-03-09 2014-09-25 Integragen A genotyping test for assessing risk of autism
WO2013139861A1 (en) 2012-03-20 2013-09-26 Luc Montagnier Methods and pharmaceutical compositions of the treatment of autistic syndrome disorders
JP6189926B2 (ja) 2012-04-02 2017-08-30 バーグ エルエルシー 照合による細胞に基づくアッセイ及びその使用
WO2014012144A1 (en) * 2012-07-20 2014-01-23 The University Of Melbourne Method of diagnosing or prognosing a neurological disorder
CN105308049A (zh) 2013-01-29 2016-02-03 阿普廷伊克斯股份有限公司 螺-内酰胺nmda受体调节剂及其用途
WO2014120786A1 (en) 2013-01-29 2014-08-07 Naurex, Inc. Spiro-lactam nmda receptor modulators and uses thereof
SI2951183T1 (sl) 2013-01-29 2019-07-31 Aptinyx Inc. Spiro-laktam NMDA receptorski modulatorji in njihove uporabe
WO2014120784A1 (en) 2013-01-29 2014-08-07 Naurex, Inc. Spiro-lactam nmda receptor modulators and uses thereof
US9738650B2 (en) 2013-01-29 2017-08-22 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
AU2015314956A1 (en) 2014-09-11 2017-04-06 Berg Llc Bayesian causal relationship network models for healthcare diagnosis and treatment based on patient data
WO2016057810A1 (en) * 2014-10-08 2016-04-14 The Broad Institute, Inc. Markers for assessing risk of developing or having obsessive compulsive disorder
US20170369945A1 (en) * 2014-12-29 2017-12-28 The Board Of Trustees Of The Leland Stanford Junior University Methods of diagnosing autism spectrum disorders
AU2016318780B2 (en) 2015-09-08 2022-04-07 The Children's Hospital Of Philadelphia Methods of diagnosing and treating Tourette syndrome
WO2017201285A1 (en) 2016-05-19 2017-11-23 Aptinyx Inc. Spiro-lactam nmda receptor modulators and uses thereof
WO2017201283A1 (en) 2016-05-19 2017-11-23 Aptinyx Inc. Spiro-lactam nmda receptor modulators and uses thereof
JP7032378B2 (ja) 2016-08-01 2022-03-08 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受容体修飾因子及びその使用
SG11201900554YA (en) 2016-08-01 2019-02-27 Aptinyx Inc Spiro-lactam nmda modulators and methods of using same
MX383650B (es) 2016-08-01 2025-03-14 Aptinyx Inc Moduladores del receptor nmda espiro-lactam y uso de los mismos.
WO2018026763A1 (en) 2016-08-01 2018-02-08 Aptinyx Inc. Spiro-lactam nmda receptor modulators and uses thereof
AU2017306158B2 (en) 2016-08-01 2021-10-14 Aptinyx Inc. Spiro-lactam and bis-spiro-lactam NMDA receptor modulators and uses thereof
CN112204031B (zh) 2018-01-31 2024-05-24 元羿生物科技(香港)有限公司 螺-内酰胺nmda受体调节剂及其用途
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
US8071314B2 (en) * 2001-12-14 2011-12-06 President And Fellows Of Harvard College Immunocellular receptors related to neurological disorders and therapeutic uses thereof
US20060194201A1 (en) * 2002-10-10 2006-08-31 Jean-Pierre Fryns Autism gene

Also Published As

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

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