Reset filter
Mots-clés
Schizofrene stoornissen ×
Afficher plus Mots-clés
Table des matières
  1. 1. Klinische studie
  2. 2. Routinedocumentatie
  3. 3. Register-/kohortstudies
  4. 4. Kwaliteitswaarborging
  5. 5. Datastandaard
  6. 6. Patiëntenvragenlijst
  7. 7. Medisch vakgebied
Modèles de données sélectionnés

Vous devez être connecté pour sélectionner plusieurs modèles de données, les télécharger ou les analyser.

383 Résultats de recherche.
Pertinence Commentaire Plus récent Moins récent

dbGaP phs000021 Genome-Wide Association Study of Schizophrenia - Eligibility

- 29-01-25 - 9 Formulaires, 1 Groupe Item, 10 Eléments de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Pablo V. Gejman, MD, NorthShore University HealthSystem (NUH), Evanston, IL, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000021 The goal of the study is to find susceptibility genes for schizophrenia. *Dataset versioning* - Version 1: European-American (EA) ancestry only - Version 2: Version 1 plus African-American (AA) ancestry *Consent groups and participant set* - General research use (GRU): 4591 cases and controls (1217 EA cases, 1442 EA controls, 953 AA cases, 979 AA controls) This consent group includes a subset of schizophrenia cases and all controls (which overlap with Bipolar study controls in Bipolar: GRU dataset). - Schizophrenia and related disorders (SARC): 475 cases (187 EA cases, 288 AA cases) This consent group includes a subset of schizophrenia cases.

pht000067.v2.p2

1 Groupe Item 119 Eléments de données

pht000068.v1.p2

1 Groupe Item 38 Eléments de données

pht000069.v1.p2

1 Groupe Item 253 Eléments de données

pht000287.v1.p2

1 Groupe Item 253 Eléments de données

pht002001.v1.p2

1 Groupe Item 2 Eléments de données

pht002002.v1.p2

1 Groupe Item 2 Eléments de données

dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 27-11-24 - 6 Formulaires, 2 Groupes Item, 11 Eléments de données, 1 Langue
Groupes Item: IG.elig, IG.elig
Principal Investigator: Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA MeSH: Hypercholesterolemia,Asthma,Arthritis, Rheumatoid,Attention Deficit Disorder with Hyperactivity,Bipolar Disorder,Coronary Disease,Depression,Heart Failure,Inflammatory Bowel Diseases,Multiple Sclerosis,Schizophrenia,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000944 The Partners HealthCare Biobank is a large research data and sample repository working within the framework of Partners Personalized Medicine. It provides researchers access to high quality, consented samples to help foster research, advance understanding of the causes of common diseases, and advance the practice of medicine. The Partners Biobank provides banked samples (plasma, serum and DNA) collected from consented patients. These samples are available for distribution to Partners HealthCare investigators with appropriate approval from the Partners Institutional Review board (IRB). They are linked to clinical data that originates in the Electronic Medical Record (EMR), as well as additional health information collected in a self-reported survey. The Partners Biobank will be genotyping 25,000 subjects with the Illumina Multiethnic Beadchip 1.6 million SNPs with exome and custom content ( 60,000 LoFs). Of the participants genotyped so far, 4929 of 4962 (99.3%) individuals have genotype data that passed the default quality thresholds for the Infinium array (call rate = 0.99). We are submitting the genotype data to dbGaP for 4929 subjects with 12 phenotypes (based on icd9 codes). We will do annual releases until we reach the full 25,000 genotyped subjects.

pht004847.v1.p1

1 Groupe Item 5 Eléments de données

pht005288.v1.p1

1 Groupe Item 6 Eléments de données

pht004844.v1.p1

1 Groupe Item 2 Eléments de données

pht004845.v1.p1

1 Groupe Item 3 Eléments de données

pht004846.v1.p1

1 Groupe Item 18 Eléments de données

dbGaP phs000837 Whole Genome Sequencing of Two 22q11DS Trios - pht004442.v1.p1

- 09-03-24 - 6 Formulaires, 1 Groupe Item, 6 Eléments de données, 1 Langue
Groupe Item: pht004442
Principal Investigator: Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: Tetralogy of Fallot,Psychotic Disorders,Schizophrenia,Arthritis, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000837 Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.

pht004441.v1.p1

1 Groupe Item 6 Eléments de données

pht004440.v1.p1

1 Groupe Item 5 Eléments de données

Eligibility

1 Groupe Item 2 Eléments de données

pht004438.v1.p1

1 Groupe Item 5 Eléments de données

pht004439.v1.p1

1 Groupe Item 5 Eléments de données

dbGaP phs000959 Genomics of Schizophrenia in the South African Xhosa - pht009701.v1.p1

- 26-01-24 - 5 Formulaires, 1 Groupe Item, 2 Eléments de données, 1 Langue
Groupe Item: pht009701
Principal Investigator: Mary-Claire King, University of Washington, Seattle, WA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000959 The goal of this international collaborative project is to identify genes responsible for Schizophrenia in the Xhosa population of South Africa. The vast majority of the genetic basis for Schizophrenia has yet to be explained. We hypothesize that genes and pathways important to Schizophrenia will harbor different, severe disease-causing mutations in different affected individuals. Given the genetic diversity of African populations, we expect to find genes for Schizophrenia that have not yet emerged from studies of other populations. This project will also foster the development of gene discovery research for neuropsychiatric disorders in Africa. Our approach will identify genes important for the disorder in populations worldwide. These genes will stimulate future efforts to develop more effective treatment and prevention strategies.

pht009702.v1.p1

1 Groupe Item 3 Eléments de données

pht009703.v1.p1

1 Groupe Item 6 Eléments de données

Eligibility

1 Groupe Item 2 Eléments de données

pht009700.v1.p1

1 Groupe Item 2 Eléments de données

dbGaP phs000979 HBCC Postmortem Psychiatric Molecular Studies - pht005195.v2.p2

- 17-01-24 - 5 Formulaires, 1 Groupe Item, 20 Eléments de données, 1 Langue
Groupe Item: pht005195
Principal Investigator: Barbara K. Lipska, PhD, National Institutes of Health, Bethesda, MD, USA MeSH: Schizophrenia,Anxiety Disorders,Autism Spectrum Disorder,Bipolar Disorder,Control Groups,Feeding and Eating Disorders,Depressive Disorder, Major,Obsessive-Compulsive Disorder,Stress Disorders, Post-Traumatic,Tic Disorders,Williams Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000979 This postmortem study examines molecular, genetic and epigenetic signatures in the brains of hundreds of subjects with or without mental disorders conducted by the DIRP NIMH Human Brain Collection Core (HBCC). The brain tissues are obtained under protocols approved by the CNS IRB (NCT00001260), with the permission of the next-of-kin (NOK) through the Offices of the Chief Medical Examiners (MEOs) in the District of Columbia, Northern Virginia and Central Virginia. Additional samples were obtained from the University of Maryland Brain and Tissue Bank (contracts NO1-HD-4-3368 and NO1-HD-4-3383) (http://www.medschool.umaryland.edu/btbank/ and the Stanley Medical Research Institute (http://www.stanleyresearch.org/brain-research/). Clinical characterization, neuropathological screening, toxicological analyses, and dissections of various brain regions were performed as previously described (Lipska et al. 2006; PMID: 16997002). All patients met DSM-IV criteria for a lifetime Axis I diagnosis of psychiatric disorders including schizophrenia or schizoaffective disorder, bipolar disorder and major depression. Controls had no history of psychiatric diagnoses or addictions. *SNP array:* Array-based genotyping was performed on most samples published in this collection. The number of SNPs assayed via Illumina chips varied between 650,000 and 5 Million. Cerebellar tissue was generally used for genotyping studies. table width="481" border="1" tbody tr td width="64" align="center" strong#/strong /td td width="275" strongDiagnosis/strong /td td width="57" align="center" strongSNP Array/strong /td /tr tr td width="64" align="center"1/td td width="275"Anxiety Disorder/td td width="57" align="center"1/td /tr tr td width="64" align="center"2/td td width="275"Autism Spectrum Disorder/td td width="57" align="center"13/td /tr tr td width="64" align="center"3/td td width="275"Bipolar Disorder/td td width="57" align="center"114/td /tr tr td width="64" align="center"4/td td width="275"Control/td td width="57" align="center"387/td /tr tr td width="64" align="center"5/td td width="275"Eating Disorder (ED)/td td width="57" align="center"2/td /tr tr td width="64" align="center"6/td td width="275"Major Depressive Disorder (MDD)/td td width="57" align="center"186/td /tr tr td width="64" align="center"7/td td width="275"Obsessive Compulsive Disorder (OCD)/td td width="57" align="center"5/td /tr tr td width="64" align="center"8/td td width="275"Post-Traumatic Stress Disorder (PTSD)/td td width="57" align="center"0/td /tr tr td width="64" align="center"9/td td width="275"Schizophrenia/td td width="57" align="center"220/td /tr tr td width="64" align="center"10/td td width="275"Other/td td width="57" align="center"7/td /tr tr td width="64" align="center"11/td td width="275"Tic Disorder/td td width="57" align="center"3/td /tr tr td width="64" align="center"12/td td width="275"Undetermined/td td width="57" align="center"1/td /tr tr td width="64" align="center"13/td td width="275"Williams Syndrome/td td width="57" align="center"2/td /tr /tbody /table Table: *Numbers of samples in each diagnostic category*. DNA extraction: 45-80 mg of cerebellar tissue was pulverized for DNA extractions. The QIAamp DNA mini Kit (Qiagen) method was employed for tissue DNA extraction. The tissue was initially lysed using Tissue Lyser (Qiagen) and extractions were accomplished according to manufacturer's protocol. The DNA was captured in 500uL elution buffer. The concentrations were measured using Thermo Scientific's NanoDrop 1000/NanoDrop ONE. The mean yield was 128.85 uG (+/- 79.48), the mean ratio of 260/280 was 1.87 (+/- 0.105), and the mean ratio of 260/230 was 2.48 (+/-1.75). Genotyping methods: Three types of Illumina Beadarray chips were used: HumanHap650Y, Human1M-Duo, and HumanOmni5M-Quad (San Diego, California). The genotyping was done according to the manufacturer's protocol (Illumina Proprietary, Catalog # WG-901-5003, Part # 15025910 Rev.A, June 2011). Approximately, 400ng DNA was used and each DNA sample was QC tested for 260/280 ratio by nanodrop and DNA band intactness on 2% agarose gel. Briefly, the samples were whole-genome amplified, fragmented, precipitated and resuspended in appropriate hybridization buffer. Denatured samples were hybridized on prepared Bead Array Chips. After hybridization, the Bead Chip oligonucleotides were extended by a single fluorescent labeled base, which was detected by fluorescence imaging with an Illumina Bead Array Reader, iScan. Normalized bead intensity data obtained for each sample were loaded into the Illumina Genome Studio (Illumina, v.2.0.3) with cluster position files provided by Illumina, and fluorescence intensities were converted into SNP genotypes. *Microarray:* We generated RNA expression data using array technology for psychiatric subjects compared to non-psychiatric subjects as controls. We used tissues from three different brain regions i.e. hippocampus, dorsolateral prefrontal cortex (DLPFC), and dura mater for a large cohort of individuals (total number 552 subjects for hippocampus, 800 for DLPFC and 146 for dura). Total RNA was extracted from ~100 mg of tissue using the RNeasy kit (Qiagen) according to the manufacturer's protocol. RNA quality and quantity were examined using the Bioanalyzer (Agilent, Inc) and NanoDrop (Thermo Scientific, Inc), respectively. Samples with RNA integrity number (RIN) 5 were excluded. Affymetrix 3'IVT express kit protocols (Affymetrix, Inc. catalog#902416) were used to generate the Biotin labeled cRNAs. The Illumina hybridization cocktail containing 2 micrograms of biotin labeled cRNAs was hybridized to the Illumina HumanHT-12_V4 Beadchips. The chips were washed and stained using the standard Illumina protocols and reagents. The Illumina BeadChip Scanner was used to scan the arrays. Gene expression intensities were extracted using the Illumina GenomeStudioV2011.1 software. table width="481" border="1" tbody tr td width="64" align="center" strong#/strong /td td width="275" strongDiagnosis/strong /td td width="57" align="center" strongDLPFC/strong /td td width="47" align="center" strongHippo/strong /td td width="39" align="center" strongDura/strong /td /tr tr td width="64" align="center"1/td td width="275"Anxiety Disorder/td td width="57" align="center"1/td td width="47" align="center"0/td td width="39" align="center"0/td /tr tr td width="64" align="center"2/td td width="275"Autism Spectrum Disorder/td td width="57" align="center"14/td td width="47" align="center"6/td td width="39" align="center"0/td /tr tr td width="64" align="center"3/td td width="275"Bipolar Disorder/td td width="57" align="center"90/td td width="47" align="center"49/td td width="39" align="center"0/td /tr tr td width="64" align="center"4/td td width="275"Control/td td width="57" align="center"336/td td width="47" align="center"270/td td width="39" align="center"75/td /tr tr td width="64" align="center"5/td td width="275"Eating Disorder (ED)/td td width="57" align="center"2/td td width="47" align="center"1/td td width="39" align="center"0/td /tr tr td width="64" align="center"6/td td width="275"Major Depressive Disorder (MDD)/td td width="57" align="center"144/td td width="47" align="center"87/td td width="39" align="center"0/td /tr tr td width="64" align="center"7/td td width="275"Obsessive Compulsive Disorder (OCD)/td td width="57" align="center"5/td td width="47" align="center"3/td td width="39" align="center"0/td /tr tr td width="64" align="center"8/td td width="275"Post-Traumatic Stress Disorder (PTSD)/td td width="57" align="center"6/td td width="47" align="center"0/td td width="39" align="center"0/td /tr tr td width="64" align="center"9/td td width="275"Schizophrenia/td td width="57" align="center"192/td td width="47" align="center"125/td td width="39" align="center"71/td /tr tr td width="64" align="center"10/td td width="275"Other/td td width="57" align="center"5/td td width="47" align="center"6/td td width="39" align="center"0/td /tr tr td width="64" align="center"11/td td width="275"Tic Disorder/td td width="57" align="center"3/td td width="47" align="center"3/td td width="39" align="center"0/td /tr tr td width="64" align="center"12/td td width="275"Undetermined/td td width="57" align="center"1/td td width="47" align="center"1/td td width="39" align="center"0/td /tr tr td width="64" align="center"13/td td width="275"Williams Syndrome/td td width="57" align="center"2/td td width="47" align="center"1/td td width="39" align="center"0/td /tr /tbody /table Table: *Numbers of samples in each diagnostic category*. *RNA-Seq of Dorso-lateral prefrontal cortex:* All brains were collected and the dorsolateral prefrontal cortical (DLPFC) samples dissected at the HBCC, DIRP, NIMH. Dorsolateral prefrontal cortex (DLPFC) specimens were dissected from right or left hemisphere of frozen coronal slabs. The study was funded by the DIRP, NIMH under contract (#HHSN 271201400099C) with Icahn School of Medicine at Mount Sinai,1106402 One Gustave L. Levy Place, Box 3500, New York NY 10029,6574. RNA extraction, library preparation and sequencing were performed under contract at Icahn School of Medicine. The Common Mind Consortium (CMC) provided project management support. RNA isolation: Total RNA from 468 HBCC samples was isolated from approximately 100 mg homogenized tissue from each sample by TRIzol/chloroform extraction and purification with the Qiagen RNeasy kit (Cat#74106) according to manufacturer's protocol. Samples were processed in randomized batches of 12. The order of extraction for schizophrenia, bipolar, and MDD disorders and control samples was assigned randomly with respect to diagnosis and all other sample characteristics. The mean total RNA yield was 24.2 ug (+/- 9.0). The RNA Integrity Number (RIN) was determined by 4200 Agilent TapeStation System. Samples with RIN 5.5 were excluded from the study. Among the remaining samples the mean RIN was 7.5 (+/- 0.9) and the mean ratio of 260/280 was 2.0 (+/- 0.03). DLPFC RNA-Seq quantified expression data are provided for 364 samples. Data were generated, QC'd, processed and quantified as follows: RNA library preparation and sequencing: All samples submitted to the New York Genome Center for RNAseq were prepared for sequencing in randomized batches of 94. The sequencing libraries were prepared using the KAPA Stranded RNAseq Kit with RiboErase (KAPA Biosystems). rRNA was depleted from 1ug of RNA using the KAPA RiboErase protocol that is integrated into the KAPA Stranded RNAseq Kit. The insert size and DNA concentration of the sequencing library was determined on Fragment Analyzer Automated CE System (Advanced Analytical) and Quant-iT PicoGreen (ThermoFisher) respectively. table width="317" border="1" tbody tr td width="104" align="center" strongSchizophrenia/strong /td td width="67" align="center" strongBipolar/strong /td td width="68" align="center" strongControl/strong /td /tr tr td align="center"89/td td align="center"65/td td align="center"210/td /tr /tbody /table Table: *Numbers of samples in each diagnostic category*. *RNA-Seq of subgenual anterior cingulate cortex (sgACC):* All the 200 post-mortem brain samples (61 controls; 39 bipolar disorder; 46 schizophrenia; 54 major depressive disorder) were collected by the HBCC, DIRP, NIMH. RNA Extraction and Quality Assessment: Tissue from sgACC was pulverized and stored at -80°C. Total RNA was extracted from 50-80 mg of the tissue using QIAGEN RNeasy Lipid Tissue Mini Kit (QIAGEN, Cat. # 74804) with DNase treatment (QIAGEN, Cat. # 79254). The RNA Integrity Number (RIN) for each sample was assessed with high-resolution capillary electrophoresis on the Agilent Bioanalyzer 2100 (Agilent Technologies, Palo Alto, California). The concentration of RNA and their 260/280 ratio (2.1+/- 0.032 SD) were determined with NanoDrop (Thermo Scientific). RNA sequencing: Stranded RNA-Seq libraries were constructed after rRNA depletion using Ribo-Zero GOLD (Illumina). RNA sequencing was performed at National Institute of Health Intramural Sequencing Center (NISC). table width="317" border="1" tbody tr td width="104" align="center" strongSchizophrenia/strong /td td width="67" align="center" strongBipolar/strong /td td width="68" align="center" strongControl/strong /td td width="78" align="center" strongMDD/strong /td /tr tr td align="center"46/td td align="center"39/td td align="center"61/td td align="center"54/td /tr /tbody /table Table: *Numbers of samples in each diagnostic category*. *Whole Genome Sequencing:* All brains were collected and dissected at the HBCC, DIRP, NIMH. This study generates whole genome sequencing data using sequencing of DNA in the dorsolateral prefrontal cortex (DLPFC), anterior cingulate cortex (ACC) or cerebellum of 443 individuals with schizophrenia, bipolar disorder and major depressive disorder and non-psychiatric controls. The study was funded by the DIRP, NIMH under contract (#HHSN 271201400099C) with Icahn School of Medicine at Mount Sinai,1106402 One Gustave L. Levy Place, Box 3500, New York NY 10029,6574. DNA extraction, library preparation and sequencing were performed under contract at Icahn School of Medicine. The Common Mind Consortium (CMC) provided project management support. All specimens were dissected from right or left hemisphere of frozen coronal slabs. DNA Library Preparation and Sequencing: All samples submitted to the New York Genome Center for WGS were prepared for sequencing in randomized batches of 95. The sequencing libraries were prepared using the Illumina PCR-free DNA sample preparation Kit. The insert size and DNA concentration of the sequencing library was determined on Fragment Analyzer Automated CE System (Advanced Analytical) and Quant-iT PicoGreen (ThermoFisher) respectively. A quantitative PCR assay (KAPA), with primers specific to the adapter sequence, was used to determine the yield and efficiency of the adaptor ligation process. Performed on the Illumina HiSeqX with 30X coverage. table width="233" border="1" tbody tr td width="99" align="center" strongSchizophrenia/strong /td td width="67" align="center" strongBipolar/strong /td td width="68" align="center" strongControl/strong /td /tr tr td align="center" strong115/strong /td td align="center"78/td td align="center"230/td /tr /tbody /table Table: *Numbers of samples in each diagnostic category*. *ChIP-Seq:* All brains were collected and the dorsolateral prefrontal cortical (DLPFC) samples dissected at the HBCC, DIRP, NIMH. This study generates epigenetic data using sequencing of DNA after chromatin immunoprecipitation (ChIP-Seq) for marks H3K4me3 and H3K27ac in the dorsolateral prefrontal cortex (DLPFC). Dorsolateral prefrontal cortex (DLPFC) specimens were dissected from right or left hemisphere of frozen coronal slabs. The study was funded by the DIRP, NIMH under contract (#HHSN 271201400099C) with Icahn School of Medicine at Mount Sinai,1106402 One Gustave L. Levy Place, Box 3500, New York NY 10029,6574. Chromatin precipitation, library preparation and sequencing were performed under contract at Icahn School of Medicine. The Common Mind Consortium (CMC) provided project management support. Chromatin immunoprecipitation (ChIP) assays for histone marks H3K4me3 and H3K27ac were carried out using Native ChIP. Micrococcal Nuclease (MNase) (Sigma, N3755) treatment was used to digest chromatin into mononucleosomes. The following antibodies were used for chromatin pull-down: anti-H3K4me3 (Cell Signaling, Cat# 9751BC, lot 7) and anti-H3K27ac (Active Motif, Cat# 39133, Lot # 31814008). Histone modification-enriched genomic DNA fragments were recovered using Protein A/G magnetic beads (Thermo Scientific, 88803-88938 or Millipore 16-663), and then washed, eluted, and treated with RNAse A and proteinase K. Final ChIP DNA products were isolated using phenol-chloroform extraction followed by ethanol precipitation. The efficiency of each ChIP assay was validated using Qubit concentration measurement and qPCR for positive (GRIN2B, DARPP32) and negative (HBB) control genomic regions. Only ChIP assays that passed quality control were further processed for library preparation and sequencing; this included ChIP DNA that was not detectable on Qubit but showed a good signal and expected enrichment patterns in qPCR. table width="291" border="1" tbody tr td width="64" align="center" strong/strong /td td colspan="3" width="153" align="center" strongHISTONE_MARK/strong /td td width="73" align="center" strong/strong /td /tr tr td width="64" align="center" /td td colspan="2" width="77" align="center" strongH3K27ac/strong /td td width="77" align="center" strongH3K4me3/strong /td td width="73" align="center" strongInput/strong /td /tr tr td width="64" strongBipolar/strong /td td width="73" align="center"56/td td colspan="2" width="80" align="center"4/td td width="73" align="center" strong7/strong /td /tr tr td width="64" strongControl/strong /td td width="73" align="center"158/td td colspan="2" width="80" align="center"11/td td width="73" align="center"24/td /tr tr td width="64" strongSchizophrenia/strong /td td width="73" align="center"79/td td colspan="2" width="80" align="center"11/td td width="73" align="center"12/td /tr /tbody /table Table: *Numbers of individuals in each assay grouped by histone mark or input*.

Eligibility

1 Groupe Item 2 Eléments de données

pht005196.v3.p2

1 Groupe Item 7 Eléments de données

pht005193.v2.p2

1 Groupe Item 2 Eléments de données

pht005194.v3.p2

1 Groupe Item 2 Eléments de données

dbGaP phs001020 Genomic Psychiatry Cohort (GPC) Whole Genome Sequencing and Genotyping Study - pht005781.v2.p1

- 24-08-23 - 5 Formulaires, 1 Groupe Item, 2 Eléments de données, 1 Langue
Groupe Item: pht005781
Principal Investigator: Steven McCarroll, PhD, The Broad Institute of MIT and Harvard, Cambridge, MA, USA MeSH: Schizophrenia,Bipolar Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001020 The Center for Genomic Psychiatry at the University of Southern California (USC), SUNY Downstate and an extensive network of academic medical centers have created the Genomic Psychiatry Cohort (GPC). The GPC consists of a large clinical cohort of patients with schizophrenia, bipolar disorder, and healthy controls. The data generation of genotyping and whole genome sequencing of the GPC has been done in collaboration with the USC and the Broad Institute of MIT and Harvard. Genome-wide association studies are being performed with the samples to identify genetic risks for psychiatric disease. Genotyping is also being used to determine ancestry informative markers and replication of candidate genes. Whole genome sequencing identifies functional variants associated with disease risk.

pht005782.v2.p1

1 Groupe Item 2 Eléments de données

pht005783.v2.p1

1 Groupe Item 5 Eléments de données

pht005784.v2.p1

1 Groupe Item 7 Eléments de données

Eligibility

1 Groupe Item 1 Élément de données

dbGaP phs001196 Schizophrenia Trios from Taiwan - Eligibility

- 24-05-23 - 6 Formulaires, 1 Groupe Item, 8 Eléments de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Steven McCarroll, The Broad Institute of Harvard and MIT, MA, USA MeSH: Schizophrenia,Control Groups,Parents https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001196 The substantial reproductive impact of schizophrenia, for which affected individuals have fewer than half as many offspring as unaffected individuals do, implies that mutations of largest effect will frequently be de novo mutations. Ascertaining exome sequence variation in father-mother-offspring trios allows such mutations to be identified and distinguished from the far-larger amount of rare variation that is inherited by each individual. The pursuit of this approach in a large, well-powered cohort of trios can also provide lessons that inform the development of such gene discovery strategies more generally in human genetics. Schizophrenia trios from the Taiwanese population are being collected by Dr. Ming Tsuang (PI, UC San Diego, California) and investigators in Taiwan (PI, Dr. Hai Gwo Hwu; both funded by NIMH grant 1R01MH085560; Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan). A total of 3800 trios are anticipated to be collected by May 2013. This represents a highly homogenous national sample from the same ancestral population. DNA samples will be obtained from the NIMH Repository, Rutgers University Cell and DNA Repository (described below) and stored at the Broad Institute. Genetic and data analyses will be performed at the Broad Institute. We propose to sequence the whole exome of trios by hybrid capture and Illumina next generation sequencing and perform targeted genotyping and validation of variants (SNPs, indels and CNVs) using several molecular methods, to include emulsion-based PCR and Sanger sequencing.

pht005698.v1.p1

1 Groupe Item 3 Eléments de données

pht005699.v1.p1

1 Groupe Item 5 Eléments de données

pht005700.v1.p1

1 Groupe Item 5 Eléments de données

pht005701.v1.p1

1 Groupe Item 5 Eléments de données

pht007727.v1.p1

1 Groupe Item 6 Eléments de données

dbGaP phs000682 Genetics of Neuropsychiatric and Neurodevelopmental Disorders - Eligibility

- 24-01-23 - 6 Formulaires, 1 Groupe Item, 15 Eléments de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: David Goldstein, PhD, Duke University, Durham, NC, USA MeSH: Schizophrenia,Schizoaffective disorder,Attention Deficit Hyperactivity Disorder,Seizures,Oppositional defiant disorder,Anxiety,Depression,Autism,Autism Spectrum Disorders,Bipolar Disorder,Developmental Disabilities,Ataxia,Migraine,Paranoid schizophrenia,Obsessive compulsive disorder,Kluver-Bucy syndrome,Intellectual disability https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000682 Although schizophrenia is a highly heritable disease, relatively little progress had been made in securely identifying the genetic causes of this disorder, and most instances of schizophrenia in the general population remain unexplained. One avenue of explanation for the genetic basis of schizophrenia, however, has been effectively closed by recent research. Genome-wide association studies (GWAS) have now shown that common variation makes at most a modest contribution to the risk of schizophrenia. At the same time that the role of common variation has been circumscribed by GWAS, however, the analysis of copy number variants that are detectable on a genome-wide scale has revealed and replicated a number of very rare variants that associate with schizophrenia. These rare copy number variants that have been implicated in schizophrenia, however, have one striking feature in common: they are all risk factors for other brain related disorders beyond schizophrenia such as mental retardation, autism and epilepsy. These findings argue that genetic risk factors may confer a highly penetrant vulnerability to neuropsychiatric disorder, which is then further modified by interacting genetic or environmental factors to determine the ultimate manifestation. Most schizophrenia collections that are being studied today, however, have been selected precisely for their homogeneity: including only schizophrenia patients with no comorbidities, or schizophrenia patients with relatives who have schizophrenia but no other neuropsychiatric conditions. These selection criteria are inconsistent with what we now know about the bulk of the genetic differences that have been associated with disease. The central hypothesis of this project is that there are rare genetic variants that strongly elevate the risk of various neuropsychiatric diseases, and that these risk factors can be identified most readily in families segregating multiple neuropsychiatric conditions.

pht003594.v1.p1

1 Groupe Item 5 Eléments de données

pht003595.v1.p1

1 Groupe Item 6 Eléments de données

pht003596.v1.p1

1 Groupe Item 5 Eléments de données

pht003597.v1.p1

1 Groupe Item 5 Eléments de données

pht003598.v1.p1

1 Groupe Item 3 Eléments de données

dbGaP phs000687 Bulgarian Schizophrenia Trio Sequencing Study - Eligibility

- 10-01-23 - 6 Formulaires, 1 Groupe Item, 2 Eléments de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000687 The primary aim of this study is to whole exome sequence complete Bulgarian trios to identify de novo mutations in schizophrenic probands. We are investigating the rate of de novo mutations in probands as well as looking for enrichment among previously implicated genes and synaptic gene sets.

pht003693.v1.p1

1 Groupe Item 5 Eléments de données

pht003692.v1.p1

1 Groupe Item 3 Eléments de données

pht003695.v1.p1

1 Groupe Item 6 Eléments de données

pht003696.v1.p1

1 Groupe Item 5 Eléments de données

pht003694.v1.p1

1 Groupe Item 5 Eléments de données

dbGaP phs000738 Exome Sequencing in Schizophrenia Families - Eligibility

- 27-12-22 - 6 Formulaires, 1 Groupe Item, 2 Eléments de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Mary-Claire King, University of Washington, Seattle, WA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000738 Schizophrenia is a complex neuropsychiatric disorder characterized by marked genetic heterogeneity. Much of the genetic architecture of the disorder has yet to be explained, but *de novo* mutations appear to play an important role. We used exome sequencing of parent-offspring quads and trios to detect *de novo* mutations in persons with schizophrenia. Patients were more likely to harbor one or more damaging *de novo* mutations, as compared to their healthy siblings. The genes disrupted by damaging mutations in patients operated in processes important to early brain development.

pht003833.v1.p1

1 Groupe Item 5 Eléments de données

pht003834.v1.p1

1 Groupe Item 5 Eléments de données

pht003835.v1.p1

1 Groupe Item 5 Eléments de données

pht003837.v1.p1

1 Groupe Item 5 Eléments de données

pht003836.v1.p1

1 Groupe Item 3 Eléments de données

dbGaP phs000448 Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort - Eligibility

- 13-12-22 - 5 Formulaires, 1 Groupe Item, 1 Élément de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Todd Lencz, PhD, Feinstein Institute for Medical Research, North Shore - LIJ Health System, Manhasset, NY, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000448 Schizophrenia is characterized by high heritability (~80%), yet the identification of susceptibility genes has proven extremely challenging. The Ashkenazi Jewish population, derived from a limited number of founders, may be enriched for a subset of susceptibility alleles, which may also have higher odds ratios than those detected by previous studies. GWAS was conducted in a large Ashkenazi case-control cohort, derived from the Hebrew University Genetic Resource, using the Illumina HumanOmni1-Quad BeadChip.

pht002508.v1.p1

1 Groupe Item 5 Eléments de données

pht002509.v1.p1

1 Groupe Item 5 Eléments de données

pht002510.v1.p1

1 Groupe Item 8 Eléments de données

pht002511.v1.p1

1 Groupe Item 3 Eléments de données

dbGaP phs000473 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing - pht002597.v2.p2

- 13-12-22 - 5 Formulaires, 1 Groupe Item, 3 Eléments de données, 1 Langue
Groupe Item: pht002597
Principal Investigator: Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000473 Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polygenic model displaying the full spectrum of causal alleles that includes the extremes of rare, penetrant alleles as well as common alleles of small effect. Lower frequency polymorphism, rare variants and private mutations have eluded measurement by GWAS studies and thus association with disease. In order to create a comprehensive catalogue of low frequency or rare coding variation in individuals with psychiatric disease and to build a foundation for future genetic studies of schizophrenia and bipolar disorder, we have obtained whole exome DNA sequence from a population-based schizophrenia and bipolar disorder Swedish case-control cohort.

pht002599.v2.p2

1 Groupe Item 5 Eléments de données

pht002600.v2.p2

1 Groupe Item 6 Eléments de données

pht002601.v2.p2

1 Groupe Item 5 Eléments de données

Eligibility

1 Groupe Item 1 Élément de données

Aide

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial