ID
45668
Beschreibung
Principal Investigator: Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA MeSH: Cerebellar hypoplasia,Lissencephaly,Microcephaly,Agenesis of corpus callosum,Pontocerebellar hypoplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001267 The purpose of this study is to identify new genetic causes of recessive forms of pediatric neurodevelopmental disorders (NDDs) including Cerebellar hypoplasia (CBH), Lissencephaly (LIS), Microcephaly (MIC), Corpus callosum hypoplasia (CCH), Pontocerebellar hypoplasia (PCH), Pontine tegemental cap dysplasia (PTCD), and Aicardi syndrome among many others. Using whole exome sequencing on one or two affected members per family, we are able to identify many pathogenic genes for these families. Using Human SNP Linkage Scans, which takes advantage of the Illumina HumanCore Array, and parametric linkage analysis software (Genehunter, Allegro, and others), we seek to identify pathogenic loci utilizing 60-70 families per year. Through the combination of parametric linkage analysis with exome sequencing and bioinformatics approaches, we will refine our search for superior sensitivity and accuracy when investigating candidate genes and identifying causative mutations for disease.
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Stichworte
Versionen (1)
- 02.04.23 02.04.23 - Simon Heim
Rechteinhaber
Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA
Hochgeladen am
2. April 2023
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs001267 CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, affection status, and consent group of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, family ID, father ID, mother ID, monozygous twins, and sex of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, affection status, race, and sex of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Sample ID, analyte type, histological type of sample, and tumor status of samples obtained from participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, affection status, and consent group of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, family ID, father ID, mother ID, monozygous twins, and sex of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Subject ID, affection status, race, and sex of participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
- Sample ID, analyte type, histological type of sample, and tumor status of samples obtained from participants with or without recessive pediatric brain diseases and involved in the "CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2" project.
C0680251 (UMLS CUI [1,2])
C1706256 (UMLS CUI [1,2])
C4022738 (UMLS CUI [1,3])
C0439660 (UMLS CUI [1,4])
C1385132 (UMLS CUI [1,5])
C0431399 (UMLS CUI [1,6])
C2034534 (UMLS CUI [1,7])
C5142998 (UMLS CUI [1,8])
C0086282 (UMLS CUI [1,9])
C0522476 (UMLS CUI [1,10])
C0680251 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C1518422 (UMLS CUI [2,3])
C0019247 (UMLS CUI [2,4])
C2828394 (UMLS CUI [2,5])
C0178795 (UMLS CUI [2,6])
C1457869 (UMLS CUI [2,7])
C0014412 (UMLS CUI [2,8])
C4022738 (UMLS CUI [2,9])