ID
45200
Descripción
Principal Investigator: Joseph G. Gleeson, MD, University of California, San Diego, CA, and Department of Neuroscience, Howard Hughes Medical Institute, USA MeSH: Joubert syndrome 1,Developmental Delay Disorders,Cerebellar Ataxias,COACH syndrome,Polycystic Kidney, Autosomal Recessive,Spastic Paraplegia, Hereditary,Walker-Warburg Syndrome,Mental Retardation,Leber Congenital Amaurosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000382 The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndrome is a recessive disease characterized by cerebellar vermis hypoplasia. Our currently funded NINDS award entitled "Molecular characterization of Joubert syndrome" seeks to identify new genetic causes through a variety of molecular strategies. Although our previous strategies involved whole genome SNP-scans, followed by candidate gene sequencing to arrive at identification of new JS causes, we have recently moved to Whole Exome Sequencing (WES) as a highly efficient methodology that is optimized for recessive disease. In this pilot project, CIDR has sequenced DNA on probands from 20 inbred families with JS spectrum disorders in which known causes have been excluded, that have not previously undergone genome-wide SNP scans. These paired end reads will be subject to our established bioinformatics pipeline including HOMOZGYOSITY, SNP and INDEL callers in our lab to identify potentially deleterious sequence changes (PDSC). This is followed by analysis to include testing each PDSC for segregation in the whole pedigree, for occurrence in a ethnically-matched cohort, as well as a defined patient cohort patients, in order to validate new NDD genes.
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Versiones (2)
- 18/8/22 18/8/22 - Simon Heim
- 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor
Joseph G. Gleeson, MD, University of California, San Diego, CA, and Department of Neuroscience, Howard Hughes Medical Institute, USA
Subido en
12 de octubre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000382 CIDR Whole Exome Sequencing in Joubert Syndrome
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Subject ID, sample ID, and sample use variable obtained from subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Subject ID, gender, age, disease onset age, ethnicity, birth place, and first- cousin marriage of parents of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Sample ID, analyte type, body site where sample was obtained, and tumor status of samples obtained from subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Subject ID, sample ID, and sample use variable obtained from subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Subject ID, gender, age, disease onset age, ethnicity, birth place, and first- cousin marriage of parents of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
- Sample ID, analyte type, body site where sample was obtained, and tumor status of samples obtained from subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.
C0478157 (UMLS CUI [1,2])
C1387037 (UMLS CUI [1,3])
C2598510 (UMLS CUI [1,4])
C5142998 (UMLS CUI [1,5])
C0086282 (UMLS CUI [1,6])
C0680251 (UMLS CUI [2,1])
C0332148 (UMLS CUI [2,2])
C2984077 (UMLS CUI [2,3])
C0314603 (UMLS CUI [2,4])
C0524851 (UMLS CUI [2,5])
C0314603 (UMLS CUI [2,6])
C0085978 (UMLS CUI [2,7])
C0205309 (UMLS CUI [2,8])