ID
45298
Description
Principal Investigator: Christopher A. Walsh, Boston Children's Hospital, Division of Genetics and Genomics, Boston, MA, USA MeSH: Microcephaly,Polymicrogyria,Polymicrogyria, bilateral perisylvian,Pachygyria, frontotemporal,Bilateral periventricular nodular heterotopia,Familial Nodular Heterotopia,Cobblestone lissencephaly,Cerebellar Ataxia,Agenesis of corpus callosum,Epilepsy, Familial Tonic Clonic,Intellectual disability,Abnormalities, Congenital, Nervous System,Dysmorphism Multiple Structural Anomalies,Microcephaly-Micromelia Syndrome,Perisylvian Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000492 Developmental brain malformations are at the core of significant neurological diseases affecting many families in the United States and around the world. It is known that epilepsy, specific learning deficits and intellectual disability, cerebral palsy, and abnormalities of brain volume can be attributed in many cases to pathological malformations of the cerebral cortex. Although these consequences, such as epilepsy and intellectual disability, might appear broadly in the population as due to complex traits, this study's focus on those associated with cortical malformations highlights individual developmental pathways likely represented by innumerable and rare Mendelian alleles. Research has thus far uncovered dozens of genes responsible for these conditions and dissected the mechanisms underlying early cortical development in animals. However, this progress represents only the dawn of understanding the complex genetic network and neuronal architecture of the uniquely human cerebral cortex. The overall goal of this study is to define the genetic bases of human cerebral cortical development. This is accomplished through (1) the ascertainment of families with disorders of human brain development and malformation, (2) categorizing these using medical, physical and neuroimaging data, and (3) mapping and identifying the gene causing the disorder of cortical development, which can then be investigated for its normal expression and function, and role in human disease.
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Keywords
Versions (2)
- 10/15/22 10/15/22 - Chiara Middel
- 10/17/22 10/17/22 - Dr. Christian Niklas
Copyright Holder
Christopher A. Walsh, Boston Children's Hospital, Division of Genetics and Genomics, Boston, MA, USA
Uploaded on
October 17, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000492 Genetics of Human Developmental Brain Disorders
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and affection status for developmental brain malformations.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subject's sex and affection status.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, and type of sample preservation prior to DNA or RNA extraction.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- The sample trace mapping data table includes a mapping of sample IDs to corresponding NCBI Trace accessions.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and affection status for developmental brain malformations.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subject's sex and affection status.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, and type of sample preservation prior to DNA or RNA extraction.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- The sample trace mapping data table includes a mapping of sample IDs to corresponding NCBI Trace accessions.
C0266449 (UMLS CUI [1,2])
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C3714756 (UMLS CUI [1,4])
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C0522477 (UMLS CUI [2,3])
C1512693 (UMLS CUI [3,1])
C3641650 (UMLS CUI [3,2])
C0079399 (UMLS CUI [3,3])
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C0034510 (UMLS CUI [3,5])
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C0332148 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
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C1314792 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0266449 (UMLS CUI [2,3])
C3714756 (UMLS CUI [2,4])