ID
46126
Description
Principal Investigator: Richard M. Myers, PhD, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA MeSH: Intellectual disability,Ataxia,Autism Spectrum Disorder,Autoimmune Diseases,Congenital Abnormalities,Craniofacial Abnormalities,Epilepsy,Eye Abnormalities,Failure to Thrive,Gastrointestinal Diseases,Growth Disorders,Heart Defects, Congenital,Megalencephaly,Microcephaly,Muscular Diseases,Nervous System Disease,Problem Behavior,Seizures,Stereotypic Movement Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001089 The overarching goal of this project is to explore the ability for whole exome and genome sequencing technologies to identify the genetic causes of unexplained developmental delay, intellectual disability (DD/ID), and related congenital anomalies in children. Such information may be useful as an endpoint to the otherwise fruitless "diagnostic odyssey" that many DD/ID affected families undergo and in some cases, identification of these genetic variants may point to better therapeutic or educational options by precisely defining the root cause(s) of the child's condition. We seek to identify causal, diagnostically relevant, genetic variants in children with developmental delay and/or intellectual disability (DD/ID). In addition, because our analytical approach includes sequencing probands and their parents (parent-offspring trios and duos; parents are sequenced when available), secondary findings will be returned to adults (parents) at their request. The aims of this research project include: 1) Use exome and whole genome sequencing to identify genetic variation that results in DD/ID. 2) Return primary genetic results (DD/ID causative) as well as secondary findings to probands and their parents, respectively. 3) Understand how the return of genomic test results affects the health and well-being of study participants. The children participating in this study are patients at, or referrals to, North Alabama Children's Specialist (NACS) in Huntsville, Alabama. All blood samples from probands and their parents will be collected at NACS (project 1). Sequencing will be completed at the HudsonAlpha Institute for Biotechnology, with validation (via Sanger sequencing) conducted at Emory University for all returned variants (project 2). The University of Louisville will oversee questionnaires, surveys and interviews aimed at understanding study participants' perception of, and response to, genetic test results, in addition to assessment of secondary findings preferences (project 3). A subset of variants, largely those determined to be diagnostic or variants of uncertain significance for study participants at the time of disclosure, have been submitted to ClinVar. These variants are listed as part of the "CSER-HudsonAlpha" study within the database.
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- 11/11/24 11/11/24 - Dr. Christian Niklas
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Richard M. Myers, PhD, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
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11 novembre 2024
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Creative Commons BY 4.0
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dbGaP phs001089 HudsonAlpha Institute for Biotechnology Clinical Sequencing Exploratory Research (CSER): Genomic Diagnosis in Children with Developmental Delay
Eligibility Criteria
- StudyEvent: Genomic Diagnosis in Children with Developmental Delay
- Eligibility Criteria
- This subject consent data table includes subject IDs, consent group information, and subject's sex.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subject's sex, and monozygotic twin IDs.
- 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.
- This subject phenotypes data table includes subject's affection status for developmental delay and/or intellectual diasbility, age, height, weight, race, ethnic groups, and the absence and presence of the phenotypes: ataxia, auditory, autism spectrum disorder, brain malformation, congenital heart malformation, craniofacial, facial dysmorphism, failure to thrive, gastrointestinal, growth retardation, hypertonia, hypotonia, intellectual disability (moderate), intellectual disability (severe), macrocephaly, microcephaly, muscle weakness, opthalmologic, seizures, skeletal/limb abnormalities, speech delay, and stereotypic behaviors.
- This sample attributes data table includes analyte type, sequencing and validation centers.
Similar models
Eligibility Criteria
- StudyEvent: Genomic Diagnosis in Children with Developmental Delay
- Eligibility Criteria
- This subject consent data table includes subject IDs, consent group information, and subject's sex.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subject's sex, and monozygotic twin IDs.
- 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.
- This subject phenotypes data table includes subject's affection status for developmental delay and/or intellectual diasbility, age, height, weight, race, ethnic groups, and the absence and presence of the phenotypes: ataxia, auditory, autism spectrum disorder, brain malformation, congenital heart malformation, craniofacial, facial dysmorphism, failure to thrive, gastrointestinal, growth retardation, hypertonia, hypotonia, intellectual disability (moderate), intellectual disability (severe), macrocephaly, microcephaly, muscle weakness, opthalmologic, seizures, skeletal/limb abnormalities, speech delay, and stereotypic behaviors.
- This sample attributes data table includes analyte type, sequencing and validation centers.
C0030551 (UMLS CUI [1,2])
C1274041 (UMLS CUI [1,3])
C0679560 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,2])
C1274041 (UMLS CUI [1,3])
C0376245 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,2])
C1274041 (UMLS CUI [1,3])
C3714756 (UMLS CUI [1,2])
C0558080 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C1274041 (UMLS CUI [1,4])
C0011900 (UMLS CUI [1,2])
C0008626 (UMLS CUI [1,3])
C0743662 (UMLS CUI [1,4])