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Whole-transcriptome RNA sequencing-based biomarker screening and human-mouse cross-species conserved target analysis for cerebral palsy_Rattus norvegicus_miRNAseq

ABSTRACT: Cerebral Palsy (CP) is a group of neurodevelopmental disorders characterized by persistent motor and posture impairments. Its molecular mechanisms remain poorly understood, and there is a lack of reliable blood-based biomarkers.

ORGANISM(S): Rattus norvegicus

PROVIDER: GSE330445 | GEO | 2026/05/08

REPOSITORIES: GEO

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Whole-transcriptome RNA sequencing-based biomarker screening and human-mouse cross-species conserved target analysis for cerebral palsy_Homo sapiens_miRNAseq

Project description:Cerebral Palsy (CP) is a group of neurodevelopmental disorders characterized by persistent motor and posture impairments. Its molecular mechanisms remain poorly understood, and there is a lack of reliable blood-based biomarkers.

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Project description:Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of etiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (~1% rate in controls). In four children, large chromosomal abnormalities deemed pathogenic were found, and they were significantly more likely to have severe neuro-motor impairments than those CP subjects without such alterations. Overall the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families. Dr. Maryam Oskoui* , Mr. Matthew Gazzellone* , Ms. Bhooma Thiruvahindrapuram , Dr. Mehdi Zarrei , Dr. John Andersen , Dr. John Wei , Dr. Zhouzhi Wang , Dr. Richard Wintle , Dr. Christian Marshall , Dr. Ronald Cohn , Dr. Rosanna Weksberg , Dr. James Stavropoulos , Dr. Darcy Fehlings , Dr. Michael Shevell, Dr. Stephen Scherer. Clinically Relevant Copy Number Variations Detected in Cerebral Palsy. Nature Communications, 2015. Following our rigorous quality control procedure, we successfully genotyped 147 proband samples from individuals with cerebral palsy (81 males and 66 females) and 282 samples obtained from parents (134 males and 148 females). This facilitated the identification of de novo and rare inherited copy number variations of clinical interest.

2015-07-28 | E-GEOD-70374 | biostudies-arrayexpress

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Project description:Cerebral palsy (CP), a prevalent non-progressive neurological disorder in children, lacks reliable biomarkers for early diagnosis, and its molecular mechanisms remain poorly understood. In this study, we conducted serum proteomic profiling of 346 CP patients and 190 healthy controls and developed a 10-protein multi-marker panel for application in diagnosis of CP.

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Project description:Cerebral palsy (CP) is a spectrum of non-progressive motor disorders caused by brain injury during fetal or postnatal periods. Current diagnosis of CP mainly relies on neuroimaging and motor assessment, and we aimed to explore novel biomarkers for CP diagnosis in the present study. Blood plasma from five CP children and their healthy twin brothers/sisters was analyzed by gene microarray to screen out differential expressed circular RNAs (circRNAs).

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Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

Project description:Cerebral palsy (CP) is a permanent, non-progressive brain injury leading to movement and posture disorders. It can involve comorbidities, including other neurodevelopmental disorders (NDD). Genomic studies, focused mainly on the role of copy number variations (CNVs) identified using whole genome microarrays, and rare single nucleotide variants (SNVs) and insertions/deletions (indels) from exome sequencing, have shown that genomic changes have increasingly been found to play a role in etiology of CP and other NDDs. We applied Whole Genome Sequencing (WGS) to uncover a more complete landscape of genetic variations in both nuclear and mitochondrial DNA (CNVs, structural variations (SVs), SNVs, indels, tandem repeat (TR) variations, and mitochondrial DNA (mtDNA) variations) on a representative sample of individuals with CP recruited from CP-NET (Ontario) and the Canadian CP Registry. The cohort included 308 complete trio and four quartet families.

| EGAS00001006724 | EGA

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