Lia D’Abate
A5060317258- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Barrier Structure and Function Studies
- Neurogenesis and neuroplasticity mechanisms
- MicroRNA in disease regulation
- Caveolin-1 and cellular processes
- Mitochondrial Function and Pathology
- Circular RNAs in diseases
- RNA regulation and disease
- RNA Research and Splicing
Hospital for Sick Children
2015-2025
Roche (Switzerland)
2024
SickKids Foundation
2016-2023
University of Toronto
2018-2023
Mount Allison University
2011
The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group children ASD determine the diagnostic yield these sample typical developmental pediatric clinic.The consisted 258 consecutively ascertained unrelated who underwent detailed assessments define morphology scores based on presence major congenital...
De novo mutations (DNMs) are important in Autism Spectrum Disorder (ASD), but so far analyses have mainly been on the ~1.5% of genome encoding genes. Here, we performed whole sequencing (WGS) 200 ASD parent-child trios and characterized germline somatic DNMs. We confirmed that majority DNMs (75.6%) originated from father, these increased significantly with paternal age only (p=4.2×10-10). However, when clustered (those within 20kb) were found ASD, not did they mostly originate mother...
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, intellectual disability; however, the mechanisms underlying pathogenesis of remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome transcriptome), a mouse model syntenic heterozygous...
BackgroundThe Xp22.11 locus that encompasses PTCHD1, DDX53, and the long noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum disorder (ASD), but functional consequences of these genetic risk factors for ASD are unknown.MethodsTo evaluate PTCHD1 deletions, we generated induced pluripotent stem cells (iPSCs) from unaffected control 3 microdeletions affecting PTCHD1-AS/PTCHD1, PTCHD1-AS/DDX53, or alone. Function iPSC-derived cortical neurons was assessed using...
<title>Abstract</title> There are ~100 genes or copy number variants (CNVs) used in genetic testing for Autism Spectrum Disorder (ASD, autism). These protein-coding, and the associated phenotypes often extend beyond socio-behavioral traits seen autism including cognitive/medical complexities, epilepsy, ADHD. Here, we characterize 27 males with ASD through whole genome sequencing (WGS), delineating X-chromosome microdeletions that implicate long non-coding RNA (lncRNA)...
Significant genetic, behavioural and neuroanatomic heterogeneity is common in autism spectrum- related- neurodevelopmental disorders (NDDs). This constrains the development of effective therapies for diverse patients precision medicine paradigms. has led to search subgroups individuals having etiologic factors/biology (e.g., genetic pathways), thus creating potential uniformity prognosis and/or treatment response. Despite NDDs a strong component, only ~15-20% will present with specific rare...
Abstract A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of dosage effects neurodevelopmental disorders prompted us develop computational approach based on critical-exon (highly expressed brain, highly conserved) examination for potential etiologic effects. Using large CNV dataset, our updated analyses revealed significant (P < 1.64 × 10 −15 ) enrichment critical-exons...
Abstract Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families a child ASD. Here, we describe clinical microarray findings 253 longitudinally phenotyped ASD from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed and 54 (18.8%) developing atypically. Thirteen have copy number variants (CNVs) involving ASD-relevant genes: 6 ASD, 5...
To investigate age-related intrinsic regulation of the capacity human fetal oligodendrocyte progenitor cells (OPCs) to myelinate, potential OPCs were selected from 15- 23-gestational-week (gw) brain tissue based on expression gangliosides--recognized with monoclonal antibody A2B5, which detects multipotent including OPCs--or platelet-derived growth factor receptor α (PDGFRα), an early marker oligodendroglial lineage. Cells either cultured alone or cocultured rat dorsal root ganglia neurons...
Background We present genomic and phenotypic findings of a transgenerational family consisting three male offspring, each with maternally inherited distal 220 kb deletion at locus 16p11.2 (BP2–BP3). Genomic analysis all members was prompted by diagnosis autism spectrum disorder (ASD) in the eldest child, who also presented low body mass index. Methods All offspring underwent extensive neuropsychiatric evaluation. Both parents were assessed for social functioning cognition. The whole-genome...
Summary Transferrin receptor in brain endothelial cells can deliver therapeutic antibodies to the via transcytosis across blood-brain barrier. Whether transport remains intact Alzheimer’s disease is still a major open question. Here, we investigated whether apolipoprotein E4 (ApoE4), genetic risk factor for disease, altered intracellular human cells. To achieve this, first developed an optimized protocol induced pluripotent stem based on defined c hemical cocktail and e xtracellular-matrix...
Abstract Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows detection of all types variants. With aim generating an unprecedented resource for resolving genomic architecture underlying ASD, we analyzed genome sequences and phenotypic data from 5,100 individuals with ASD 6,212 additional parents siblings (total n=11,312) Speaks MSSNG Project, as well other WGS cohorts. autism phenotyping were...