A5076129434- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Chromatin Remodeling and Cancer
- Cancer-related gene regulation
- Congenital Ear and Nasal Anomalies
- Epigenetics and DNA Methylation
- Adolescent and Pediatric Healthcare
- Mycobacterium research and diagnosis
- Genetics and Neurodevelopmental Disorders
- T-cell and B-cell Immunology
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Immunodeficiency and Autoimmune Disorders
- Metalloenzymes and iron-sulfur proteins
- Delphi Technique in Research
- RNA modifications and cancer
Children's Hospital of Eastern Ontario
2015-2024
University of Ottawa
2024
Newborn Screening Ontario
2024
London Health Sciences Centre
2020
Western University
2020
<h3>Background</h3> A homozygous loss-of-function mutation p.(Arg316Gln) in the <i>fat mass and obesity-associated</i> (<i>FTO</i>) gene, which encodes for an iron 2-oxoglutarate-dependent oxygenase, was previously identified a large family nine affected individuals present with lethal syndrome characterised by growth retardation multiple malformations. To date, no other pathogenic <i>FTO</i> has been as cause of congenital <h3>Methods</h3> We investigated 21-month-old girl who presented...
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence improve health outcomes for children with inherited metabolic diseases (IMD). We describe the development our clinical data collection platform, discuss quality management plan, present findings date from assessment, highlighting key lessons that can serve as resource future...
First-tier genetic investigations for patients with neurodevelopmental disorders (NDDs) may include chromosomal microarray, Fragile X testing, and screening inherited metabolic diseases, but most remain undiagnosed upon completion of testing. Here, we report the diagnostic yields testing 537 at least one autism spectrum disorder, global developmental delay, and/or intellectual disability. Patients were assessed in a single genetics clinic, each underwent standardized history physical...
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of 7p arm or have an additional copy number variation. Here, we report five patients overlapping microdeletions at 7p22.3p22.2. The presented variable developmental delays, exhibiting relative weaknesses expressive language skills and strengths gross, fine motor skills. most consistent facial features seen these included broad nasal root,...
Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant NFS1 has been previously reported to cause infantile complex II III deficiency. We describe three additional unrelated patients with same missense variant. Two infants homozygous presented hypotonia, weakness lactic acidosis, one patient compound heterozygous p.(Arg412His) variants as a...
Background Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content the cells, tissues, organ systems, leading to symptoms related energy deficits. Deficiency of mitochondrial succinyl-CoA ligase/synthetase enzyme secondary pathogenic variations SUCLG1 SUCLA2 genes is subtype MDDS that presents with neurological manifestations specific biochemical profile. Methods This cross-sectional series describes...
Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed assess the feasibility prospective these outcomes during routine metabolic clinic visits. Methods We used existing cohort data abstracted from charts 124 children diagnosed with MCAD deficiency who participated in...
Family-centered care is a concept that engages children and families as integral members of health teams marker high-quality systems. There limited evidence about the specific aspects positive or negative experiences with healthcare are most important to rare inherited metabolic diseases (IMDs) their families. Understanding family perspectives these for identifying gaps in could be targeted improvement.