A5067621969- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Health Systems, Economic Evaluations, Quality of Life
- Hereditary Neurological Disorders
- Genetic factors in colorectal cancer
- Glioma Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- Statistical Methods in Clinical Trials
- Neurological diseases and metabolism
- Childhood Cancer Survivors' Quality of Life
- Hemoglobinopathies and Related Disorders
- Cardiomyopathy and Myosin Studies
- Health and Medical Research Impacts
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Genetics and Neurodevelopmental Disorders
- Cancer, Hypoxia, and Metabolism
- Genetic diversity and population structure
- Congenital heart defects research
- MicroRNA in disease regulation
- Cardiac electrophysiology and arrhythmias
- CRISPR and Genetic Engineering
Hospital for Sick Children
2022-2025
University of Toronto
2022-2025
SickKids Foundation
2022-2025
University College London
2024
Great Ormond Street Hospital
2024
Dalhousie University
2013-2022
University of Oxford
2016-2020
John Radcliffe Hospital
2017
Retinal detachment with avascularity of the peripheral retina, typically associated familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well dysplasia, mental retardation (CDMMR). Ophthalmologists should be aware range presentations for KIF11 because phenotypic distinction between FEVR MLCRD/CDMMR portends management implications patients these conditions.To...
PurposeApproaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through 100,000 Genomes Project, which offers participants feedback of limited findings.MethodsIn Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members explore perspectives on findings.ResultsWhile enthusiastic about for diagnosing rare disease,...
A comprehensive review and description of the clinical features that impact prognosis for patients with diffuse hemispheric glioma, H3 G34-mutant (G34-DHG) is needed. Understanding survival prognostic paramount advancements patient care.
With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results—including secondary findings (SF)—are returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views stakeholders be considered—including participants who have made decisions about SF since wider debate began. We conducted semi-structured interviews with sixteen rare disease patients parents...
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part routine clinical care in mainstream medicine. Effective translation will require ongoing efforts a number areas including: selection appropriate patients, provision effective consent, pre- post-test counselling, improving variant interpretation algorithms practices, management secondary findings including those found incidentally actively sought....
Purpose: To investigate the gene variant spectrum in patients with familial exudative vitreoretinopathy (FEVR). Methods: Probands clinically diagnosed FEVR and their relatives were enrolled clinical information DNA collected. An expanded panel was used, including six recognized genes (FZD4, NDP, LRP5, TSPAN12, ZNF408, CTNNB1) 19 previously associated ocular features overlapping (FEVR-associated genes). Variants identified using targeted next-generation sequencing and/or Sanger analyzed...
Demand for genetic testing is increasing across medicine while the genetics workforce remains stable. In response, mainstreaming models, where non-geneticist clinicians are involved in pathway, being introduced. As a standardized approach would facilitate evaluation and optimal patient care, unified framework warranted. Through focus group with clinical experts, conceptual of proposed. consensus process, experts elucidated steps diagnostic care pathway defined set variables that influence...
Abstract Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals healthcare services is limited. We report on the feasibility an approach identification SF in inherited cardiac conditions (ICC) genes participants a rare GS study, followed by targeted clinical evaluation. Qualitative methods were used explore behavioural psychosocial disclosure. ICC...
Launched in 2014, the RARE Compassion Program is first international educational program to pair medical students with rare disease patients order enhance exposure and comfort diseases. As part of ongoing quality improvement, this study retrospectively reviewed four years participant registration data conduct a evaluation between 2014–2018. During period, there were 334 student participants, representing 67.3% Association American Medical Colleges (AAMC) member schools, 5389 volunteers....
Three Arctic marine fishes Icelus spatula, Aspidophoroides olrikii and Leptoclinus maculatus have been identified as target species for investigating the effects of ocean warming on population patterns in high-latitude habitats around Canada. In preparation this research, we resolved whole mitochondrial genome sequences 16 384, 17 200 384 bp each species, respectively. GC content was 47.5%, 44.2% 45.3%, Mitogenome gene composition included 13 protein-encoding genes, 2 rRNA 22 tRNA I. spatula...
Indigenous peoples in Canada continue to face health care inequities despite their increased risk for various negative outcomes. Evidence suggests that professions students and faculty do not feel curriculum adequately prepares learners address these inequities. The aim of this study was identify barriers hinder the inclusion adequate content curricula across programs. Semi-structured interviews were conducted with 33 members at a university from disciplines. Employing thematic analysis,...
Abstract The practice of recontact in genomic medicine has the power to help rectify long‐standing inequities genetic testing. However, if not delivered systematically, recontacting practices also have potential reinforce these same inequities. Recontact, which occurs when contact between a clinician and patient is reinitiated after relationship ended, often search or response updated interpretation results. Currently, happening patient‐driven ad hoc manner, undermining its benefit all...
Glycated hemoglobin A1c (HbA1c) is considered the standard of care for testing and monitoring diabetes. Its ability to accurately reflect glycemia, however, imperfect. Hemoglobin variants-mutant forms caused by genetic variation present in 7% population-are known adversely affect HbA1c measurement glycemic control. We report an illustrative case a 64-year-old nondiabetic man with steadily decreasing no symptoms hypoglycemia or concerning family history. Preliminary investigative workup...
Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand characterized by variable limb defects, congenital heart and cardiac conduction defects. HOS caused variants in TBX5, transcription factor involved development. Most reported pathogenic are single nucleotide exons, splicing variants, or deletions resulting null allele haploinsufficiency. Here we report case of an intragenic duplication TBX5 associated with fetal ultrasound findings consistent family ascertained prenatally. The...
Secondary findings (SF) are defined as genetic test results that actively sought but unrelated to the primary indication for testing. Approximately 1-4% of individuals having genome-wide sequencing (GWS) receive a medically actionable SF. The American College Medical Genetics and Genomics currently recommends 81 genes be analyzed SF when an individual receives clinical GWS. However, this practice is not universal, approaches secondary vary across programs jurisdictions.
Genome-wide Sequencing (GWS) allows for identification of disease-causing genetic variants and may reveal secondary findings (SF). SF are in genes unrelated to the initial indication testing but associated with risk other medically actionable conditions becoming more commonly offered clinical practice. Ontario (GSO), a GWS service Ontario, Canada, reports actionability childhood all pediatric patients, optional reporting those adulthood.
Demand for genetic testing and genomics-informed care is growing across many areas of medicine. In response, the role medical geneticists—physicians with specialty training in genetics genomics—may also evolve. Tests that were once exclusive purview geneticists, such as chromosomal microarrays multi-gene panels, have gradually moved into scope practice non-geneticist providers. Now, genome-wide sequencing increasingly recommended a diagnostic test rare disease, providers may be relied on to...