A5025887243- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Academic Publishing and Open Access
- Muscle metabolism and nutrition
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Nutrition, Genetics, and Disease
- Health and Medical Research Impacts
University of Toronto
2023-2024
Hospital for Sick Children
2023-2024
University of British Columbia
2021
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear. We identified reports published from 2017 2021 10 genetics journals Mendelian disorders. adjudicated the quality detail via 46 questions pertaining six priority domains: (I) Development, cognition, mental health;...
Many parents are motivated to pursue genome-wide (exome or genome) sequencing find a diagnosis for their child with suspected but undiagnosed genetic condition. However, the impact of genomic test extends beyond provision results and so-called 'diagnostic odyssey'. Our goal was quantify post-test decisional regret characterize long-term, experiences unmet needs children diseases after they had received sequencing. Study participants were who underwent trio as part CAUSES research study at...
The use of next-generation sequencing technologies such as genomic in newborn screening (NBS) could enable the detection a broader range conditions. We explored parental preferences and attitudes towards for conditions which varying types treatment exist with cross-sectional survey completed by 100 parents newborns who received NBS Ontario, Canada. included four vignettes illustrative hypothetical targets, followed questions assessing attitudes. Chi-square tests were used to compare...
Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs) have shown promise as individualized genetic interventions diseases. However, there is currently no consensus on which disease-causing DNA variants suitable candidates this type therapy. The Patient Identification Working Group N=1 Collaborative (N1C),...
A significant proportion of neonates and infants who present with epilepsy have been found to an underlying genetic etiology. Genetic diagnoses can provide critical information for clinical management ameliorate health outcomes. In anticipation the growing availability rapid testing, we aimed determine feasibility, diagnostic yield utility genome sequencing in infants.
Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic disorders of synthesis and transport due to pathogenic GAMT, GATM, or SLC6A8 variants, frequently result in serious neurological impairment. The ClinGen CCDS Variant Curation Expert Panel (VCEP) adapted the 2015 ACMG/AMP guidelines create a systematic framework for variant classification, thereby supporting early diagnosis, targeted therapy, improved long-term outcomes. Missense variants most common type, but interpreting...
Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear.
ABSTRACT Background Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear. Methods We identified reports published from 2017-2021 ten genetics journals Mendelian disorders ascertained genotype-first. adjudicated the quality detail via 46 questions pertaining six priority...