A5001304057- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Mentoring and Academic Development
- ECG Monitoring and Analysis
- Cancer Genomics and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- Cardiac Imaging and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Innovations in Medical Education
- Cardiac electrophysiology and arrhythmias
- Adolescent and Pediatric Healthcare
- Genetics, Bioinformatics, and Biomedical Research
- Vascular Malformations and Hemangiomas
- Non-Invasive Vital Sign Monitoring
- Intracranial Aneurysms: Treatment and Complications
- Phonocardiography and Auscultation Techniques
- Vascular Malformations Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
University of British Columbia
2021-2024
B.C. Women's Hospital & Health Centre
2021-2023
Genomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption integration genomic medicine into practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility testing map process inform practice. This leverages collaboration collective cognition patients, principal care providers, specialists,...
Mentorship programs in health professional education are often characterized as a mutually beneficial relationship between mentor and mentee, but little is known about benefits for mentors. Mentors can be professionals, academic faculty, other students (peers), patients (health mentors). We studied the that mentors (people with chronic conditions or disabilities, caregiver) get from mentoring students, contextual factors contribute to, explain these benefits.We surveyed 72 who had mentored...
Abstract To date, PACS1 ‐neurodevelopmental disorder ( ‐NDD) has been associated with recurrent variation of Arg203 and is considered diagnostic ‐NDD, an autosomal dominant syndromic intellectual disability disorder. Although incompletely defined, the proposed disease mechanism for this variant altered affinity its client proteins. Given mechanism, we hypothesized that variants interfere binding adaptor proteins might also give rise to disability. Herein, report a proposita her mother...
<sec> <title>BACKGROUND</title> Cardiovascular disease remains the leading cause of mortality worldwide. Cardiac fibrosis impacts underlying pathophysiology many cardiovascular diseases by altering structural integrity and impairing electrical conduction. Identifying cardiac is essential for prognosis management disease; however, current diagnostic methods face challenges due to invasiveness, cost, inaccessibility. Electrocardiograms (ECGs) are widely available cost-effective monitoring...
Cerebral cavernous malformations (CCMs) of the central nervous system arise sporadically or secondary to genomic variation. Established genetic etiologies include deleterious variants in KRIT1 (CCM1), malcavernin (CCM2), and PDCD10 (CCM3). KRIT1-related disease has not been described conjunction with lymphatic defects, although defects abnormal endothelial cell junctions have observed mice deficient HEG1-KRIT1 signaling. We report a proband CCMs, multiple chylous mesenteric cysts, ascites...