Alison Eaton
A5039832491- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Cutaneous Melanoma Detection and Management
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Oral and gingival health research
- Cancer Genomics and Diagnostics
- Inhalation and Respiratory Drug Delivery
- Endoplasmic Reticulum Stress and Disease
- Neurological diseases and metabolism
- Melanoma and MAPK Pathways
- Williams Syndrome Research
- Hemoglobinopathies and Related Disorders
- Biochemical and Molecular Research
- Heme Oxygenase-1 and Carbon Monoxide
- Alkaline Phosphatase Research Studies
- Vitamin K Research Studies
- Metabolism and Genetic Disorders
- Genetic and rare skin diseases.
- Muscle Physiology and Disorders
- Autoimmune Neurological Disorders and Treatments
- Patient-Provider Communication in Healthcare
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
University of Alberta
2020-2025
Stollery Children's Hospital
2020-2025
Children's Hospital of Eastern Ontario
2018-2024
University of Ottawa
2018-2024
Royal Alexandra Hospital
2022
Alberta Health Services
2022
Johns Hopkins University
2021
Alberta Children's Hospital
2018
University of Calgary
2018
Karolinska Institutet
2012
Purpose and scope The aim of this position statement is to provide recommendations for clinicians regarding the use genetic metabolic investigations patients with neurodevelopmental disorders (NDDs), specifically, global developmental delay (GDD), intellectual disability (ID) and/or autism spectrum disorder (ASD). This document also provides guidance primary care non-genetics specialists caring these while awaiting consultation a clinical geneticist or specialist. Methods development A...
Objective To identify disease‐causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. Methods We performed genome‐wide sequencing, homozygosity mapping, segregation analysis for novel gene discovery. used circular dichroism to show secondary structure changes isothermal titration calorimetry investigate the impact of on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays mass...
Abstract Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized intellectual disability hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical molecular spectrum diverse populations, identify physical features that may be more prevalent White versus Black Indigenous People Color individuals, delineate genotype–phenotype...
Abstract Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals described many features of this disorder are unknown. We refine phenotype report 19 additional harbouring compound heterozygous or homozygous inactivating ADAM22...
Trichilemmal cysts are benign organoid nevi derived from the outer root sheath of hair follicle that were first described as a distinct entity in 2007 (Tantcheva-Poor et al. 2007). The keratin-filled, epithelial-lined arise most frequently on scalp but may also develop face, neck, and extremities (Al Aboud 2024). These lesions common type skin cyst occur less than 10% US population Transformation trichilemmal into tumors or carcinomas has been observed occasion (Kearns-Turcotte 2022; Alici...
<div>AbstractBackground:<p>Recent genome-wide association studies (GWAS) have identified new susceptibility loci for melanoma, but their associations with multiple primary melanoma (MPM) are unclear.</p>Methods:<p>We investigated the of 69 SNPs in 39 GWAS-identified odds MPM relative to single international, population-based Genes, Environment, and Melanoma study. Per-minor-allele ORs 95% confidence intervals (CI) individuals “cases” (<i>n</i> = 1,205)...
In high-pressure pulmonary edema, lung interstitial and air space edema liquids have equal protein concentrations (Am. J. Physiol. 231: 1466, 1976). This suggests that the alveolar-airway barrier separating spaces is relatively unrestrictive, even without apparent epithelial injury. To estimate equivalent pore population of we inflated each 18 isolated dog lobes for 1 h with a solution colored tracer uniform radius. Tracer radii ranged from 1.3 to 405 nm. After freezing in liquid N2,...
For years, the genetics community has estimated number of individual rare genetic diseases to be approximately 6,000-8,000. A commonly quoted derivation this estimate is based on simple addition phenotypic entries with and without confirmed molecular etiologies in Online Mendelian Inheritance Man (OMIM®). Here, we examine validity estimation by mining OMIM that are likely or suspected inheritance a cause (MIM prefix "%" "null"). Of 3,204 unsolved OMIM, only two-thirds (2,034 entries)...
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...
Leukotrienes are pro-inflammatory mediators that locally produced in coronary atherosclerotic plaques. The response induced by cysteinyl leukotrienes (CysLT) human arteries may be altered under pathological conditions, such as atherosclerosis. aim of the present study was to elucidate leukotriene signaling vascular smooth muscle cells (SMCs) and effects inflammation on this process. Immunohistochemical analysis carotid endarterectomy samples revealed CysLT(1) receptor expressed areas also...
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined oxidative phosphorylation deficiency 614932). The latter described in multiple families presenting with complex neurologic manifestations childhood. We describe adult siblings biallelic variants identified through WES who presented severe congenital (SNHL). In their 40s, they each developed then followed nearly identical...
Exome sequencing (ES) is an effective diagnostic tool with a high yield in consanguineous families. However, how and mode of inheritance relate to family structure has not been well delineated. We reviewed ES results from families enrolled the Care4Rare Canada research consortium various degrees consanguinity. contrasted parents who are second cousins or closer ("close" consanguinity) vs those more distantly related isolated populations ("presumed" consanguinity). further stratified by...
Abstract Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It potent inhibitor of extracellular matrix mineralization. Biallelic loss-of-function variants the MGP gene cause Keutel syndrome, an autosomal recessive disorder characterized by widespread calcification various tissues skeletal anomalies. In this study, we report four individuals from two unrelated families with heterozygous , both...
Tonne-Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS caused exclusively by variants in the gene encoding E3 ubiquitin ligase RLIM, also known as RNF12. Here we report identification of a novel RLIM missense variant, c.1262A>G p.(Tyr421Cys) adjacent to regulatory basic region, which causes severe form resulting perinatal lethality Inheritance...
We examined the utility of clinical and research processes in reanalysis publicly-funded exome sequencing data Ontario, Canada. In partnership with eight sites, we recruited 287 families suspected rare genetic diseases tested between 2014 2020. Data from seven laboratories was reanalyzed referring clinicians. Reanalysis clinically relevant genes identified diagnoses 4% (13/287); four were missed by testing. Translational methods, including analysis novel candidate genes, candidates 21%...