Publications by authors named "Emma Owens"
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity.
Objectives: The authors report work by the Clinical Genome Resource Hereditary Cardiovascular Disease (HCVD) Gene Curation Expert Panel (GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
Article Synopsis
- Establishing which specific disease entity to focus on is crucial for accurately assessing the relationship between genes and monogenic disorders, influencing the classification of gene-disease validity and variant pathogenicity.* -
- Due to some genes affecting multiple phenotypes, a continuous process of re-evaluating disease names and categories is needed, coordinated by the Disease Naming Advisory Committee (DNAC) formed by ClinGen, Mondo, and OMIM.* -
- The DNAC aims to create consistent guidance for disease naming across various groups, improving communication and standardization in gene-disease research, while addressing existing inconsistencies in the identification of monogenic disorders.*
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Ann Clin Transl Neurol
September 2024
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.
View Article and Find Full Text PDFBackground: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.
View Article and Find Full Text PDFIntroduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.
View Article and Find Full Text PDFArticle Synopsis
- Scientists are now doing more genomic testing, which is checking our genes to see if we have or could get certain diseases.
- They created a new database called CardiacG2P that helps understand how certain genes can cause heart diseases and makes it easier to find important gene changes.
- By using this new database, they can better focus on the changes that really matter, making the process of testing for heart-related issues faster and more accurate.
Article Synopsis
- The study investigates the effectiveness of repeated imaging for locating abnormal parathyroid glands in patients with primary hyperparathyroidism (PHPT) when initial scans fail.
- The analysis included 45 patients from 2015-2020, revealing that many did not proceed to surgery even after repeat scans, with only 28% showing positive results.
- The conclusion suggests a more efficient approach that limits repeated imaging to twice and prioritizes surgical evaluation for those unfit for conservative treatment.
Article Synopsis
- More places are starting to use genomic testing, which means regular doctors will be looking at genetic information instead of just specialists.
- This study looks at 65 gene-disease pairs related to inherited heart conditions and created a new dataset called CardiacG2P to help understand genetic variants better.
- By using CardiacG2P, labs can find important genetic changes more easily while still catching most harmful variants compared to other methods.*
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotroph Lateral Scler Frontotemporal Degener
August 2023
: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS.
View Article and Find Full Text PDFA 45-year-old man presenting with abdominal pain was found to have severe hypercalcaemia with elevated parathyroid hormone. Investigations revealed a parathyroid mass and bone metastases consistent with metastatic parathyroid carcinoma. The patient underwent parathyroidectomy, with histology confirming a right inferior parathyroid carcinoma.
View Article and Find Full Text PDFThreshold testing of cardiac rhythm devices is essential to monitoring the proper functioning of such devices (1). However, the currently method of applying multiple ECG leads to the patient is burdensome and time consuming (2). We are presenting a completely new way to perform cardiac rhythm device threshold testing using pulse oximetry.
View Article and Find Full Text PDFWe asked younger and older human participants to perform computer-based configural discriminations that were designed to detect acquired equivalence. Both groups solved the discriminations but only the younger participants demonstrated acquired equivalence. The discriminations involved learning the preferences ["like" (+) or "dislike" (-)] for sports [e.
View Article and Find Full Text PDFInterest in promoting regeneration of the injured nervous system has recently turned toward the use of endogenous stem cells. Elucidating cues involved in driving these precursor cells out of quiescence following injury, and the signals that drive them toward neuronal and glial lineages, will help to harness these cells for repair. Using a biomechanically validated in vitro organotypic stretch injury model, cortico-hippocampal slices from postnatal mice were cultured and a stretch injury equivalent to a severe traumatic brain injury (TBI) applied.
View Article and Find Full Text PDFThis article reviews the role of imaging in the management of trauma patients. First the trauma series is reviewed, principally the chest, pelvis and cervical spine radiographs along with an approach to their interpretation. The role of computed tomography in trauma imaging is then discussed.
View Article and Find Full Text PDFAim: To review the initial experience of blending a variety of online educational techniques with traditional face to face or contact-based teaching methods to deliver final year undergraduate radiology content at a UK Medical School.
Materials And Methods: The Brighton and Sussex Medical School opened in 2003 and offers a 5-year undergraduate programme, with the final 5 spent in several regional centres. Year 5 involves several core clinical specialities with onsite radiology teaching provided at regional centres in the form of small-group tutorials, imaging seminars and also a one-day course.