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.
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 PDFAmyotroph 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.