Implementation of population genetic screening programmes requires consideration of strategies for reaching the greatest proportion of the target population in order to achieve maximum awareness. This article reviews the current strategy of school-based population genetic screening programmes. The school environment is an ideal setting for offering relevant genetic screening programmes as it provides an opportunity to engage people at a time when they are exposed to a range of educational experiences and are sufficiently mature to be involved in decision-making processes. Such programmes allow all students, not only those studying biology, an opportunity to be educated and experience genetic screening in a supportive environment, ultimately increasing understanding and empowering students. While the major form of genetic screening in schools has been for reproductive health information (eg carrier screening for TaySachs disease and cystic fibrosis), genetic screening in schools for other conditions may be a timely proposition.
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http://dx.doi.org/10.1038/sj.ejhg.5201581 | DOI Listing |
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
January 2025
Institute of Pathology CHU Lille, University of Lille, 59000 Lille cedex, France. Electronic address:
The latest 2022 WHO classification of the parathyroid tumors incorporates recent data on parathyroid pathophysiology, in particular from genetic sequencing. It highlights histological features potentially indicative of underlying genetic abnormalities, because of their implications for patient management. Immunohistochemical markers can help characterize parathyroid lesions and molecular screening.
View Article and Find Full Text PDFLancet Oncol
January 2025
Health Systems and Population Health, University of Washington, Seattle, WA, USA. Electronic address:
Background: PATHFINDER was a prospective cohort study of multicancer early detection (MCED) testing in an outpatient ambulatory population. The aim of this study is to report the patient-reported outcomes (PROs) collected as secondary and exploratory measures in the PATHFINDER study.
Methods: PATHFINDER is a prospective, multicentre, cohort study that enrolled existing healthy ambulatory outpatients at seven health networks in the USA, including hospitals, academic medical centres, and integrated health systems.
Mol Ther
January 2025
Leibniz Institute for Immunotherapy (LIT), Division of Genetic Immunotherapy, Regensburg, Germany. Electronic address:
A rapidly growing number of chimeric antigen receptors (CARs) is being translated into cell therapy for malignant and autoimmune diseases. While cancer cell-selective CAR targeting is undergoing continuous refinement, specific testing for overlooked recognition of healthy tissues is commonly not performed, which potentially results in underestimating of the risk of severe tissue damage upon CAR T cell application. Using the FcμR/IgM receptor/FAIM3/TOSO-specific CAR, designed to target chronic lymphocytic leukemia cells, we exemplarily outline a screen to uncover reactivities to healthy tissues and discuss the value of such pre-clinical testing to improve safety in CAR T cell application.
View Article and Find Full Text PDFJ Bacteriol
January 2025
Department of Microbiology, Howard Taylor Ricketts Laboratory, The University of Chicago, Chicago, Illinois, USA.
Protein secretion is an essential cell process in bacteria, required for cell envelope biogenesis, export of virulence factors, and acquisition of nutrients, among other important functions. In the Sec secretion pathway, signal peptide-bearing precursors are recognized by the SecA ATPase and pushed across the membrane through a translocon channel made of the proteins SecY, SecE, and SecG. The Sec pathway has been extensively studied in the model organism , but the Sec pathways of other bacteria such as the human pathogen differ in important ways from this model.
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