Many geneticists are disgruntled with the coverage of genetics in the mass media, yet geneticists themselves have a part to play in improving that coverage. This article aims to help geneticists to do so by explaining the forces that shape science news. It provides some specific options for reducing hype, countering genetic determinism and preventing the use of genetics to reinforce discriminatory messages, slants that many reporters are inclined to give to their articles.
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http://dx.doi.org/10.1038/nrg2201 | DOI Listing |
J Vasc Surg Cases Innov Tech
February 2025
Department of Cardiothoracic and Vascular Surgery, McGovern Medical School at UTHealth Houston, Houston, TX.
Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including mutations that cause Loeys-Dietz syndrome. McGovern Medical School at UTHealth Houston convenes a regular conference that includes cardiothoracic and vascular surgeons, cardiologists, geneticists, radiologists, and pathologists to formulate multidisciplinary approaches for the management of complex heritable thoracic aortic disease cases. In this report, we highlight the unique management of individuals with distinct presentations of Loeys-Dietz syndrome owing to mutations.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Children's Hospital, Hannover Medical School, Hannover, Germany.
Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.
Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.
Eur J Hum Genet
January 2025
Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute, Melbourne, VIC, Australia.
Clin Chem
January 2025
Division of Genomic and Molecular Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States.
Background: Massively parallel sequencing (MPS) of nucleic acids has been a transformative technology for basic and applied genomic science, increasing efficiencies and decreasing costs to enable studies of unprecedented scope and impact. In clinical settings, these technological and scientific advances have led to the development of tests that are increasingly fast, comprehensive, and more frequently employed. Practitioners of genomic medicine have applied these tools across clinical settings, including diagnosis of inherited disorders and cancers and infectious disease detection and surveillance.
View Article and Find Full Text PDFCase Rep Med
December 2024
Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Congenital arhinia and hyporhinia are rare facial anomalies whose knowledge usually comes from case reports. The severity of each case described in literature is variable; it also depends on associated malformations too. Since the newborns are obligate nasal breathers, babies with arhinia or hyporhinia usually have respiratory distress and need airway stabilization.
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