- George Ebers, University of Oxford
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, Universitätsklinikum Halle
- David-Alexandre Tregouet, INSERM
- Tim Sands, BioMed Central
Coverage of pharmacogenetics in UK print media over-emphasizes benefits and downplays risks; as this is an important source of health information there is an onus on researchers to provide balanced claims in press releases, and for nuanced reporting from journalists.
Germline mutations in the TP53 gene have been identified in French-Canadian patients attending hereditary breast cancer clinics, along with other patients without suspected family history, finding six new mutations, with all diagnoses under 50 years old.
A previously reported finding of a variant in a polypyrimidine tract binding protein 1 (PTBP1) associated with invtravenous glucose tolerance is not replicated in a new study nor with increased diabetes risk but does find association with beta-cell function.
A PCR method can successfully amplify myotonic dystrophy type 1 alleles directly from whole blood in 15 minutes, providing a proof-of-principle for how current PCR technology can be adapted to rapid, direct genetic tests.
BMC Medical Genetics 2015, 16:34
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BMC Medical Genetics is an open access, peer-reviewed journal that considers articles on the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
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Giovanni Neri is professor and chair at the Institute of Medical Genetics of the Catholic University School of Medicine in Rome and chief of the Medical Genetics Services of the "A. Gemelli" University Hospital. He is currently serving as President of the Societá Italiana di Genetica Umana and as member of the Scientific Program Committee of the European Society of Human Genetics. He is advisory editor of the American Journal of Medical Genetics. His main research interests are in the field of mental retardation, specifically the fragile X syndrome, and of malformation syndromes, including the RASopathies and overgrowth syndromes.