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The New England Journal of Medicine: Search Results in Genetics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Genetics. NEJM ( is a weekly general medical journal that publishes new medical research findings, review articles, and editorial opinion on a wide variety of topics of importance to biomedical science and clinical practice.

Antibodies to Mycobacterium tuberculosis
01/01/70 - Antibodies are time-honored reagents in the diagnosis, prevention, and treatment of infectious diseases. Depending on the disease in question, the presence of antibody in serum can be correlated with infection, immunity, or progression of disease. For example, the presence of antibody to hepatitis…

The 21st Century Cures Act ? A View from the NIH
01/01/70 - The Cures Act, formally known as H.R. 34 or the 21st Century Cures Act, passed overwhelmingly in the U.S. House of Representatives and Senate in the waning days of the 114th Congress and was signed into law by President Barack Obama on December 13, 2016. Weighing in at nearly 1000 pages, this…

TARGT Gene Therapy Platform for Correction of Anemia in End-Stage Renal Disease
01/01/70 - To the Editor: Anemia in patients with end-stage renal disease who are undergoing hemodialysis is caused, in part, by a reduction in or absence of secretion of endogenous erythropoietin. Recombinant human erythropoietin given intravenously has been associated with an increased risk of…

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
01/01/70 - To the Editor: Despite reported specificities of more than 98% for noninvasive prenatal screening with the use of cell-free DNA obtained from maternal blood, the published positive predictive values for trisomies 21, 18, and 13 are 93%, 64%, and 44%, respectively. The apparent discrepancy between…

Mitochondrial Donation ? Clearing the Final Regulatory Hurdle in the United Kingdom
01/01/70 - On December 15, 2016, the Human Fertilisation and Embryology Authority in the United Kingdom approved the use ? in certain, specific cases ? of a technique that is based on in vitro fertilization (IVF) and involves mitochondrial donation. Its Science Review Panel stated that "it is appropriate to…

Arrhythmogenic Right Ventricular Cardiomyopathy
01/01/70 - Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia, is a heritable heart-muscle disorder that predominantly affects the right ventricle. Progressive loss of right ventricular myocardium and its replacement by fibrofatty tissue is the…

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
01/01/70 - Medical genetics focuses on the relationship between observed phenotypes and their underlying genotypes, modes of transmission, and risks of recurrence. Expected patterns of mendelian inheritance are often used to confirm the identification of disease genes, and deviations from mendelian…

Oligonucleotide Therapeutics ? A New Class of Cholesterol-Lowering Drugs
01/01/70 - Not long ago, the cholesterol-lowering arena was monopolized by small-molecule drugs, most of them statins. The recent approval by the Food and Drug Administration (FDA) of alirocumab (Praluent, Sanofi/Regeneron) and evolocumab (Repatha, Amgen), monoclonal antibodies targeting proprotein convertase…

Targeting Therapeutic Oligonucleotides
01/01/70 - Oligonucleotides are increasingly recognized as potential therapeutic agents for a variety of diseases. This is particularly true for the treatment of genetic diseases and cancer, for which an increasing number of molecular targets are being identified. Moreover, oligonucleotides can ? at least in…

When One Diagnosis Is Not Enough
01/01/70 - An accurate diagnosis is essential for effective medical management; in the case of rare genetic disease, it also guides genetic counseling. Nevertheless, clinical assessments and conventional genetic testing lead to a diagnosis in less than half of patients. The introduction of whole-exome…

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