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Nejm News Une Mise à Jour The New England Journal of Medicine by Specialties

 


The New England Journal of Medicine: Search Results in Genetics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Genetics. NEJM (http://www.nejm.org) 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.

Tezacaftor?Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis
01/01/70 - Cystic fibrosis is a progressive, systemic, life-limiting, autosomal recessive disease that is caused by reduced quantity or function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein due to mutations in the CFTR gene. Loss of chloride transport activity due to defects in…

Tezacaftor?Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del
01/01/70 - Cystic fibrosis is caused by a reduced quantity or function of cystic fibrosis transmembrane conductance regulator (CFTR) protein, owing to mutations in CFTR. A loss of chloride secretion causes impaction of mucus in the airways, gastrointestinal tract, and exocrine organs, with important clinical…

CFTR Modulator Therapy for Cystic Fibrosis
01/01/70 - Cystic fibrosis is a disease of abnormal ion transport through epithelium that results in progressive lung disease as well as the involvement of other organs including the pancreas, gut, and liver. Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane…

Compelling Reasons for Repairing Human Germlines
01/01/70 - Under normal circumstances, if you combined sperm half of which carried a dominant disease allele with unaffected oocytes, only 50% of the resulting human embryos would be expected to have unaffected copies of the gene in question. Researchers Ma, Mitalipov, and colleagues recently reported that…

Designing Ethical Trials of Germline Gene Editing
01/01/70 - The recent announcement that researchers have successfully used the CRISPR (clustered regularly interspaced short palindromic repeats) gene-editing technique to correct a mutation that leads to hypertrophic cardiomyopathy in human embryos is the latest reminder of the urgency of the social and…

Adjuvant Dabrafenib plus Trametinib in Stage III BRAF-Mutated Melanoma
01/01/70 - The incidence of cutaneous melanoma has continued to increase in recent years. For early-stage melanoma, surgical resection is the standard treatment and is associated with an excellent long-term prognosis, with 5-year survival rates of 98% for stage I disease and 90% for stage II disease. However,…

Monogenic Diseases of DNA Repair
01/01/70 - Maintaining the stability of the genome is essential for all organisms, and it is not surprising that damage to DNA has been proposed as an explanation for multiple chronic diseases. Conserving a pristine genome is therefore of central importance to our health. To overcome the genotoxic stress that…

Paving the Path toward Porcine Organs for Transplantation
01/01/70 - According to the Organ Procurement and Transplantation Network, more than 116,000 U.S. patients are currently waiting for a lifesaving organ and only 23,092 organs from 10,871 donors were transplanted during the first 8 months of 2017. About 25% of patients on the waiting list die before receiving…

Circling Back for the Diagnosis
01/01/70 - Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors? commentary follows. Stage. A 28-year-old man presented to the…

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
01/01/70 - Spinal muscular atrophy (SMA) is a severe childhood monogenic disease resulting from loss or dysfunction of the gene encoding survival motor neuron 1 (SMN1). The incidence of this disease is approximately 1 in 10,000 live births, with a carrier frequency of 1 in 54. SMA is characterized by the…

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