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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.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
31/12/69 - Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a form of Batten?s disease, is a rare, autosomal recessive, pediatric neurodegenerative disease resulting from pathogenic variants in the gene encoding lysosomal enzyme tripeptidyl peptidase 1 (TPP1). A deficiency of TPP1 results in accumulation…

Gene Therapy in Patients with Transfusion-Dependent ?-Thalassemia
31/12/69 - The ?-hemoglobinopathies, which include ?-thalassemia and sickle cell disease, are among the most prevalent monogenic disorders worldwide. ?-thalassemia is caused by more than 200 mutations in the HBB globin gene, which encodes the beta subunit of the most common form of adult hemoglobin, HbA.…

Gene Therapy as a Curative Option for ?-Thalassemia
31/12/69 - With an estimated global prevalence of 288,000 cases, ?-thalassemia is one of the most common genetic diseases in the world, and every year another 60,000 infants are born with the disease. Of these patients, 60 to 80% have a severe form of the disease and require regular red-cell transfusions and…

Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma
31/12/69 - Gene-expression profiling defined the activated B-cell?like (ABC) and germinal-center B-cell?like (GCB) subgroups of diffuse large B-cell lymphoma (DLBCL), leaving approximately 10 to 20% of cases "unclassified." This phenotypic distinction is associated with overall survival after standard therapy…

Finding a Treatment for ALS ? Will Gene Editing Cut It?
31/12/69 - A key challenge in human medical genetics is developing the ability to suppress the expression of mutant genes that cause diseases that are transmitted as dominant traits. This is particularly true for the neurodegenerative disorders; many such disorders have dominantly inherited genetic forms and…

The Key Role of Epigenetics in Human Disease Prevention and Mitigation
31/12/69 - The epigenome consists of nuclear information, heritable during cell division, that controls development, tissue differentiation, and cellular responsiveness. Epigenetic information is controlled by genome sequence, environmental exposure, and stochasticity, or random chance. As such, epigenetics…

Molecular Minimal Residual Disease in Acute Myeloid Leukemia
31/12/69 - Acute myeloid leukemia (AML) is a heterogeneous group of clonal hematopoietic stem-cell disorders with a variable response to therapy. Although the majority of patients with newly diagnosed AML have morphologic complete remission after they are treated with intensive induction chemotherapy, relapse…

Clonal Hematopoiesis after Induction Chemotherapy for Acute Myeloid Leukemia
31/12/69 - Successful intensive induction chemotherapy for acute myeloid leukemia (AML) results in at least a 2 to 4 log10 reduction in the 1 trillion malignant cells that are present at diagnosis, often with recovery of normal platelet and neutrophil levels within a month after treatment initiation ? an…

A CRISPR Way to Restore Hearing
31/12/69 - Hereditary hearing loss is one of the most common disabilities among newborns, affecting approximately 1 in 1000 live-born babies. Most forms of hereditary hearing loss are nonsyndromic; 80% of affected newborns have hearing loss that is inherited in an autosomal recessive pattern, and in the…

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
31/12/69 - To the Editor: Pheochromocytomas and paragangliomas are catecholamine-secreting tumors of chromaffin cells with frequent germline, somatic, or postzygotic mutations in genes that are involved in hypoxia-related pathways (including VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, EGLN1, FH, MDH2, and EPAS1).…

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