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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.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia
01/01/70 - During embryonic development, tissues and organs form in spatiotemporally defined successions of events until the organism has acquired its final shape. Many of these events, such as limb morphogenesis or the formation of sweat glands and other skin appendages, can be irreversibly affected if…

Prostate Cancer Metastasis ? Fueled by Fat?
01/01/70 - Obesity is approaching epidemic proportions worldwide and is having an effect on many chronic illnesses, including cancer. The physiological consequences of obesity include a state of chronic inflammation, which has been associated with an increased risk of development of cancer or of progression…

In Utero Protein Therapy for an Inherited Developmental Disorder
01/01/70 - Ectodermal dysplasias comprise a heterogeneous group of rare genetic diseases in which two or more derivatives of the embryonic surface ectoderm ? the skin, hair, teeth, nails, or sweat or other cutaneous glands ? fail to develop normally. Hypohidrotic ectodermal dysplasia is the most common type…

Parental Mosaicism in "De Novo" Epileptic Encephalopathies
01/01/70 - To the Editor: De novo disease-causing variants have been increasingly recognized in apparently sporadic, severe neurologic disorders in children, including developmental and epileptic encephalopathies and autism. Geneticists indicate that the risk of recurrence of these disorders in families with…

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
01/01/70 - 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
01/01/70 - 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
01/01/70 - 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
01/01/70 - 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?
01/01/70 - 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
01/01/70 - 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…

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