GeneMedicine.net

Gene Medicine Xagena

Several epidemiological studies have investigated the associations of methylenetetrahydrofolate reductase ( MTHFR ) C677T and A1298C polymorphisms with hypertension ( H ) or hypertension in pregnancy ...


Despite the identification of gene mutations in methyl CpG binding protein 2 ( MECP2 ) being linked to Rett syndrome ( RS ), research has been hindered by the lack of commercially available reference ...


A new gene therapy for Parkinson's disease has achieved promising results in its first human tests, involving 15 patients.Nicholas Mazarakis, Gene Therapy at the Imperial College London, devised the a ...


Acute intermittent porphyria ( AIP ) is a rare genetic disease in which mutations in the porphobilinogen deaminase ( PBGD ) gene produce insufficient production of a protein necessary for heme synthes ...


Fanconi anemia ( FA ) is a complex genetic disease associated with congenital abnormalities, bone marrow failure ( BMF ) and cancer predisposition. Allogeneic transplantation constitutes the preferent ...


Researchers have previously reported the preliminary safety and efficacy data of a novel gene transfer approach in six subjects with severe haemophilia B ( Nathwani et al,NEJM365:2357–65, 2011 ). In b ...


Mucopolysaccharidosis type IIIA is a severe degenerative disease due to an autosomal recessive genetic defect in the gene coding for the lysosomal N-sulfoglycosamine sulfohydrolase ( SGSH ) whose cata ...


Pyruvate kinase deficiency ( PKD ) is a monogenic metabolic disease caused by mutations in the PKLR gene that impairs energetic balance in erythrocytes causing hemolytic anemia in a very variable rang ...


Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders.Researchers have developed technical, bioinformatic, interpreti ...


Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent disse ...


Dyskeratosis congenita ( DC ) is a heterogeneous multi-system syndrome exhibiting marked clinical and genetic heterogeneity. In its classical form it is characterised by mucocutaneous abnormalities, b ...


The treatment of cancer has been one of the earliest and most frequent applications of gene therapy in experimental medicine. However, this indication entails unique difficulties, especially in the ca ...


Cellular immune responses to adeno-associated viral ( AAV ) vectors used for gene therapy have been linked to attenuated transgene expression and loss of efficacy. The impact of such cellular immune r ...


Transthyretin amyloidosis is caused by the deposition of hepatocyte-derived transthyretin amyloid in peripheral nerves and the heart. A therapeutic approach mediated by RNA interference ( RNAi ) could ...


Besides the use of Temozolomide ( Temodal ) and radiotherapy for patients with favourable methylation status, little progress has been made in the treatment of adult glioblastoma. Local control of the ...