Search results for " Genetic diseases"
showing 5 items of 5 documents
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease
2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozyg…
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS
2018
Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.
Translational readthrough inducing drugs: a study of toxicity in mice models and in vitro safety validation of the specific readthrough process.
2022
Objective Nonsense mutations are responsible for 15% of Cystic Fibrosis (CF) patients due to the introduction of a premature stop codon (PTC) in the mRNA and the production of a truncated CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein1. A promising therapeutic approach for stop mutations is the suppression therapy by Translational Readthrough Inducing Drugs (TRIDs) to restore the expression of the protein2,3. Recently three new TRIDS (NV848, NV914, NV930) have been proposed and validated by several assays. Our work was focused on TRIDs NV848, NV914, NV930. Important aspects of TRIDs to be evaluated are their specificity towards PTC, to demonstrate that TRIDs do not inter…
Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec …
2020
In the last years, the advent of exome sequencing (ES) in diagnosis and in research led to the identification of the genetic bases of many Mendelian disorders, allowing many diagnostic wavering cases to be solved. Nevertheless, ES data analysis only leads to the identification of pathogenic or likely pathogenic variants in 30 to 45 % of the undiagnosed cases. Indeed, some limits exist, both at clinical, molecular and bioinformatic levels. The constant evolution of the clinical knowledge, of the number of genes involved in human diseases, and of the clinical-biological correlations, has a significant impact on data analysis, leading to a progressive improvement in diagnostic research. Limits…
OXADIAZOLE DERIVATIVES FOR THE TREATMENT OF GENETIC DISEASES DUE TO NONSENSE MUTATIONS
2018
Are disclosed oxadiazole derivatives, their use as medicaments and in particular for the treatment of diseases associated with the presence of a nonsense mutation in the gene or a premature stop codon in the mRNA, pharmaceutical formulation comprising said oxadiazole derivatives and prodrug or mixture thereof and the methods for the preparation of said Oxadiazole derivatives.