22 documents found, page 1 of 3

Doenças lisossomais de sobrecarga em Portugal: aspetos bioquímicos, genéticos e...

Mucopolissacaridoses em população pediátrica: resultados de uma abordagem de pr...

As Mucopolissacaridoses (MPSs), constituem um subgrupo das Doenças Lisossomais de Sobrecarga, causadas por deficiências em enzimas lisos somais, que catalisam a degradação dos glicosaminoglicanos. As MPSs têm apresentação multissistémica, heterogénea e consequentemente de diagnóstico difícil. O projeto FIND tem como objetivo alertar os clínicos para sinais e sintomas de risco ao mesmo tempo que disponibiliza um...

Doenças mitocondriais na era da sequenciação de nova geração: estudo de 450 doe...

As doenças mitocondriais (DM) são doenças raras, clínica e geneticamente heterogéneas, de difícil diagnóstico, para as quais não existe uma terapia eficaz. O desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular deste grupo de doenças, permitindo a identificação de novos genes associados a estas patologias. Nesta nova era genética, através da utilização da tecn...

Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model

Tay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics and reduced residual activity. The availability of disease-relevant cell types derived from induced pluripotent stem c...

Preliminary characterization of lysosomal-related genes in two tay sachs varian...

Aim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual detection of future alterations.

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Vari...

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we...

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Vari...

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we...

Molecular characterization of a novel splicing mutation underlying mucopolysacc...

Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the "diagnostic odyssey", which frequently afflicts affected families, the proband's sample was simultaneously screened for mutation...

Targeted next generation sequencing identifies novel pathogenic variants and pr...

Mitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was to develop a next generation sequencing (NGS) strategy, by using a custom gene panel and whole mitochondrial genome, to identify the disease causing pathogenic variants in 146 patients suspicious of MD. The molecular analysis of...

DESVENDAR “DEScobrir, VENcer as Doenças rARas”

As Doença Raras apresentam uma incidência inferior a 5 casos em cada 10.000 pessoas, estando identificadas cerca de 7.000 a nível mundial, das quais 80% são origem genética. Estima-se que em Portugal existam 600.000 a 800.000 doentes portadores destas patologias. O projeto de investigação DESVENDAR “DEScobrir, VENcer as Doenças rARas”, financiado pelo Norte 2020 (NORTE-01-0246-FEDER-000014), possibilitou a impl...