scholarly journals Large scale population screening for Duchenne muscular dystrophy – Preliminary results

2022 ◽  
Vol 226 (1) ◽  
pp. S347
Author(s):  
Gal Cohen ◽  
Atalia Shtorch-Asor ◽  
Racheli Goldfarb-Yaacobi ◽  
Meirav Kaiser ◽  
Revital Rosenfeld ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Large Scale ◽  
Population Screening ◽  
Preliminary Results ◽  
Scale Population

Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study

2019 ◽  
Author(s):  
Francesca Broggi ◽  
Silvia Vai ◽  
Giovanni Baranello ◽  
Valeria Sansone Sansone ◽  
Grazia D'Angelo ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Preliminary Results

scholarly journals In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Menglong Chen ◽  
Hui Shi ◽  
Shixue Gou ◽  
Xiaomin Wang ◽  
Lei Li ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Genome Editing ◽  
Large Scale ◽  
Gene Editing ◽  
High Efficiency ◽  
Muscle Fibers ◽  
Muscle Cells

Abstract Background Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells—cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repeat (CRISPR)-mediated gene editing is a promising strategy for permanently curing DMD. Methods In this study, we developed a novel strategy for reframing DMD mutations via CRISPR-mediated large-scale excision of exons 46–54. We compared this approach with other DMD rescue strategies by using DMD patient-derived primary muscle-derived stem cells (DMD-MDSCs). Furthermore, a patient-derived xenograft (PDX) DMD mouse model was established by transplanting DMD-MDSCs into immunodeficient mice. CRISPR gene editing components were intramuscularly delivered into the mouse model by adeno-associated virus vectors. Results Results demonstrated that the large-scale excision of mutant DMD exons showed high efficiency in restoring dystrophin protein expression. We also confirmed that CRISPR from Prevotella and Francisella 1(Cas12a)-mediated genome editing could correct DMD mutation with the same efficiency as CRISPR-associated protein 9 (Cas9). In addition, more than 10% human DMD muscle fibers expressed dystrophin in the PDX DMD mouse model after treated by the large-scale excision strategies. The restored dystrophin in vivo was functional as demonstrated by the expression of the dystrophin glycoprotein complex member β-dystroglycan. Conclusions We demonstrated that the clinically relevant CRISPR/Cas9 could restore dystrophin in human muscle cells in vivo in the PDX DMD mouse model. This study demonstrated an approach for the application of gene therapy to other genetic diseases.

scholarly journals Is large-scale population screening coming to psychiatry?

2020 ◽  
Vol 2 (5) ◽  
pp. e210-e211
Author(s):  
Ioana Alina Cristea ◽  
Florian Naudet
Keyword(s):  
Large Scale ◽  
Population Screening ◽  
Scale Population

The feasibility of large scale population screening

1985 ◽  
Vol 72 (S1) ◽  
pp. s71-s72 ◽  
Author(s):  
G. Ekelund ◽  
U. Carlsson ◽  
L. Janzon
Keyword(s):  
Large Scale ◽  
Population Screening ◽  
Scale Population

scholarly journals European phylogeography of Rhyacophila tristis Pictet (Trichoptera: Rhyacophilidae): preliminary results

Zoosymposia ◽  
2011 ◽  
Vol 5 (1) ◽  
pp. 11-18 ◽  
Author(s):  
MIKLÓS BÁLINT ◽  
LUJZA UJVÁROSI ◽  
A. LEHEL DÉNES ◽  
OCTAVIAN POPESCU
Keyword(s):  
Large Scale ◽  
Sequence Data ◽  
Wide Spread ◽  
Central European ◽  
Preliminary Results ◽  
Phylogeographic Analysis ◽  
Genetic Patterns ◽  
Scale Population ◽  
The Alps ◽  
Study Species

We present preliminary results of a phylogeographic analysis of Rhyacophila tristis, a wide-spread European caddisfly. Mitochondrial sequence data (the second part of the mtCOI gene) of 52 of specimens were used to investigate large-scale population genetic patterns of Central European populations of the study species. The results show strong genetic differences between a western and an eastern lineage. The deep split most probably indicates that the identified lineages of R. tristis survived in independent Pleistocene refugia in the Alps and in the Carpathians, emphasizing the importance of these areas in the Pleistocene survival of aquatic mountain organisms

scholarly journals Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012910
Author(s):  
Jonathan Broomfield ◽  
Micki Hill ◽  
Michela Guglieri ◽  
Michael Crowther ◽  
Keith Abrams
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Life Expectancy ◽  
Large Scale ◽  
Individual Patient Data ◽  
Meta Analysis ◽  
Research Literature ◽  
Patient Data ◽  
Mortality Data ◽  
Kaplan Meier

Objective:Duchenne Muscular Dystrophy (DMD) is a rare progressive disease, which is often diagnosed in early childhood, and leads to considerably reduced life-expectancy; due to its rarity, research literature and patient numbers are limited. To fully characterise the natural history, it is crucial to obtain appropriate estimates of the life-expectancy and mortality rates of patients with DMD.Methods:A systematic review of the published literature on mortality in DMD up until July 2020 was undertaken, specifically focusing on publications in which Kaplan-Meier (KM) survival curves with age as a time-scale were presented. These were digitised and individual patient data (IPD) reconstructed. The pooled IPD were analysed using the Kaplan-Meier estimator and parametric survival analysis models. Estimates were also stratified by birth cohort.Results:Of 1177 articles identified, 14 publications met the inclusion criteria and provided data on 2283 patients, of whom 1049 had died. Median life-expectancy was 22.0 years (95% CI: 21.2, 22.4). Analyses stratifying by three time-periods in which patients were born showed markedly increased life-expectancy in more recent patient populations; patients born after 1990 have a median life-expectancy of 28.1 years (95% CI 25.1, 30.3).Conclusions:This paper presents a full overview of mortality across the lifetime of a patient with DMD, and highlights recent improvements in survival. In the absence of large-scale prospective cohort studies or trials reporting mortality data for patients with DMD, extraction of IPD from the literature provides a viable alternative to estimating life-expectancy for this patient population.

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