| 1. |
- Bladen, Catherine L., et al.
(författare)
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The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia
- 2013
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 34:11, s. 1449-1457
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Tidskriftsartikel (refereegranskat)abstract
- Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence<5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.
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| 2. |
- Mareschal, Sylvain, et al.
(författare)
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Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML
- 2021
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Ingår i: Blood Advances. - : American Society of Hematology. - 2473-9529 .- 2473-9537. ; 5:4, s. 1003-1016
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Tidskriftsartikel (refereegranskat)abstract
- Although copy number alterations (CNAs) and translocations constitute the backbone of the diagnosis and prognostication of acute myeloid leukemia (AML), techniques used for their assessment in routine diagnostics have not been reconsidered for decades. We used a combination of 2 next-generation sequencing-based techniques to challenge the currently recommended conventional cytogenetic analysis (CCA), comparing the approaches in a series of 281 intensively treated patients with AML. Shallow whole-genome sequencing (sWGS) outperformed CCA in detecting European Leukemia Net (ELN)-defining CNAs and showed that CCA overestimated monosomies and suboptimally reported karyotype complexity. Still, the concordance between CCA and sWGS for all ELN CNA-related criteria was 94%. Moreover, using in silico dilution, we showed that 1 million reads per patient would be enough to accurately assess ELN-defining CNAs. Total genomic loss, defined as a total loss 200 Mb by sWGS, was found to be a better marker for genetic complexity and poor prognosis compared with the CCA-based definition of complex karyotype. For fusion detection, the concordance between CCA and whole-transcriptome sequencing (WTS) was 99%. WTS had better sensitivity in identifying inv(16) and KMT2A rearrangements while showing limitations in detecting lowly expressed PML-RARA fusions. Ligation-dependent reverse transcription polymerase chain reaction was used for validation and was shown to be a fast and reliable method for fusion detection. We conclude that a next-generation sequencing-based approach can replace conventional CCA for karyotyping, provided that efforts are made to cover lowly expressed fusion transcripts.
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| 7. |
- Guillén, Sergio, et al.
(författare)
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IoT European Large-Scale Pilots – Integration, Experimentation and Testing
- 2017
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Ingår i: Cognitive Hyperconnected Digital Transformation. - New York : Taylor & Francis. ; , s. 221-282
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Bokkapitel (refereegranskat)abstract
- The IoT European Large-Scale Pilots Programme includes the innovation consortia that are collaborating to foster the deployment of IoT solutions in Europe through the integration of advanced IoT technologies across the value chain, demonstration of multiple IoT applications at scale and in a usage context, and as close as possible to operational conditions.The programme projects are targeted, goal-driven initiatives that propose IoT approaches to specific real-life industrial/societal challenges. They are autonomous entities that involve stakeholders from the supply side to the demand side, and contain all the technological and innovation elements, the tasks related to the use, application and deployment as well as the development, testing and integration activities.This chapter describes the IoT Large Scale Pilot Programme initiative together with all involved actors. These actors include the coordination and support actions CREATE-IoT and U4IoT, being them drivers of the programme, and all five IoT Large-Scale Pilot projects, namely ACTIVAGE, IoF2020, MONICA, SynchroniCity and AUTOPILOT.ot projects, namely ACTIVAGE,IoF2020, MONICA, SynchroniCity and AUTOPILOT.
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| 8. |
- Stenlid, Jan, et al.
(författare)
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Emerging Diseases in European Forest Ecosystems and Responses in Society
- 2011
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Ingår i: Forests. - : MDPI AG. - 1999-4907. ; 2, s. 486-504
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Tidskriftsartikel (refereegranskat)abstract
- New diseases in forest ecosystems have been reported at an increasing rate over the last century. Some reasons for this include the increased disturbance by humans to forest ecosystems, changed climatic conditions and intensified international trade. Although many of the contributing factors to the changed disease scenarios are anthropogenic, there has been a reluctance to control them by legislation, other forms of government authority or through public involvement. Some of the primary obstacles relate to problems in communicating biological understanding of concepts to the political sphere of society. Relevant response to new disease scenarios is very often associated with a proper understanding of intraspecific variation in the challenging pathogen. Other factors could be technical, based on a lack of understanding of possible countermeasures. There are also philosophical reasons, such as the view that forests are part of the natural ecosystems and should not be managed for natural disturbances such as disease outbreaks. Finally, some of the reasons are economic or political, such as a belief in free trade or reluctance to acknowledge supranational intervention control. Our possibilities to act in response to new disease threats are critically dependent on the timing of efforts. A common recognition of the nature of the problem and adapting vocabulary that describe relevant biological entities would help to facilitate timely and adequate responses in society to emerging diseases in forests.
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