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3 result(s) for "Defay, Thomas"
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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome of a patient with the condition was sequenced and a diagnosis made within 13 hours, leading to informed treatment.
Protein folding with homologous sequences
The protein folding problem has been one of the most intractable problems facing science for almost 40 years. The problem is to predict the three-dimensional structure of a protein from its amino acid sequence. Early on, it was hoped that a simple pattern relating the amino acids would help solve this problem, much as the structure of DNA was solved. When this proved unsuccessful, efforts turned toward developing energy functions accurate enough to identify the native structure. In forty years this problem still has not yielded. Fortunately, a homologous family of sequences all fold to a similar three-dimensional structure. This fact can be exploited to increase the accuracy of structure predictions. The most straightforward way to use a homologous sequence is if that sequence already has an experimentally determined structure. In this case, the structure can be used as a template upon which to build a new structure, as we have done. We have also proposed a new method for predicting structure based upon an old technique, threading. When threading, the goal is to match a sequence with one of a set of known folds in a protein database. We have devised a new method which \"threads\" using the information from a set of homologous sequences.
Roadmap on energy harvesting materials
Ambient energy harvesting has great potential to contribute to sustainable development and address growing environmental challenges. Converting waste energy from energy-intensive processes and systems (e.g. combustion engines and furnaces) is crucial to reducing their environmental impact and achieving net-zero emissions. Compact energy harvesters will also be key to powering the exponentially growing smart devices ecosystem that is part of the Internet of Things, thus enabling futuristic applications that can improve our quality of life (e.g. smart homes, smart cities, smart manufacturing, and smart healthcare). To achieve these goals, innovative materials are needed to efficiently convert ambient energy into electricity through various physical mechanisms, such as the photovoltaic effect, thermoelectricity, piezoelectricity, triboelectricity, and radiofrequency wireless power transfer. By bringing together the perspectives of experts in various types of energy harvesting materials, this Roadmap provides extensive insights into recent advances and present challenges in the field. Additionally, the Roadmap analyses the key performance metrics of these technologies in relation to their ultimate energy conversion limits. Building on these insights, the Roadmap outlines promising directions for future research to fully harness the potential of energy harvesting materials for green energy anytime, anywhere.