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Genome Editing and Gene Therapies: Complex and Expensive Drugs
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2020
Muscular dystrophy is caused by a mutation of the dystrophin gene that is the largest known human gene (>2,200 kb, roughly 0.1% of the whole genome) containing 79 exons (Koenig et al., 1987). Mutations comprise deletions (and duplication) of one or more exons, nonsense mutations, disruption of a splice site, and small deletion/insertion mutations, as found by Takeshima et al. (2010) who investigated the mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases. Two thirds of DMD mutations are deletions of one or multiple exons; mutational hotspots comprise exon 45 to exon 55 and exon 3 to exon 19, removing N-terminal actin-binding domains (Liechti-Gallati et al., 1989). The large size of the dystrophin gene impedes the delivery of the respective cDNA by viral vectors. An alternative is the use of truncated microdystrophin for recombinant AAV-mediated gene therapy of DMD (see, e.g., Okada and Takeda, 2013). Hence, genome editing may be the method of choice to generate a functional dystrophin gene.
CRISPR-Based Genome Engineering in Human Stem Cells
Published in Deepak A. Lamba, Patient-Specific Stem Cells, 2017
Thelma Garcia, Deepak A. Lamba
A study compared various corrections methods to repair gene defect in Duchenne muscular dystrophy (Li et al., 2015b). Duchenne muscular dystrophy is a severe form of muscle degenerative disease caused by a mutation in the dystrophin gene. The authors tried three correction methods including exon skipping, frameshifting, and exon knockin and reported that exon knockin works best. The group further confirmed that following differentiation, the generated skeletal muscles expressed full-length version of dystrophin protein. A recent publication reported modeling a number of kidney defects in three-dimensional (3D) culture systems following CRISPR-mediated gene knockouts (Freedman et al., 2015). The group reported that the CRISPR–Cas9 knockout of podocalyxin gene in the iPSCs caused junctional organization defects in podocyte-like cells in the 3D kidney cultures, while knocking out of the polycystic kidney disease genes PKD1 or PKD2 induced cyst formation from kidney tubules in these cultures. A new report recently looked at repairing a mutation associated with deafness (Chen et al., 2016). They generated iPSCs from members of a Chinese family carrying MYO15A c.4642G>A and c.8374G>A mutations. These iPSC lines upon differentiation generated hair cells with abnormal morphology. The authors then corrected the mutations in the patient iPSC lines using CRISPR, which resulted in the restoration of hair cell morphology and function in differentiated hair cells.
Assistive Robotic Manipulators
Published in Pedro Encarnação, Albert M. Cook, Robotic Assistive Technologies, 2017
Although current control interfaces allow clients with different needs physical access to the ARM, they may not be intuitive for some clients, and they require certain cognitive skills (e.g., sequencing, memory, spatial reasoning, timing) (Tsui et al. 2008). Thus, current research efforts have focused on developing alternative control interfaces that can better serve the unique needs of clients. For example, Athanasiou, Chawla, and Leichtnam (2006) have developed and compared three alternative control interfaces for the MANUS, designed for people with muscular dystrophy. Their three proposed interfaces included an infrared sensory open cube with motion sensors and a probe; a 6-DOF pen-shaped stylus device with joints that match the ARM’s joints; and finally a Logitech® mouse. The mouse alternative was found to be the superior option due to its low cost, wide availability, light weight, and safety. This option was also the most intuitive for users given their wide exposure to mouse control.
Graphene in wearable textile sensor devices for healthcare
Published in Textile Progress, 2022
Md Raju Ahmed, Samantha Newby, Wajira Mirihanage, Prasad Potluri, Anura Fernando
EMG can play a role in assessing the health of muscle tissue and nerves and is used in the diagnosis of neuromuscular diseases such as spinal muscular atrophy, Duchenne muscular dystrophy, and Parkinson’s disease (Ramírez et al., 2018). Cataldi et al. investigated injecting graphene nanoplatelets into cellulose fibres to create a composite electrode that can be used to detect EMG in the forearm; something that is already done in commercial Ti electrodes (Cataldi et al., 2016). In brain-machine interfaces, graphene can be used effectively as a transparent electrode (Harris et al., 2015). These electrodes can be used to record high-resolution electrophysiological activity in brain cells. Optical imaging and optogenetic modulation of the underlying brain tissue can be enabled through graphene’s transparency across a wide wavelength spectrum. Graphene electrodes also show five to six times less noise than gold-based electrodes when used in vivo neural recording experiments on adult rats (H. Jang et al., 2016). This shows that graphene can be used for brain research and cardiology; or wherever electrical information is stored.
Challenges and opportunities in wheelchair basketball classification– A Delphi study
Published in Journal of Sports Sciences, 2021
Osnat Fliess Douer, Davidah Koseff, Sean Tweedy, Bartosz Molik, Yves Vanlandewijck
Only classifiers took part in this section. There were 6 cases or health conditions to be ranked. The list was generated based on discussions with the IWBF classification commission, as well as with classifiers who attended the IWBF classification refresher course that was held in Malle, Belgium, November 2016. Here is the ranked list from highest to lowest: Classifying players with upper limb deficiency.Classifying players with coordination impairments (for example, in case of CP).Classifying players with muscular dystrophy/MS/Progressive disease.Classifying players with post-polio.Classifying players playing for less than two years.Classifying young players under 23 years old.
The future potential of the Stentrode
Published in Expert Review of Medical Devices, 2019
Sam E. John, David B. Grayden, Takufumi Yanagisawa
To date, the most impressive demonstrations of BMIs came from penetrating intracortical recordings from the BrainGate consortium, where some users could type up to 30 characters per minute by using thought to move a cursor on a screen to type letters [7]. While this is impressive, the technology faces several challenges in translation to clinical application. The StentrodeTM approach has so far shown reliable two-class classification in sheep [8] but continuous trajectory decoding is yet to be demonstrated. However, from a user’s point of view, functional control in a take-home BMI is appealing even if the speed of control is reduced. Only one BMI is presently in use at home by a person with paralysis, who uses a single command to select an object on a screen [9]. Even this single class classification system provides improvement to her everyday life. At the very least, the StentrodeTM is expected to be capable of separating movement intent or imagination versus rest. The first-in-human clinical trial (ClinicalTrials.gov Identifier: NCT03834857) using the StentrodeTM is scheduled for 2019. This trial is an Early Feasibility Study in participants with paralysis resulting from spinal cord injury, motor neuron disease, stroke, muscular dystrophy, or amputation.