48 research outputs found

    A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

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    The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

    Adult mental health provision in England : a national survey of acute day units

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    Background Acute Day Units (ADUs) exist in some English NHS Trusts as an alternative to psychiatric inpatient admission. However, there is a lack of information about the number, configuration, and functioning of such units, and about the extent to which additional units might reduce admissions. This cross-sectional survey and cluster analysis of ADUs aimed to identify, categorise, and describe Acute Day Units (ADUs) in England. Methods English NHS Mental Health Trusts with ADUs were identified in a mapping exercise, and a questionnaire was distributed to ADU managers. Cluster analysis was used to identify distinct models of service, and descriptive statistics are given to summarise the results of the survey questions. Results Two types of service were identified by the cluster analysis: NHS (n = 27; and voluntary sector services (n = 18). Under a third of NHS Trusts have access to ADUs. NHS services typically have multi-disciplinary staff teams, operate during office hours, offer a range of interventions (medication, physical checks, psychological interventions, group sessions, peer support), and had a median treatment period of 30 days. Voluntary sector services had mostly non-clinically qualified staff, and typically offered supportive listening on a one-off, drop-in basis. Nearly all services aim to prevent or reduce inpatient admissions. Voluntary sector services had more involvement by service users and carers in management and running of the service than NHS services. Conclusions The majority of NHS Trusts do not provide ADUs, despite their potential to reduce inpatient admissions. Further research of ADUs is required to establish their effectiveness and acceptability to service users, carers, and staff

    Identification of genes required for eye development by high-throughput screening of mouse knockouts.

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    Despite advances in next generation sequencing technologies, determining the genetic basis of ocular disease remains a major challenge due to the limited access and prohibitive cost of human forward genetics. Thus, less than 4,000 genes currently have available phenotype information for any organ system. Here we report the ophthalmic findings from the International Mouse Phenotyping Consortium, a large-scale functional genetic screen with the goal of generating and phenotyping a null mutant for every mouse gene. Of 4364 genes evaluated, 347 were identified to influence ocular phenotypes, 75% of which are entirely novel in ocular pathology. This discovery greatly increases the current number of genes known to contribute to ophthalmic disease, and it is likely that many of the genes will subsequently prove to be important in human ocular development and disease
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