Expert Committee on Staff Pattern for Kerala Agricultural University Library and Information System (KAULIS)

Kerala Agricultural University (KAU) having a Library and Information System (KAULIS) extending services to its more than 48 campuses spread over the length and breadth of the State as part of its modernization programmes constituted an expert committee on staff. The terms of reference was to examine the work load and nature of work in libraries at different levels in the university; and suggest a staff pattern including qualifications and professional training required for its library and information service staff. The committee in its report submitted in 1999 opines that library and information service scenario is witnessing revolutionary changes in the mediums and methods for accessing, storing, organising, processing and disseminating information. Library management functions are currently in a transitional phase as the forces affecting the supply; organisation and delivery of information adjust to the new digital paradigm. To harness the possibilities offered by ICT the committee has redefined the librarian’s role, status and qualifications in a much wider context. Considering the requirement of the high tech system developed by KAU the committee evolved various recommendations and a staff formula which can satisfy the present and future needs for staffing the library and information service system of the university. The pattern suggested in the report can serve as a model also for other State Agricultural Universities engaged in modernizing their systems

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner