Louise Johnston

TL;DR: RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.

TL;DR: A novel putative autotransporter protein (NMB1998) was identified in the available genomic sequence of meningococcal strain MC58 (ET-5; ST-32), and a recombinant protein of the expected size was expressed and after being affinity purified was used to raise rabbit polyclonal monospecific antiserum.

TL;DR: It is concluded that the HcWT protein is more immunogenic than TTxd when given via the transcutaneous route, and that traditional toxoid proteins may not be optimal antigens for skin immunisation.

TL;DR: The rapid uptake of omics approaches has resulted in major advances in rare disease research and led to an exponential growth in data generation, and the development of integrated approaches in which data from high-throughput omics technologies can be analysed together and linked to clinical phenotypes and information from registries and biobanks is key.

TL;DR: It is crucial to improve data analysis and presentation of current diagnostic studies, to make better use of existing data, or ultimately perform test-treatment trials to answer the question whether introduction of a new high sensitive test will in fact improve patient relevant outcomes, or rather induce overdiagnosis and overtreatment.