Sharing is caring: a call for a new era of rare disease research and development.

Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and there is hope that disease-specific treatments are on the way. However, the rare disease community has reached a critical point in which its increasingly fragmented structure and operating models are threatening its ability to harness the full potential of advancing genomic and computational technologies. Changes are therefore needed to overcome these issues plaguing many rare diseases while also supporting economically viable therapy development.

Data silos are undermining drug development and failing rare disease patients.

Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter event has inspired optimism in the patient, clinical, and research communities that disease-specific treatments are on the way. However, we fear the tendency of various stakeholders to balkanize databases in proprietary formats, driven by current economic and academic incentives, will inevitably fragment the expanding knowledge base and undermine current and future research efforts to develop much-needed treatments.

The International Wayfinding Strategy Scale: evidence for cross-cultural use with a sample from the UK.

This study suggested Lawton and Kallai's 2002 International Wayfinding Strategy Scale was appropriate for use in the UK. Participants at a northeastern English university (N = 148) completed the scale. Principal components analysis (oblimin rotation) with 2 factors specified supported the expected structure and indicated the scale could be used to measure wayfinding strategies across cultures; however, 1 of the 17 original items on the scale was not suitable for use with a UK sample and 1 item loaded on the opposite factor as expected.

A school-based randomized controlled trial of peer-led sex education in England.

This article discusses the design of an ongoing cluster-randomized trial comparing two forms of school-based sex education in terms of educational process and sexual health outcomes. Twenty-nine schools in southern England have been randomized to either peer-led sex education or to continue with their traditional teacher-led sex education. The primary objective is to determine which form of sex education is more effective in promoting young people's sexual health.

Workplace supports, job performance, and integration outcomes for people with psychiatric disabilities.

The notion of natural workplace supports is an essential ingredient in achieving successful supported employment outcomes. This quantitative study examines the characteristics of 243 individuals with psychiatric disabilities participating in supported employment programs in the United States. Diagnoses, psychiatric symptoms, and Global Assessment of Functioning were evaluated in relation to supported employment outcomes, including social interaction, wages, and workplace supports.

Behavioural intervention trials for HIV/STD prevention in schools: are they feasible?

Objective: To assess the feasibility of conducting a large randomised controlled trial (RCT) of peer led intervention in schools to reduce the risk of HIV/STD and promote sexual health.

Methods: Four secondary schools in Greater London were randomly assigned to receive peer led intervention (two experimental schools) or to act as control schools. In the experimental schools, trained volunteers aged 16-17 years (year 12) delivered the peer led intervention to 13-14 year old pupils (year 9).

Interference cancellation in respiratory sounds via a multiresolution joint time-delay and signal-estimation scheme.

This paper is concerned with the problem of cancellation of heart sounds from the acquired respiratory sounds using a new joint time-delay and signal-estimation (JTDSE) procedure. Multiresolution discrete wavelet transform (DWT) is first applied to decompose the signals into several subbands. To accurately separate the heart sounds from the acquired respiratory sounds, time-delay estimation (TDE) is performed iteratively in each subband using two adaptation mechanisms that minimize the sum of squared errors between these signals.

Reduced order Kalman filtering for the enhancement of respiratory sounds.

In the processing and analysis of respiratory sounds, heart sounds present the main source of interference. This paper is concerned with the problem of cancellation of the heart sounds using a reduced-order Kalman filter (ROKF). To facilitate the estimation of the respiratory sounds, an autoregressive (AR) model is fitted to heart signal information present in the segments of the acquired signal which are free of respiratory sounds.

Iron-rich Basal sediments from the eastern equatorial pacific: leg 16, deep sea drilling project.

Iron-rich sediments chemically similar to those forming at present on the crest of the East Pacific Rise have been found just above basement at widely separated drill sites in the eastern equatorial Pacific, including three sites of Leg 16 of the Deep Sea Drilling Project. These sediments were probably formed when the basement was at the crest of this rise and have moved to their present location as a result of sea-floor spreading.