Services, Systems and Policies Shaping Community Mobility for People with Mobility Impairments: A Case Study from Northern Iceland

Community mobility, or the act of moving around within the community, can be thought of as an occupation, but also as a means to occupation, because it is essential for people to have opportunities to participate in society. People with mobility impairments do not have the same opportunities as other people to move around because of multiple challenges in the environment. This research aimed to enhance understanding of how services, systems and policies shape community mobility of people with mobility impairments in the town of Akureyri in northern Iceland. This dissertation further raises awareness about human rights, occupational rights and occupational justice issues regarding the relationship between these infrastructure factors and community mobility for this group. Case study methodology was used, which includes using multiple methods for data collection. Two focus group interviews were conducted with people with mobility impairments, and one with service providers working within the disability sector. Based on findings from these focus groups, two policy areas were identified that are essential to support community mobility, that is transportation services and accessibility. Those policy areas were then explored further with a review of publicly available policy documents. The overall findings of this case study highlight key areas that could improve community mobility of people with mobility impairments if taken into consideration in all policy development in Iceland. Those areas are regarding (1) Users’ involvement in policy development; (2) Clarity and consistency of policy texts; (3) Monitoring of the system as a whole; and (4) Occupational right and justice values in policies. The findings indicate that current policies are not sufficiently congruent with the United Nations’ Convention on the Rights of Persons with Disabilities, and people with mobility impairments are subject to occupational injustices and violation of occupational rights, which originates at the system level. This work points to the need to reconsider the way policies are developed and has implications not only for people with mobility impairments, but also policy makers, service providers, and researchers in the field

Loss-of-Function Variants in the Tumor-Suppressor Gene Confer Increased Cancer Risk.

To access publisher's full text version of this article click on the hyperlink belowThe success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing genes requires detection of variant-cancer association of ultra-rare coding variants. Consequently, large-scale next-generation sequence data with associated phenotype information are needed. Here, we used genotype data on 166,281 Icelanders, of which, 49,708 were whole-genome sequenced and 408,595 individuals from the UK Biobank, of which, 41,147 were whole-exome sequenced, to test for association between loss-of-function burden in autosomal genes and basal cell carcinoma (BCC), the most common cancer in Caucasians. A total of 25,205 BCC cases and 683,058 controls were tested. Rare germline loss-of-function variants in PTPN14 conferred substantial risks of BCC (OR, 8.0; P = 1.9 × 10-12), with a quarter of carriers getting BCC before age 70 and over half in their lifetime. Furthermore, common variants at the PTPN14 locus were associated with BCC, suggesting PTPN14 as a new, high-impact BCC predisposition gene. A follow-up investigation of 24 cancers and three benign tumor types showed that PTPN14 loss-of-function variants are associated with high risk of cervical cancer (OR, 12.7, P = 1.6 × 10-4) and low age at diagnosis. Our findings, using power-increasing methods with high-quality rare variant genotypes, highlight future prospects for new discoveries on carcinogenesis. SIGNIFICANCE: This study identifies the tumor-suppressor gene PTPN14 as a high-impact BCC predisposition gene and indicates that inactivation of PTPN14 by germline sequence variants may also lead to increased risk of cervical cancer.Common Fund of the Office of the Director of the National Institutes of Health United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Heart Lung & Blood Institute (NHLBI) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Drug Abuse (NIDA) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Mental Health (NIMH) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Neurological Disorders & Stroke (NINDS