Being the Bottom Line: Mothers' Experiences of Fostering Networks That Will Support Their Son or Daughter with Disabilities

This phenomenological study was part of a wider ethnographic research project of nine personal support networks. Participants were purposefully recruited to the project because of their involvement in networks that were committed to actively developing the positive, meaningful future of an adult family member with lifelong disabilities. Data were collected from November 2007 to March 2012. A narrative analysis of a subset of the data, the transcripts of interviews with the mother of the son or daughter with disabilities at the centre of eight of the networks, was conducted for the purposes of this study. Findings were checked with mothers. The mothers in this study anticipated the family, particularly sisters, circles, the service and/ or a good village will support their son or daughter with disabilities when they, and the father of their son or daughter, are no longer able to. They did so by embodying appropriate ways of thinking, supporting siblings and, meeting the shortfall. The networks they anticipated for the future were uniquely configured however they were influenced by transitions and turning points in the lives of their son or daughter with lifelong disabilities. Mothers were the bottom line in these networks. Paradoxically, they exercised their sense of responsibility by engaging others in the networks that will support their sons and daughters into the future. The findings from this study will inform the further development of initiatives that support parents in the process of preparing for the future support of their son or daughter with lifelong disabilities

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead