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

The evaluation of the Transformers programme : an emotion regulation programme for people who have an intellectual disability : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Clinical Psychology at Massey University, Wellington, New Zealand

It is widely accepted that emotion regulation difficulties are common in people who have an intellectual disability. Not being able to manage their distressing emotions can lead to challenging behaviour such as verbal and physical violence and property destruction and can lead to injury, alienation, poor-self-esteem, and legal problems. Growing research suggests that people who have an intellectual disability have the ability to engage in and benefit from interventions that address their emotion regulation problems. The current thesis consists of four papers—a systematic literature review, programme description, a study regarding emotional identification, and a study about emotion regulation. The main aim of the research was to evaluate an emotion regulation programme known as Transformers that is being implemented at an intellectual disability service. Transformers is a group-based treatment programme that is run over a six-month period. Five participants with mild to moderate intellectual disability (aged 17-42 years) attended the Transformers programme and took part in the studies along with their caregivers. A single-case design was chosen to evaluate the effectiveness of the programme. Participants completed emotion recognition tasks and self-report measures of emotion regulation before, during, and after their involvement in the programme. Caregivers also rated the frequency of participants’ use of emotion regulation skills and incident reports provided insight into their ongoing behaviour. While the results showed that the Transformers programme was not effective in improving participants’ abilities to recognise emotion nonetheless participants did increase in their ability to use appropriate emotion regulation strategies and reduced the number of incidents of challenging behaviour. Overall, these preliminary findings suggest that the Transformers programme is a viable treatment option for people who have an intellectual disability who have difficulty managing their own emotions. While the findings are encouraging, it is recommended that further research be carried out using larger sample sizes and longer follow up periods to establish the effectiveness of the programme