Turning Exploration (R&D) into a Sustainable Business Model

EMBA Project-Simon Fraser Universit

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non‐C282Y iron overload: identification of a novel TfR2 mutation

Blood. 2002 Aug 1;100(3):1075-7. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G. SourceGenes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada. Abstract Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within the TfR2 gene, including a homozygous missense change in exon 17, c2069 A-->C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH

The potential for development of information and communication technologies within the least developed countries

The study is an examination of the potential for the least developed countries of the world to develop information and communication technologies (ICTs) in aid of their social and economic development. It is felt that without the new technologies of information and communication these poorest countries will experience an ever widening of the development gaps that presently separate them from the more developed nations. This study focuses on four necessary criteria, or ingredients for the development of ICTs: the ability to fund ICTs, the presence of telecommunications infrastructures, the level of electrical generating capacity, and the capacity to provide trained scientists and technicians to develop, utilize and maintain ICTs. Individual measures for each of these criteria are developed, and these are used in combination to measure the relative ICT development potential within each of the 172 countries included in this study. The examination of any heterogeneity within the least developed countries with regards to this potential is an important part of this research. The specific implications of the findings for the 45 least developed countries which are included in this study we also discussed, as well as possible measures to increase ICT development potential therein. Finally, suggestions are made as to the need for further research in this area

Effects of a History of Concussions on Cognitive Function in Collegiate Wrestlers

A history of concussions has shown to affect neurocognitive degeneration, but it has not been investigated whether or not these aspects affect baseline cognitive scores. The purpose of this study was to investigate the effects a history of concussions has on neurocognitive function in collegiate wrestlers. Athletes (n = 28) were administered a neurocognitive computer test at the beginning of the wrestling season. We collected baseline cognitive scores, concussion history, and any post injury scores that occurred during the season. Results suggest that a history of three or more concussions had deleterious effects on neurocognitive function. Notched boxplots depicted variability among the baseline scores showing non-gaussain distributions. Spearhmens Rho (-1 to +1) showed almost no relationship (rs = -.07) between verbal and visual memory composite scores. A moderate positive relationship (rs = .38) between visual memory control and visual motor speed and a weak positive relationship (rs = .12) between verbal memory composite and visual motor speed. Reaction time and visual memory control had a moderate negative relationship (rs = -.42). We conclude that a history of concussions may cause deletrious effects cognitive function and using non-parametric statistics should be considered for future research in analyzing concussions