Genetics of age-related macular degeneration and Stargardt disease in South African populations

Background: The Retinal Degenerative Diseases (RDD) Research Group in the Division of Human Genetics at UCT has for the past 25 years been intensively investigating a range of RDD phenotypes. Two points of particular note have emerged regarding Macular Degenerations (MD) : (i) that more than 58% of juvenile MD, notably Stargardt Disease (STGD) , in Caucasian populations may have the underlying causative genetic defect identified , while only 1 1 % of the similar phenotype in indigenous African populations is resolved, and (ii) that the 'elderly' form of MD, i.e. age - related macular degeneration (AMD) has a remarkably lower incidence in the indigenous African population when compared to any other population group, and most notably the Caucasian (or European - derived) population /s . This study investigates the genetic factors underlying macular degeneration (MD) in our study cohort comprising various South African ethnolinguistic groups with particular focus on disease in juvenile and elderly indigenous Africans. Materials and Methods: For the STGD part of the study, sequencing of the entire ABCA4 coding and splice region (comprising 50 amplicons) was performed in three African STGD patients who were representative of three common haplotypes identified within the larger cohort of 36 patients . Pathogenicity predictive software, PON - P and Human Splice Finder (HSF), were used for in silico data analysis. For the AMD subset: Available local indigenous southern African population - based genome - wide S ingle Nucleotide Polymorphism (SNP) chip (Affymetrix SNP6) data was used to identify SNPs within known AMD candidate genes in which allele frequencies were significantly different (i.e. 10 fold) between Caucasians and indigenous southern Africans. Nine SNPs occurring at higher frequencies within Africans compared to Caucasian controls were genotyped by SNaPshot PCR within a multi - ethnic AMD SA cohort. Minor allele frequencies (MAF) were compared using SHEsis. Results: Sequencing of ABCA 4 in three African STGD patients produced 39 unique variants, out of which only one, (V643M), was deemed pathogenic. HSF predicted 22 of these non - exonic variants to be 'possibly pathogenic', confounding analysis. No variants segregated with the common haplotypes. Regarding the AMD cohort, eight SNPs in candidate AMD genes showed a decreased MAF in African AMD cases compared to controls, two of which (rs9621622 in TIMP3 and rs17110714 in ABCA4 ), were statistically significant ( p values of 9.95 x 10 - 4 and 1.04 x 10 - 2 , respectively). Discussion and Conclusion: Although a number of variants were identified in the coding region of three haplotype - representative STGD subjects, only one variant proved pathogenic but did not co - segregate with the haplotype in the rest of the samples. It is possible that variants in regulatory regions not captured by the exonic screening might be involved, or that another gene may be imp licated in the 'STGD - like' phenotype in the indigenous African subjects. In the second part of the study, the investigation of the African AMD cohort suggested that SNPs in TIMP3 and ABCA4 are associated with a decreased susceptibility, and may therefore plausibly be protective for AMD in indigenous Africans. Overall, however, this should be considered only a pilot study of macular degeneration in the indigenous African population, providing leads to larger scale studies of this group of disorders in this population group

The Heidelberg Catechism on human sin and misery

The Heidelberg Catechism’s section on Sin and Misery does not provide a moralistic or legalistic perspective on the human condition. Instead, it offers, in abbreviated format, a restatement of the doctrine of original sin, which points to sin as a condition and not just an act. As such, it invites us to think more deeply about the complexities of the human condition and of human agency

Employee benefits and challenges of telecommuting virtual working arrangements in the services industry

M. Comm.Virtual working arrangements, including telecommuting, are on the increase globally due to the challenges that organisations face in the current global economy. Virtual working arrangements present considerable possible benefits to organisations, employees and the community at large if correctly implemented. It is estimated that 45 million Americans teleworked in 2006 alone (O’Brien & Hayden, 2007) with predictions of the number reaching 100 million in the United States of America by 2010 (Wilsker, 2008). However, in South Africa this organisational form is not well documented or implemented presently. As a result, local organisations are unaware of the employee benefits and challenges that will be faced when implementing a telecommuting programme and how best to implement teleworking arrangements with these factors in mind

Design of a Thermal and Micrometeorite Protection System for an Unmanned Lunar Cargo Lander

The first vehicles to land on the lunar surface during the establishment phase of a lunar base will be unmanned lunar cargo landers. These landers will need to be protected against the hostile lunar environment for six to twelve months until the next manned mission arrives. The lunar environment is characterized by large temperature changes and periodic micrometeorite impacts. An automatically deployable and reconfigurable thermal and micrometeorite protection system was designed for an unmanned lunar cargo lander. The protection system is a lightweight multilayered material consisting of alternating layers of thermal and micrometeorite protection material. The protection system is packaged and stored above the lander common module. After landing, the system is deployed to cover the lander using a system of inflatable struts that are inflated using residual fuel (liquid oxygen) from the fuel tanks. Once the lander is unloaded and the protection system is no longer needed, the protection system is reconfigured as a regolith support blanket for the purpose of burying and protecting the common module, or as a lunar surface garage that can be used to sort and store lunar surface vehicles and equipment. A model showing deployment and reconfiguration of the protection system was also constructed

Civilization and the Environment: The Norse and Ancient Egypt

A comparative study on the effects the environment can have on the development of a civilization, with the two case studies being the Norse and Ancient Egypt civilizations. Both had environments that isolated the population from the outside world, but the isolation differed in scope and therefore shaped each civilization in different ways. Isolation around a civilization is shown in Ancient Egypt to have allowed the society to focus inwards and create a structured and unified society. For the Norse civilization, whose isolating environment was on the border of the region, and also within, it created pockets of societies with similar culture and laws, but without the unified and organized structure of Ancient Egypt

Some Benefits of Using Technology in Supporting and Nurturing Student Ministers in Field Education

The author reflects and describes use of technology in all aspects of theological education as it has expanded over the years

Principlism and citizen science: the possibilities and limitations of principlism for guiding responsible citizen science conduct

Citizen science (CS) has been presented as a novel form of research relevant for social concerns and global challenges. CS transforms the roles of participants to being actively involved at various stages of research processes, CS projects are dynamic, and pluralism arises when many non-professional researchers take an active involvement in research. Some argue that these elements all make existing research ethical principles and regulations ill-suited for guiding responsible CS conduct. However, while many have sought to highlight such challenges from CS, few have discussed principles per se providing the foundation for regulations. In this article we will investigate the possibilities of midlevel principlism in guiding responsible CS conduct. Principlism has the potential of accommodating many of the concerns taken to reduce the relevance of existing principles

Does "free" higher education in South Africa make economic sense? Views of commerce students

AbstractStudent protests demanding ‘free’ higher education at South Africa universities in 2015 is a reminder that there are still a lot of unresolved issues regarding the inequalities due to the apartheid era in the higher education system. Some of these issues include insufficient state funding of higher education, the increase of tuition fee and unpaid student debt. Even though ‘free’ higher education sounds appealing, the question is whether implementing ‘free’ higher education would make economic sense in South Africa. The study aimed to investigate the perceptions of commerce students at one South African university regarding the economic feasibility of ‘free’ higher education and how it might affect the South African economy. The research aimed to give a descriptive analysis of the perceptions of commerce students and were empirically investigated by means of a questionnaire, containing both open and closed questions. Gaining understanding into student perceptions can be invaluable, as they are considered the livelihood of higher education institutions.The results show that the respondents do not think that ‘free’ higher education make economic sense in South Africa as the economy is too weak and there is too much corruption and wasteful spending in government. The respondents also indicated that the economy will mostly be negatively affected by ‘free’ higher education in that there will be an increase of the financial burden on the South African economy and tax payer. They also regard other government services to be of greater importance than implementing ‘free’ higher education.The results of this study are not necessarily generalisable beyond the scope of the particular institution, but the findings do create a platform for the continued debate on the importance, economic feasibility and implementation of ‘free’ higher education in South Africa.

“An echo of our parents”: Norway’s Legal Reckoning with Underage NS Collaborators

On 18 June, 1945 ,a 15½ year old boy, O.A.E. (born1929), was brought before the Stjørdal and Verdal court of inquiry together with his father. Both had spent two days in Vollan circuit jail and six weeks in Falstad internment camp on suspicion of criminal treason, as they during the German occupation had been members of the collaborationist party Nasjonal Samling (NS). According to the newspaper Adresseavisen on 19 June,1945, the 15-year-old stated “boldly” when asked by the magistrate that he had joined the NS’s sub-organisation for 10 to 18-year-olds (NSUF) “to help create a healthy youth“. The boy was released on condition of reporting to the police and his case was later dismissed

Realisasjon som innvinningsbegivenhet i inntektsskatteretten - En studie av realisasjonsbegrepet i skatteloven § 9-2

Har realisasjon funnet sted? Det er det grunnleggende spørsmålet i denne masteroppgaven. Realisasjonsbegrepets innhold beror på en tolkning av legaldefinisjonen som gis i skatteloven § 9-2. Et sentralt mål er å identifisere momenter som er relevante å vektlegge i lovtolkningen, særlig med sikte på tilfeller hvor spørsmålet om realisasjon byr på tvil. Det overordnede spørsmålet blir konkretisert i to underproblemstillinger: Finner det sted realisasjon i forbindelse med gjennomføringen av gjenkjøpsavtaler? Finner det sted realisasjon når eiendomsrett erverves ved hevd?MasteroppgaveJUS399MAJUR-2MAJU