Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them. A large proportion of these individuals are afflictedwith the X-linked form of the condition. To date a total of 87 genes have beenimplicated in the pathogenesis of X-linked mental retardation (XLMR).

No description available.

<p>Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.</p>

In 2013, the US Supreme Court declared isolated gene sequences as ‘products of nature’ and hence, unpatentable subject matter. Paradoxically, the European Patent Office (EPO), relying on the EU Biotech Directive 98/44/EC, does not perceive a problem with patents on isolated human genetic sequences. However, the EPO excludes human embryonic stem cells (hESCs) from being patentable subject matter on the grounds of morality and ordre public. The controversy arises from an understanding that gene patents create a de facto tragedy of the anti-commons. This, in turn, is based on a wider belief that the current statutory regime governing the patent protection of human genetic materials creates expansive property rights, without a proper consideration of the public interest. This thesis tests this proposition by examining and revealing the contextual genesis of these bifurcated reactions by the United States and European jurists. First, it reframes the historical evolution of patented inventions within the biotechnology sector. By adopting the concept of patents as a social contract between the inventor and society, the research reasserts the fundamental aspects of patent law. Second, the subsequent chapters employ this primary premise in order to map out the theoretical arguments for propertizing genetic materials. Finally, the thesis investigates the possibility of policy guidelines by gathering an empirical dataset through questionnaires and interviews directed at key stakeholders. This work maintains that the current statutory regimes in Europe and the US governing the patent protection of human genetic materials can create acceptable property rights. But this is only possible if the regime adopts a purpose-bound approach for human genetic materials. Such an enhanced status quo approach, as adopted in some European jurisdictions, would entail the consideration of public interest values, as articulated through the empirical research, and which has been set out as a draft manifesto.

Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number variations (CNV) can also be identified using the data from the same SNP array. Aiming to identify more disease susceptibility loci for complex diseases, separate GWAS using a case-control design were conducted on anorectal malformations (ARMs) and schizophrenia. ARMs are rare congenital diseases with heterogeneous phenotypes which could probably be explained by the genetic heterogeneity among patients, while schizophrenia is a common psychiatric disorder that is well known for its multigenic inheritance. The GWAS studies on ARM and schizophrenia included 4,369 (patients: N=363; controls: N=4,006) and 1,231 Han Chinese (patients: N=381; controls: N=850) respectively. The two studies were mainly focused on investigating the contribution of rare CNVs to the diseases, involving analyses on global CNV burden, rare CNV association, protein-protein interaction (PPI) network, pathway and chromosomal aberrations. The associations of SNPs with ARMs were also examined. Apart from elucidating the genetic components in these two diseases, a systematic analysis on four CNV detection programs (CNV partition, PennCNV, QuantiSNP and iPattern) was also undertaken. In the study of schizophrenia, a new approach in CNV filtering which was based on latent class analysis was adopted to gather information from multiple CNV prediction programs. The study of ARMs revealed 79 genes which were disrupted by CNVs in patients only. In particular, a de novo duplication of DKK4 (an antagonist of WNT signaling) was identified, and addition of Dkk4 protein was demonstrated to cause ARMs in mice. Another 10 genes uniquely disrupted in ARMs patients are also related to WNT signaling. Interestingly, this pathway was also significantly inferred by CNV in patients with schizophrenia. A different set of genes related to WNT signaling was disrupted in ARMs patients and patients with schizophrenia. WNT signaling is crucial for the development of multiple parts in the embryo. The contribution of different WNT signaling pathways at different development stages may vary. Apart from the WNT signaling pathway, other genes with biological relevance were also implicated in the two studies through gene-network and pathway analyses. The results from these two GWAS studies support our existing understanding of complex diseases that defects in various interacting genes could contribute to the same disease. In summary, the CNV results from the two studies have demonstrated the genetic heterogeneity nature of these two complex diseases. The findings also uncovered a set of putative disease candidate genes, which can be used as reference materials for future genetic research for ARMs and schizophrenia. / published_or_final_version / Psychiatry / Doctoral / Doctor of Philosophy

Human Genetic Enhancement (HGE) has the potential to provide great benefits to a large number of people in terms of alleviating inherited disease and disability and maximizing individual liberty. There are many arguments against research and application of this new technology based on a variety of grounds, including both deontological and consequentialist objections. In this thesis I examine arguments from both of these positions and argue that neither offers a satisfactory justification for prohibiting research into HGE nor do they demonstrate that the application of the knowledge gained from such research is necessarily wrong. I also suggest that there is a strong argument in favor of HGE in that it may offer a way to reduce the amount of disadvantage currently present in our society as a result of genetic disease and disability by addressing the genetic causes of these conditions. Further, I argue that the pursuit of HGE is necessary in order to promote individual liberty and promote equality of opportunity. Finally, I argue that by examining principles that require us to promote individual liberty we can establish the categories of enhancements which we should publicly fund and those that should merely be permissible. / Thesis (Master, Philosophy) -- Queen's University, 2008-09-18 17:05:35.143

<p>Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.</p>

Magister Scientiae (Physiotherapy) - MSc(Physio) / Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda. / South Africa

Call number: LD2668 .T4 1957 E95 / Master of Science

The major advances in the identification of the human genome that took place from the early 1990s onwards triggered a significant increase in the number of patent applications concerning newly discovered human gene sequences that nevertheless failed to disclose the function of the isolated material, and thus did not meet the patent law requirement of industrial application. In order to address this issue the 1998 Directive on the legal protection of biotechnological inventions (Biotech Directive) 1 required patent applicants to disclose the industrial applicability of inventions covering human gene sequences and related proteins at the time of the patent application. Furthermore, the Biotech Directive established functionality-related protection for all types of genetic inventions, thus restricting the scope of protection granted to human genetic inventions to their ability to perform the industrial application disclosed by the applicant. This thesis analyses the implications of the Biotech Directive's approach towards the industrial application of human genes and fragments thereof in respect of three issues: the assessment of the industrial applicability of inventions concerning sequences or partial sequences of human genes; the distinction between discoveries and patentable inventions when the claimed subject matter is human genetic material; and the determination of the scope of protection awarded to patents over genetic information. The thesis argues that the requirement of industrial application can act as an efficient checkpoint for preventing the grant of patents over human genetic discoveries of no practical benefit to society, but also for impeding the issuance of overly broad patents in this field. At the same time, a strict interpretation of this requirement does not imply that patent authorities will systematically overlook the interests of private firms, but it is intended to set a realistic standard that serves to avoid the rise of undue barriers in the pursuit of research and innovation in this industry.