ASSORTATIVE MATING AS A STRATIFICATION PROBLEM IN GENETIC ASSOCIATION STUDIES

Genetic association studies have an important role in public health because they help us understand the biological basis of conditions (e.g. diabetes, obesity) that have important public health implications. They can help us develop and direct both treatments and prevention activities. As both Type II diabetes and obesity tend to run in families, it is reasonable to want to ascertain whether a genetic association or linkage exists between a particular allele or alleles and these conditions. Genetic association studies are, generally, the preferred method for detecting genes that are causal variants of complex diseases like diabetes because they have greater power to detect alleles that are susceptible to disease. However, the Case control genetic association studies are known to be prone to false positive associations in the presence of population stratification. We hypothesize that assortative mating in a given population can lead to a form of population stratification and subsequently false positives. We hypothesize that assortative mating in a given population can lead to a form of population stratification and subsequently false positives. We also investigate the role of gene-gene interactions in the presence of assortative mating in producing spurious results. These hypotheses are tested via studies on 10,000 simulated individuals. Our results show that assortative mating does lead to a greater than expected number of false positives as compared to a situation where there is no assortative mating. Our tests on the role of gene-gene interactions also suggest that they contribute to false positives in the presence of assortative mating

'I do not have the means to speak:' educating youth for citizenship in postconflict Liberia

TB

A Window, Mirror, and Wall: How Educators Use Twitter for Professional Learning

Teachers and other professionals increasingly utilize Twitter as a medium for professional expression and professional learning. These types of Twitter exchanges often take place in formal chats which are moderated by professional organizations or other knowledge brokers in the field. As moderated public online forums become more common, educators may wish to understand the benefits and limitations of this type of professional learning. This paper reports on a study of educators’ discourse in two hosted Twitter chats focused on global education and analyzes the ways in which these types of chats align with research on high-quality professional learning. Results indicate that Twitter chats provide multiple components of high-quality professional learning, namely a focus on content, collaboration, and teacher agency; to a lesser extent, they may provide peer coaching and allow for conversations across a sustained duration. However, other components of meaningful professional learning are not possible in this context, as it is not job-embedded and does not provide active learning or supported opportunities to practice

Linguistically Responsive Teaching in pre-service teacher education: A review of the literature through the lens of cultural-historical activity theory

This article presents an integrated systematic review of scholarship related to preparing preservice teachers (PSTs) to teach multilingual learners in U.S. schools. We drew from cultural-historical activity theory to investigate how teacher educators who focus on preparing PSTs to work with multilingual students attended to the linguistically responsive teaching (LRT) framework. We identified three distinct activity systems, each linked to specific LRT dimensions. The ways in which the components of each activity system integrated LRT have implications for both theory and practice. Specifically, our findings highlight the need for program-wide coherence in teacher preparation and for comparative analysis examining teacher education across diverse policy contexts

AN APPRAISAL OF THE COMPUTING KNOWLEDGE AND SKILLS OF STUDENTS WITH DISABILITIES IN THE UNIVERSITY OF EDUCATION, WINNEBA, GHANA

The study examined the knowledge and skills in using computers by students with disabilities at the University of Education, Winneba (UEW). The study employed the descriptive survey design which used a questionnaire to solicit information from forty-six (46) students who were randomly sampled. The study found out that majority of the students had some knowledge and skills in the use of computers. However, it was established from the results, that many of the students’ knowledge and skills about computers were inadequate for higher education level academic work. Finally, the study found out that the type of disability a person has, does not have any significant influence on their knowledge and skills for computer usage. It was recommended that students with disabilities should have access to specialized Information and Communication Technology (ICT) centre where adaptive services would be organized and delivered to enhance their skills. This ICT centre should be manned by competent ICT personnel who understand the needs of students with disabilities, and whose main responsibilities should be to attend to the technological needs of students with disabilities.  Article visualizations

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann Syndrome

The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense). Two novel FGFR1 mutations were identified, as were 18 new candidate genes including: AMN1, CCKBR, CRY1, CXCR4, FGF13, GAP43, GLI3, JAG1, NOS1, MASTL, NOTCH1, NRP2, PALM2, PDE3A, PLEKHA5, RD3, and TRAPPC9, and TSPAN11. Digenic and trigenic variants were found in 8/48 (16.7%) and 1/48 (2.1%) patients, respectively. NGS with confirmation by Sanger sequencing resulted in the identification of new causative FGFR1 gene mutations and suggested 18 new candidate genes in nHH/KS

OXPAT/PAT-1 is a PPAR-Induced Lipid Droplet Protein that Promotes Fatty Acid Utilization

Lipid droplet proteins of the PAT (perilipin, adipophilin, and TIP47) family regulate cellular neutral lipid stores. We have studied a new member of this family, PAT-1, and found that it is expressed in highly oxidative tissues. We refer to this protein as OXPAT. Physiologic lipid loading of mouse liver by fasting enriches OXPAT in the lipid droplet tissue fraction. OXPAT resides on lipid droplets with the PAT protein adipophilin in primary cardiomyocytes. Ectopic expression of OXPAT promotes fatty acid-induced triacylglycerol accumulation, long-chain fatty acid oxidation, and mRNAs associated with oxidative metabolism. Consistent with these observations, OXPAT is induced in mouse adipose tissue, striated muscle, and liver by physiological (fasting), pathophysiological (insulin deficiency), pharmacological (peroxisome proliferator-activated receptor [PPAR] agonists), and genetic (muscle-specific PPARα overexpression) perturbations that increase fatty acid utilization. In humans with impaired glucose tolerance, PPARγ agonist treatment induces adipose OXPAT mRNA. Further, adipose OXPAT mRNA negatively correlates with BMI in nondiabetic humans. Our collective data in cells, mice, and humans suggest that OXPAT is a marker for PPAR activation and fatty acid oxidation. OXPAT likely contributes to adaptive responses to the fatty acid burden that accompanies fasting, insulin deficiency, and overnutrition, responses that are defective in obesity and type 2 diabetes

Recent developments in genetics and medically assisted reproduction : from research to clinical applications

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.Peer reviewe