Qatar Foundation Annual Research Forum Volume 2010 Issue 1

This study compares the rapid evolution of Qatar to that of the disproportionally influential small states of Switzerland, Lebanon and Singapore. Though set apart by history and circumstance, these states share a set of common traits, including a limited size, high vulnerability to external shocks, diplomatic dexterity, a salient presence in conflict mediation, high reliance on imported migrant labor, export-led growth, as well as a drive to maintain an efficient infrastructure and a skilled human capital base in highly competitive economies. As of 2009, Switzerland ranked as the world's most competitive economy, Singapore towered as Asia's number one, while Qatar topped the Middle East and North Africa.

Sources of success and vulnerability were two sides of the same coin. Openness to global trade and diplomacy allowed each state to market its skills and products beyond its size. At the same time, the paper contends that rapid global integration could lead to domestic dislocation, triggering compensatory governmental measures in response. The paper examines the respective responses of each state to the global credit crunch, spreading consumerism and geopolitical instabilities. The recent 2008 global recession acutely highlighted both the predicament of vulnerability, and the potential for superior resilience exhibited by these small states. The paper argues that while each state departed from country-specific comparative advantages (i.e. Qatar's hydrocarbon reserves, Singapore's port and high-tech industries, Switzerland's quality manufacturing and banking, Lebanon's financial services, education and tourism), the respective political leaders have espoused a similar paradigm of comprehensive social development. This study identifies the potential perils emanating from both within and without its borders, which, if averted, may allow Qatar to dispel the ‘rentier curse’ by establishing itself as a proactive leader in the fields of good governance and human development, further closing the gap with global frontrunners such as Switzerland and Singapore.

The Bioethics Research Library at Georgetown University and Georgetown's School of Foreign Service Library in Qatar are working together to establish an information resource covering Islamic thought on medical and scientific ethics. We plan to include both historical and contemporary writings in English and Arabic, as well as in other languages, when possible. Ultimately, we intend for this three-year initial project to produce not only an online database, but also to form a core collection within Qatar's Central Library and to enhance the Bioethics Research Library's collection in Washington. All of these efforts are focused on serving researchers and educators in the region and around the world.

Staff members who are working on the project are fluent in Arabic or Farsi, and are educated in Islamic Studies, librarianship, and information technology. A variety of professional and organizational contacts are being pursued in order to identify and acquire relevant scholarly material. Although some of the foreign-language cataloging has commenced, we continue to explore database software appropriate for displaying accurately Arabic and Farsi characters as well as related transliteration. English-language cataloging and indexing is well underway using existing software.

In the first year of the project, we identified 646 documents in English, Arabic and Farsi and began indexing them, using a specialized vocabulary to address new topics. “Keywords of Special Interest to Islamic Medical and Scientific Ethics (IMSE) Database Searchers” is available online. New terms have been integrated into the current “Bioethics Thesaurus,” offered in full as an online thesaurus database at http://bioethics.georgetown.edu/databases/bt/index.htmlAdditional access terms are suggested in the Keywords list to help searchers.

We invite you to explore the Islamic Medical and Scientific Ethics database at http://bioethics.georgetown.edu/collections/islamic/index.html and are eager for your feedback.

This paper is based on a research study conducted to explore the effectiveness of the students recruitment/marketing methods used to recruit students in Qatar's Education City branch campuses. The desire of the author is that university branch campuses in Qatar and elsewhere may be stimulated to revisit their marketing and student recruitment plans and activities to better reach prospective students. The paper also explores the difficulties and challenges of marketing and student recruitment these institutions encounter in an attempt to provide ways to overcome these problems and make marketing and student recruitment more effective.

Previous research on marketing and student recruitment methods in higher education as well as the marketing concept, effective marketing, relationship marketing, student enrolment behavior theory and collaboration in marketing are examined. Following the review of literature, data on marketing and student recruitment methods adopted by each branch campus were collected via a questionnaire. The questionnaire was sent to marketing/admissions staff of the branch campuses and semi-structured interviews were conducted for the same population in addition to a few public affairs officers and Education City officials. Detailed information about how effective each marketing method is and the challenges associated with each was collected and analyzed. Some documents and website pages were also examined.

The responses of the questionnaire and interviews revealed that some methods, such as school visits, counselor events, information sessions and a dedicated exhibition for Education City institutions are very effective in student recruitment. On the other hand, educational exhibitions and websites were found not very effective. Student activities recently adopted by some institutions are yet to be assessed. Additionally, the research indicated that the challenges marketing and admissions staff encounter are logistical, administrative, financial, cultural and language-related. Some recommendations were offered to overcome these challenges and enhance the effectiveness of marketing and student recruitment at Education City institutions.

In undertaking any study, the National Human Rights Commission starts from the reality of the people's daily life. This stems from the fact that the objective of the legal texts related to human rights is to provide protection and empowerment to those who represent their primary object, i.e. human beings.

In order to achieve this goal, this study includes academic aspects, national legislations and international standards, in addition to methodical field research.

This study begins with the definition of Article No. (4) of the International Convention on the Rights of Persons with Disabilities, which lays the foundation for the research methodology which was based on consultation with people with disabilities, their parents and specialists, in addition to teachers of special education and their assistants at the centers that deal with people with special needs.

Chapter I of the study includes an explanation of the concept of equal opportunities and the emergence of the idea of ‘integration’ as a fundamental right of persons with special needs in order to give them equal opportunities with their peers, therefore, the meaning of educational integration was explained, along with its conditions, benefits and its importance.

Chapter II includes an explanation of the types of disability through brief academic definitions, followed by statistics on disability in the State of Qatar. Further, the study demonstrates the causes of disability, such as genetic factors in the marriage between relatives, in addition to environmental and health impacts.

Chapter III of the study marks the beginning of the conducted field research for a number of institutions in Qatar, such as Qatar Society for People with Special Needs, the Shafallah Center and Al-Nour Institute for the Blind, and others.

Field research was based on spending a long time at the centers for people with special needs, conducting discussions and asking detailed questions. Disabilities discussed include motor disabilities such as polio to audio-visual disabilities, autism and mental retardation with various levels of intensity in addition to cerebral palsy and rare disabilities. This study has documented the services claimed to be provided by every center in interviews conducted with the managers and workers, then moved on to direct observations, extrapolation of answers, then comparing all such data to national legislations and international standards contained in the Convention on the Rights of Persons with Disabilities.

As a result, there were a number of positive and negative remarks regarding the activities of these centers and the services they provide. The study was not restricted to methodical criticism, but has also provided each center with recommendations and videos, in order to avoid the shortcomings found. In its final part, Chapter IV, the study has concluded with a general outcome that disability represents a concept that is still under development, and the State has made already some achievements in caring for persons with special needs, comparing to the period of time when the State began to pay attention to the issue of disability. Nevertheless, there is still a lot of work to be done in this regard. The study concluded with fifteen recommendations of a practical nature, to advance the conditions of people with special needs.

This paper presents an overview of Qatari citizens’ attitudes toward expatriate and labor migrant workers in Qatar. It is based on the first ‘scientific’ survey of Qatari citizens and residents (expatriates and labor migrants) conducted by the Qatar University Social and Economic Survey Research Institute (SESRI) in May/June 2010. The main objectives of this paper were threefold: first, to assess Qatari attitudes towards the presence of these expatriate and labor migrant workers in Qatar. Do Qatari citizens support or oppose the restrictions on the number of foreign workers in the country? How do they evaluate the number of expatriate and labor migrant workers present in the country? Second, to evaluate whether these attitudes translate into negative or positive attitudes toward migrant workers and their contribution to Qatar? Do Qatari citizens think that expatriate and labor migrant workers strengthen their country and help to build its economy, or do they think they weaken the country and put a strain on its resources? Finally, the paper will present and analyze Qatari citizens’ attitudes toward the sponsorship system or Kafala. Do Qatari citizens support the change of the sponsorship system to make the migrant workers more dependent on their employees, less dependent on their employees, or do they want to maintain the status quo. The paper makes use of univariate, bivariate and multivariate analyses and differences will be determined using chi-squared and t-tests. The mean number of responses to certain questions will be compared across the demographic groups to highlight subgroup differences.

The State of Qatar has exerted relentless efforts towards activating the participation of Qatari women in the use of information and communication technology (ICT) in general and the use of the internet in particular. Female participation and involvement in this field is considered to be one of the priorities included in the plans and projects of the Qatar's ICT Strategy. However, research endeavors which analytically address the use of the internet by Arab women in general, and Qatari women in particular, are rather scarce.

The main purpose of this research paper, representing a national survey sponsored by Qatar's SCFA, is to investigate the patterns of use and utilization of the internet by Qatari women. In its attempt to achieve this purpose, the paper explores the impact of social, marital, educational, and economic status of Qatari women on their use of the internet. It also identifies Qatari women views and attitudes towards the internet as well as the difficulties and obstacles that impede their use. Hence, it provides a clear understanding of Qatari women's utilization patterns of the internet concerning the frequency, aims, methods of use, and the impact of this use on various aspects of their daily life.

The study adopts an analytical descriptive method. A survey instrument in the form of a questionnaire was designed and administered as the main data collection tool for the purpose of this study. The validity and reliability of this instrument were determined using referees validation and pilot trial sample respectively.

The main factions of Qatari women representing the population of the study include government employees, private sector employees, public sector employees, university students, and housewives. A total of 2367 questionnaires were distributed among a stratified random sample of Qatari women in 26 of the major employers in Qatar including: ministries, universities, banks, financial organizations, and major corporations such as QTEL, HMC, and QP. The response rate was relatively high, 1618 questionnaires were returned representing a response rate of 68.3%. Both descriptive and inferential statistics techniques were employed for the purposes of data analysis.

Although Qatari females have increased their economic participation and reached remarkable educational attainment over the last decade, this success does not run parallel with balanced representation in management positions. Accordingly, this study was initiated with the aim of identifying the main organizational constraints encountered by Qatari females throughout their careers. The study revealed that although Qatari females have made good progress at medium and lower levels of management, they are still very poorly represented in senior management levels. It is also indicated that no discrimination is made against Qatari females in terms of selection and recruiting, working hours, training, and engagement in critical projects and compensation. Specifically, the study found that both gender specific and differences failed to explain the low representation of Qatari females in top managerial positions. However, it was reported that the promotion of Qatari females within organizations is still lagging behind. Gender-specific issues, such as females’ family commitments, were reported as the main constraint to their promotion from the male perspective, whilst gender-differences, such as uncertainty of real increased responsibilities and authority levels, were the main constraints to female promotion from the females’ perspective. In the absence of major organizational discrimination, this study concludes by recommending the greater inclusiveness of Qatari females in decision-making positions. The paper also suggests that greater accountability of organizations to advance females should be considered critically in order to ensure the advancement of Qatari females to the top.

This study attempts to answer a key question which is the subject matter of this research problem: what are the lessons learned from the experience of the Caliph Omar Ibn al-Khattab as a model for enlightened leadership and good governance in the management of a famine crisis? The question is further subdivided into the following questions:

• 1:  What is the role of leaders in crisis management?
• 2:  What are the characteristics of the role played by the Caliph Omar Ibn al-Khattab in managing the crisis in the Year of Famine?

To answer these questions, the study was divided into four chapters, an introduction and a conclusion. Chapter 1 - discusses the concept of crisis management, Chapter 2 - the concept of leadership, Chapter 3 - the concept of good governance while Chapter 4 addresses the management of the crisis in the Year of Famine and the model of good governance of Caliph Omar ibn al-Khattab, and highlights the leading role of the State of Qatar and its civil society. Three methodological approaches were used: theoretical grounding of concepts, the purposes of Islamic Sharia and a comparative approach.

The study reached a number of conclusions, the most important of which are the emphasis on the importance of the political role of leadership, and that the concept of good governance was shown in the model of the Caliph ibn al-Khattab through sacrifice and responsibility.

Qatar's future vision, named Qatar 2030, is forecasting an economy based on knowledge and creativity rather than depletable natural carbon resources. Knowledge and creativity are perhaps the most important factors in the future of a city's economy, and there is a growing interest in the concept of the “knowledge and creative city”. A knowledge and creative city is not just a regular city. It is a growing space of exchange and optimism in which each and everyone can devote themselves to personal and collective projects and aspirations in a climate of dynamism, harmony, and creativity. The main purpose of this research is to explore the ‘knowledge city’ concept in depth. It will discuss the principles of a knowledge city, and portray its distinguishing characteristics and processes. A solid argument will be constructed to illustrate that the concept of knowledge cities is rooted in the urban, cultural structure of traditional Arab cities. Therefore an attempt to foster this concept in today's Arab/Middle Eastern cities would not be possible by building isolated technological statements scattered around the city. Alternatively, the rise of the network society, global networks, linked cities and the existence of smart communities should construct the basis for shaping Arab Knowledge Cities. A focus on Doha as an emerging knowledge and creative city amid the Middle Eastern cities will be included to examine the main hypothesis of the research.

‘What are the qualities of future cities?’ becomes a crucial question and its answer creates a challenge for architects, urban designers, planners, developers, and decision makers around the world. This research will answer this question by articulating a new matrix for knowledge and creative city formation. Doha will be used as a model for such a new paradigm of knowledge-based urban design and development in the Middle East. The Middle Eastern cities are not only exceptions, but would require major social transformations to join the knowledge economy era.

People and major projects are vitally important to the future of Qatar. The development of methodologies is important to the research community. This study brings together people, megaproject and research methodology by investigating in detail the interactions of people and project management systems at the conceptual cost estimate stage in order to identify implications and improvements. The research problem has a number of distinct dimensions; technical and human aspects operate and interact at the different levels of the individual, project team, organization and society. In addition, external factors, the nature of the project and the approach to project management also impact on the events and interactions involved. The problem situation generates the following objectives; to identify the technical and people factors and issues influencing the preparation and application of conceptual cost estimates, to understand how these factors interact, to ascertain the relative importance of different factors at different levels and to assess the implications for theory and practice of project management. The study will investigate: how conceptual cost estimates are currently produced and used in practice, including estimating techniques and software used; what factors influence their use, in particular factors related to people; how these factors interact and which exert more influence on the process; and finally, the theoretical and practical implications of this study for communities of practice, project management practitioners and academics. A wide-ranging literature review uncovered the complexity of the field. It also highlighted the need for an innovative approach to methodology, involving activity theory at the data collection stage and grounded theory and human factors error analysis as well as activity theory at the data analysis stage in order to identify the strengths and weaknesses of these different analyses in terms of the information they yield. It is argued that in management research, new insights require creative yet academically robust approaches that address multiple dimensions and perspectives of the complex and often ambiguous socio-cultural contexts situations they seek to analyse. The data analysis in this study will view the findings through a variety of theoretical lenses in a novel approach to capturing complexity.

Hereditary hearing loss is a common genetic disorder accounting for at least 60% of prelingual deafness in children. Most cases (70%) are nonsyndromic and are not associated to other signs or symptoms, while the remaining 30% are syndromic. Nonsyndromic hereditary hearing loss has different patterns of inheritance. The most common one is autosomal recessive. This accounts for 75%-85% of the cases. Another 15%-25% of cases are inherited in an autosomal dominant (DNFA) pattern, while the remaining 1%-2% is inherited as X-linked disorder. Several mitochondrial mutations are also reported of which 1555A>G in the 12S rRNA gene is a common cause of mitochondrial-associated deafness in nonsyndromic progressive sensory neural hearing loss and its aminoglycoside induced state.

The two major genes for recessive forms are GJB2 and GJB6, which belong to the connexin family. GJB2 and GJB6 code for connexin 26 and connexin 30 proteins, respectively.

Here, we report for the first time results of a study in which a series of 120 patients affected by nonsyndromic hereditary hearing loss from 100 Qatari families were screened for mutations in GJB2 and GJB6 genes and the 1555A>G mitochondrial variant. 4 patients carried 35delG mutation, 5 patients the IVS1+ 1G GJB6 mutations or the 1555A>G variant.

These findings clearly demonstrate that GJB2, GJB6 and 1555A>G account for a minor proportion of nonsyndromic hereditary hearing loss in the Qatari population and further strengthen the need to search for causative genes in our population. Results presented here in combination with other molecular epidemiology data contribute to efforts for establishing preventive strategies and developing more targeted therapies.

People of the Qatari peninsula represent a relatively recent founding by a small number of families from three tribes of the Saudi peninsula, Persia, and Oman, with some African admixture. To assess the combination of this founding effect and first-cousin marriages on Qatar's population genetic structure, in a collaborative program of Weill Cornell-Qatar and Weill Cornell-New York, Cornell University and Qatar University, we assessed DNA samples from self-reported Qatari nationals using Affymetrix SNP Array 5.0 to obtain genotype calls of nearly 500,000 single nucleotide polymorphisms (SNPs) in each individual. Principal component analysis was performed along with samples from the Human Genetic Diversity Project dataset, revealing three clusters of genotypes whose proximity to other human population samples is consistent with Arabian origin, a more eastern/Persian origin, and African admixture. The extent of linkage disequilibrium is greater than that of African populations, and runs of homozygosity reflect substantial consanguinity. Despite the fact that the SNPs have a bias toward SNPs common in Europeans, the data strongly support the notion that the Qatari population will provide a valuable resource for the mapping of genes associated with complex disorders. This approach is being tested in samples of the 3 Qatari genomic clusters of healthy vs individuals with type 2 diabetes, a disorder with a high incidence in the Qatari population. To provide a basis for these studies, we have initiated a detailed assessment of the 3 clusters of Qatari genotypes using exome capture and massive parallel sequencing. We expect that these data will provide an invaluable resource for the adaptation of “personalized medicine” for the assessment of risk and the rational use of therapies for the Qatari population.

The capillary electrophoresis (CE)-mass spectrometry (MS) interface is anticipated to have pivotal roles to play in biomarker discovery, elucidation and validation, and in diagnostics, as well as in drug discovery. We are developing a CE-MS system as the natural extension of our Label-Free Intrinsic Imaging (LFiI™) platform, allowing a large increase in analytical power.

One of the most powerful analytical tools in bio-analytical science applications is the mass spectrometer, allowing identification and extraordinary resolving power. However, this instrument too has shortcomings – it really needs a separation system ahead of it. Traditionally liquid chromatogaphy (LC) or 2D-gel separation have been coupled to MS with relative robustness. However LC techniques are not ideally suited to the analysis of biomolecules, with the use of denaturing solvents, expensive columns etc. while flat gel systems have serious shortcomings in sensitivity, reproducibility, dynamic range, quantification and throughput. These are largely overcome with capillary approaches, such as the Label Free Intrinsic Imaging system, the Peregrine, developed by deltaDOT Ltd of London.

The CE-MS interface being developed by deltaDOT QSTP (Qatar Science and Technology Park) will be based on our real-time pattern recognition known as ‘predictive trajectories’ (‘PT’) and biomolecular switching on the LFiI platform, to allow specific protein bands, selected ‘on the fly’, to be separated and quantified, before they undergo trypsin digestion, injection and full MS analysis in a Waters high-definition mass spectrometer (‘Synapt’). Such an interface considerably reduces the system noise by giving a switch opportunity to analyse selected bands of interest from the bulk of background buffer and highly concentrated proteins of low interest. Another significant advantage of such an approach would arise from a more coherent signal where peptide fragments of the same protein would elute together, as opposed to traditional liquid chromatography where any peptide fragments could come from any proteins from the sample, requiring heavy and slow analyses processing.

Based on work in our QSTP labs, we present preliminary data of analyses undertaken with partners in Qatar University on a range of proteomic targets and other analytes. We show how the unique combination of LFiI + PT + HDMS Q-Tof can provide a significant enhancement in analytical power.

Transient Receptor Potential (TRP) ion channels are formed by the juxtaposition of either homomeric or heteromeric assembly of four TRP subunits. TRP proteins have six transmembrane domains (TM) and a P-loop located between TM5 and TM6 that defines the channel pore. So far 30 different subunits, sharing as low as 20% homology, have been identified in mammals and classified in 6 families. Although heterotetramers can be formed within a family, the assembly of subunits from members of different families was thought to be unlikely. Here using biochemical and electrophysiological techniques we evaluated the interaction between xTRPV6 and xTRPC1 overexpressed in Xenopus oocytes. Western blot analysis of oocytes lysates revealed that the native cells expressed both xTRPC1 and xTRPV6. Oocytes were then injected with RNA encoding the two subunits associated or not with protein tags to allow easier immunoprecipitation. The later experiments revealed that xTRPC1 and xTRPV6 expressed in oocytes co-immunoprecipitate. The expression of solely xTRPC1 did not result in a detectable ionic current, whereas xTRPV6 injected oocytes displayed large inward rectifying cationic currents. Ion substitution experiments revealed that the xTRPV6 channel was more permeable to Mg²⁺ ions than Ca²⁺, a characteristic opposite to its mammalian counterpart. Co-expression of both subunits resulted in an ionic current mainly carried by Mg²⁺ ions. Experiments are now being performed in oocytes and in a human cell line to help us further understand Mg²⁺ and Ca²⁺ homeostasis and the contribution of different TRP subunits assemblies to it.

Genetic research raises ethical issues that differ in many ways from those that arise in other kinds of human subject research.

Aside from the generally low likelihood of injury from drawing blood, the harms that might result to subjects once the genetic data is obtained range from minor to major, from physiological to psychosocial and even economic.

Disclosure of results may cause loss or increased cost of health and/or life insurance, discrimination and stigmatization.

In this presentation, I am going to discuss the issue through the followings:

1. Privacy and confidentiality
   • Unlike other kinds of health data, genetic information applies to or is about more than one person. (parents, siblings, children, and perhaps others).
   • Research that includes follow-up studies requires that a subjects unique information be linked to the genetic information.
   • For this and other reasons, many investigators seek to unlink personal identifiers from genetic data or biological specimens.
   • Successful unlinking reduces or eliminates some threats to privacy and confidentiality.
2. Informed consent
   • The participant should be adequately informed.
   • Consent should be free from coercion or undue influence.
   • The participant should be fully competent.
3. Risks of harm
   • The idea of testing can cause pre- and post-test anxiety.
   • Disclosure of results may result in employment and social bias, discrimination and stigmatization.
   • Family members of the index subject may face similar risks of harm.

The presentation also tackles the subject of research on stored biological samples and the ethical issues, with discussion of the laws and regulations applicable.

Psoriasis is a chronic inflammatory skin disease posing a considerable world-wide health problem due to its high prevalence, associated morbidity and high health-care costs. It is a multifactorial “complex” disorder, with compelling evidence for a genetic predisposition.

Majeed syndrome is a Mendelian disorder with a consistent phenotype and its causative gene can be examined for its role in the more common bone and skin inflammatory disorders of complex etiology. Majeed syndrome is caused by mutations in LPIN2.

Many observations have implicated LPIN2 in the genetic etiology of psoriasis. Based on these observations, we hypothesize that variations in LPIN2 play a role in the susceptibility to development of psoriasis and that LPIN2 is the psoriasis susceptibility locus on 18p.

In our previous study, we identified 6 coding variants that may be associated with psoriasis due to the fact that they change evolutionary conserved amino acids and they are present in the general population at a very low allele frequency. However, the ultimate evidence of their causation of the phenotype is to prove that there is a change in protein properties or function with the molecular variations. One of the aims of the current work is to shed light on whether each identified LPIN2 mutation has an effect on the integrity of the properties of the Lipin2 protein and therefore its function.

The wide type and six different cDNA LPIN2 clones, each harboring one of the six described variations were successfully synthesised after codon optimisation for maximum expression in yeast.

The LPIN2 gene and two mutants were excised from its original construct and inserted into similarly digested pYES2. The newly formed constructs were transformed into competent cells of Saccharomyces cerevisiae for protein expression. Our preliminary analyses using SDS gel electrophoresis and Western blot indicate that the wild type and the two mutants are expressed in S. cerevisiae but at a low level. Optimization of the expression as well as expression of these genes in different expression system is being carried out. The recombinant protein of the wild type LPIN2 and the two mutants will be subjected to circular dichroism and fluorescence measurements to study the effect of each mutant on the folding and therefore the function of the protein.

Evidence in healthy sleepers suggests the glycemic index (GI) can mediate changes in sleep onset latency, given the availability of tryptophan to the brain (i.e. TRP/LNAA ratio) is increased after high GI carbohydrate-only food. However, these meals have limited clinical application given the high glycemic load (GL) and insulin responses. Therefore, we investigated the efficacy of a mixed macronutrient high GI (MHGI) compared to an isoenergetic (∼1915 kJ) low GI (MLGI) meal taken three hours prior to habitual bedtime to improve sleep quality in participants meeting research diagnostic criteria for insomnia. Four men and four women (n=8) were randomized to the MHGI or MLGI meal for two consecutive nights. Blood samples were taken prior to the meal, and 60, 120, 180 min after eating. Subjective (sleep diary) and objective (polysomnography, PSG) sleep was also measured each night. The individual 10cm visual analogue scales indicate that meal palatability was identical for both meals; which were of good taste (average 7.8cm); meal satiety was maintained until bedtime after the MHGI meal (>5cm), whereas after the MLGI meal satiety ratings in men were low (<5cm); and the average meal energetic load (kJ/kg) was greater for women (33.0 ± 4.1) than men (25.4 ± 3.8; p<0.05). Postprandial measures indicate glucose was larger after the MHGI meal but there was no difference in insulin response; the peak percentage rise in plasma TRP/LNAA from baseline after the MHGI meal (17%) was substantially but only marginally different than the MLGI (8%) meal (p = 0.12); postprandial serotonin was unaltered. The participant group self-reported (5pt Likert scale) feeling more rested after the MHGI (2.8) compared to the MLGI meal (2.3; p<0.05); also ratings were higher in women (3.0) than in men (2.6; p<0.05). There were no differences in PSG sleep variables. This study demonstrates symptoms of insomnia are improved, especially in women, after a high GI mixed macronutrient meal. Given the present data, we suggest the possibility for a physiological threshold within the postprandial plasma TRP/LNAA response that must be surpassed in order to promote measurable changes to serotonin and PSG sleep. Further studies should evaluate the potential long-term risks and benefits of habitual mixed macronutrient high GI meals to improve sleep.

Smell is an essential sense that allows animals to find food and mates while avoiding predators. In humans smell is considered an aesthetic sensory modality, but olfactory disorders may presage neurological disease including Parkinson's, Alzheimer's, and schizophrenia. The odorant receptors (ORs) comprise the largest gene family in mammals and endow an animal with the ability to smell. Critical to the development and function of olfaction is the regulation of OR gene transcription, with each sensory neuron selecting just one OR for expression, at random, from only one allele. While recent experiments have brought the outlines of this remarkable process into focus,the core mechanism has remained obscure. Using a genetic approach in mice we present data that supports a model of single OR gene choice initiated by infrequent, stochastic transcriptional activation and governed by feedback suppression mechanism.

In the face extreme requirements for diversity, cells and organisms have evolved stochastic processes of gene regulation. Such mechanisms may allow for the maximal exploration of critical biochemical, genetic, or cellular spaces and maximize the informational output of the genome. The pursuit of the solution to this question of gene regulation has captivated the biomedical research community - not only in the area of neurobiology. The elucidation of this problem will shed light on the establishment and function of this sensory system and also further our understanding of the regulation of the largest gene family in mammals. Additionally, these findings will have central relevance for other examples of stochastic gene regulation such as the expression of the lymphocyte antigen receptors, X chromosome inactivation, for diverse disease-related processes such as trypanosome vsg and malaria var gene switching, and the functional (epigenetic) loss of heterozygosity in cancer; all of which likely depend on complex transcriptional processes.

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. They include familial Mediterranean fever; the tumor necrosis factor receptor–associated periodic syndrome; the hyper-IgD syndrome; a syndrome of pyogenic arthritis, pyoderma gangrenosum and acne; the cryopyrin-associated periodic syndromes; chronic recurrent multifocal osteomyelitis and others. A new autoinflammatory syndrome of skin and bone caused by recessive mutations in IL1RN, the gene encoding the interleukin-1–receptor antagonist, has been recently described and has been named deficiency of the interleukin-1-receptor antagonist, or DIRA.

Three unrelated patients with symptoms suggestive of DIRA were referred to our laboratory. The three patients had skin and bone inflammation since birth manifested as pustulosis and chronic recurrent multifocal osteomyelitis. The course of the disease was progressive with chronic sequelae. Two patients were from Brazil and the third is from Palestine. We identified a novel homozygous inframe deletion of 15 bases (c.213-228delAGATGTGGTACCCAT; p.72-77delDVVPI) in the two unrelated patients from Brazil. In the Palestinian patient, a homozygous nonsense mutation (c.160C>T; p.Q54X) was identified. This mutation has been described before in a family from Lebanon, which probably reflects on a founder effect in Middle Eastern populations.