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Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
BACKGROUND: Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board...
October 24, 2016: Orphanet Journal of Rare Diseases
Kevin J Galinsky, Po-Ru Loh, Swapan Mallick, Nick J Patterson, Alkes L Price
Analyzing genetic differences between closely related populations can be a powerful way to detect recent adaptation. The very large sample size of the UK Biobank is ideal for using population differentiation to detect selection and enables an analysis of the UK population structure at fine resolution. In this study, analyses of 113,851 UK Biobank samples showed that population structure in the UK is dominated by five principal components (PCs) spanning six clusters: Northern Ireland, Scotland, northern England, southern England, and two Welsh clusters...
October 14, 2016: American Journal of Human Genetics
Kimberley M Kendall, Elliott Rees, Valentina Escott-Price, Mark Einon, Rhys Thomas, Jonathan Hewitt, Michael C O'Donovan, Michael J Owen, James T R Walters, George Kirov
BACKGROUND: The UK Biobank is a unique resource for biomedical research, with extensive phenotypic and genetic data on half a million adults from the general population. We aimed to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance of participants. METHODS: We used Affymetrix Power Tools and PennCNV-Affy software to analyze Affymetrix microarrays of the first 152,728 genotyped individuals. We annotated a list of 93 CNVs and compared their frequencies with control datasets...
August 18, 2016: Biological Psychiatry
Francis Barchi, Madison T Little
BACKGROUND: Ethical and regulatory guidance on the collection and use of human biospecimens (HBS) for research forms an essential component of national health systems in Sub-Saharan Africa (SSA), where rapid advances in genetic- and genomic-based technologies are fueling clinical trials involving HBS and the establishment of large-scale biobanks. METHODS: An extensive multi-level search for publicly available ethics regulatory guidance was conducted for each SSA country...
October 22, 2016: BMC Medical Ethics
Liya Lu, Chaoqiang Jiang, Danny F Mackay, Jill P Pell, Kar Keung Cheng, Tai Hing Lam, G Neil Thomas
OBJECTIVES: We studied the association between secondhand smoke (SHS) exposure and peripheral arterial disease (PAD) in Chinese non-smokers. METHODS: We conducted a cross-sectional study using baseline data from the Guangzhou Biobank Cohort Study: Cardiovascular Disease Sub-cohort Study (GBCS-CVD). Guangzhou residents aged ≥ 50 years were recruited between 2003 and 2008. Baseline data included measurement of ankle brachial pressure index (ABPI) and self-reported smoking status and SHS exposure...
October 20, 2016: Vascular
H Wang, R Y Hu, J M Zhong, Y J Qian, C M Wang, K X Xie, L L Chen, Z Bian, Y Guo, M Yu, Z M Chen, L M Li
Objective: To explore the associations between age at menarche and diabetes in adult women. Methods: We analyzed the baseline data of 32 364 female participants who were aged 30-79 years and had been enrolled into China Kadoorie Biobank (CKB) study from Tongxiang, Zhejiang province. Multiple logistic regression analysis were used to investigate the putative associations after adjusting for potential confounders. Variables of menarche age and others were added to the logistic regression model to evaluate the multiplicative interaction, respectively...
October 10, 2016: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
Q Hu, C Q Jiang, W S Zhang, J J Cheng, L Xu, Y L Jin, S L Rao, H Q Zheng, D Q Lam
Objective: To examine the correlation between body fat percentage (BFP) and general obesity indexes, including body mass index (BMI), waist circumference (WC) and waist to hip ratio (WHR) and calculate the corresponding BFP cutoff values in the middle aged and old people in Guangzhou. The corresponding cut-point of optimal body fat percentage for Guangzhou older population. Methods: Based on the Guangzhou Biobank Cohort Study (GBCS), 3 490 relatively healthy Guangzhou residents aged ≥50 years were selected and were randomly divided into 2 groups...
October 10, 2016: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
Thomas J Hoffmann, Bronya J Keats, Noriko Yoshikawa, Catherine Schaefer, Neil Risch, Lawrence R Lustig
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3' of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0...
October 2016: PLoS Genetics
Ruth C Travis, Angela Balkwill, Georgina K Fensom, Paul N Appleby, Gillian K Reeves, Xiao-Si Wang, Andrew W Roddam, Toral Gathani, Richard Peto, Jane Green, Timothy J Key, Valerie Beral
BACKGROUND: It has been proposed that night shift work could increase breast cancer incidence. A 2007 World Health Organization review concluded, mainly from animal evidence, that shift work involving circadian disruption is probably carcinogenic to humans. We therefore aimed to generate prospective epidemiological evidence on night shift work and breast cancer incidence. METHODS: Overall, 522 246 Million Women Study, 22 559 EPIC-Oxford, and 251 045 UK Biobank participants answered questions on shift work and were followed for incident cancer...
December 2016: Journal of the National Cancer Institute
David Gurwitz
The development and clinical implementation of personalized medicine crucially depends on the availability of high-quality human biosamples; animal models, although capable of modeling complex human diseases, cannot reflect the large variation in the human genome, epigenome, transcriptome, proteome, and metabolome. Although the biosamples available from public biobanks that store human tissues and cells may represent the large human diversity for most diseases, these samples are not always sufficient for developing biomarkers for patient-tailored therapies for neuropsychiatric disorders...
September 2016: Dialogues in Clinical Neuroscience
Ana I Robles, Karina Standahl Olsen, Dana W T Tsui, Vassilis Georgoulias, Jenette Creaney, Katalin Dobra, Mogens Vyberg, Nagahiro Minato, Robert A Anders, Anne-Lise Børresen-Dale, Jianwei Zhou, Pål Sætrom, Boye Schnack Nielsen, Michaela B Kirschner, Hans E Krokan, Vassiliki Papadimitrakopoulou, Ioannis Tsamardinos, Oluf D Røe
The goal of biomarker research is to identify clinically valid markers. Despite decades of research there has been disappointingly few molecules or techniques that are in use today. The "1st International NTNU Symposium on Current and Future Clinical Biomarkers of Cancer: Innovation and Implementation", was held June 16th and 17th 2016, at the Knowledge Center of the St. Olavs Hospital in Trondheim, Norway, under the auspices of the Norwegian University of Science and Technology (NTNU) and the HUNT biobank and research center...
October 19, 2016: Journal of Translational Medicine
Mojtaba Farjam, Hossein Bahrami, Ehsan Bahramali, Javad Jamshidi, Alireza Askari, Habibollah Zakeri, Reza Homayounfar, Hossein Poustchi, Reza Malekzadeh
BACKGROUND: Non-communicable diseases (NCDs) have become the main causes of morbidity and mortality even in rural areas of many developing countries, including Iran. In view of this increased risk, Fasa Cohort Study (FACS) has been established to assess the risk factors for NCDs with the ultimate goal of providing optimal risk calculators for Iranian population and finding grounds for interventions at the population level. METHODS: In a population-based cohort, at least 10,000 people within the age range of 35 to 70 years old from Sheshdeh, the suburb of Fasa city and its 24 satellite villages are being recruited...
October 18, 2016: BMC Public Health
Izabella Surowiec, Lisbeth Ärlestig, Solbritt Rantapää-Dahlqvist, Johan Trygg
OBJECTIVE: The early diagnosis of rheumatoid arthritis (RA) is desirable to install treatment to prevent disease progression and joint destruction. Autoantibodies and immunological markers pre-date the onset of symptoms by years albeit not all patients will present these factors, even at disease onset. Additional biomarkers would be of high value to improve early diagnosis and understanding of the process, leading to disease development. METHODS: Plasma samples donated before the onset of RA were identified in the Biobank of Northern Sweden, a collection within national health survey programs...
2016: PloS One
Peter Jo, Manuel Nietert, Linda Gusky, Julia Kitz, Lena C Conradi, Annegret Müller-Dornieden, Philipp Schüler, Hendrik A Wolff, Josef Rüschoff, Philipp Ströbel, Marian Grade, Torsten Liersch, Tim Beißbarth, Michael B Ghadimi, Ulrich Sax, Jochen Gaedcke
Translational research relies on high-quality biospecimens. In patients with rectal cancer treated preoperatively with radiochemotherapy tissue based analyses are challenging. To assess quality challenges we analyzed tissue samples taken over the last years in a multicenter setting. We retrospectively evaluated overall 197 patients of the CAO/ARO/AIO-94- and 04-trial with locally advanced rectal cancer that were biopsied preoperatively at the University Medical Center Goettingen as well as in 10 cooperating hospitals in Germany...
October 18, 2016: Scientific Reports
Marianna J Bledsoe, Marianne Henderson, Anne-Marie Tassé, Bartha M Knoppers
No abstract text is available yet for this article.
October 2016: Biopreservation and Biobanking
Rebecca O Barnes, Katheryn E Shea, Peter H Watson
As health research increasingly relies on biospecimens and associated data, new demands have emerged for biorepositories to provide assurances of the quality of their overall operations, not just assurances of the quality of the biospecimens and data that they hold. The biobanking community has responded in various ways, including the creation of two different programs to disseminate biobanking best practices. This article describes in detail the Canadian Tissue Repository Network (CTRNet) Biobank Certification Program and the College of American Pathologists (CAP) Biorepository Accreditation Program...
October 14, 2016: Biopreservation and Biobanking
Matthieu Hanf, David Chiron, Sophie de Visme, Cyrille Touzeau, Hervé Maisonneuve, Henry Jardel, Catherine Pellat-Deceunynck, Martine Amiot, Steven le Gouill
BACKGROUND: Mantle Cell Lymphoma (MCL) is often associated with progression, temporary response to therapy and a high relapse rate over time resulting in a poor long-term prognosis. Because MCL is classified as an incurable disease, therapeutic resistance is of great interest. However, knowledge about the biological mechanisms underlying resistance associated with MCL therapies and about associated predictors remains poor. The REFRACT-LYMA Cohort, a multicenter prospective cohort of patients with MCL, is set up to address this limitation...
October 14, 2016: BMC Cancer
Laura M Beskow, Li Lin, Carrie B Dombeck, Emily Gao, Kevin P Weinfurt
PURPOSE: To determine the individual and combined effects of a simplified form and a review/retest intervention on biobanking consent comprehension. METHODS: We conducted a national online survey in which participants were randomized within four educational strata to review a simplified or traditional consent form. Participants then completed a comprehension quiz; for each item answered incorrectly, they reviewed the corresponding consent form section and answered another quiz item on that topic...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Aoife Hayes, Áine Hennessy, Janette Walton, Breige A McNulty, Alice J Lucey, Máiréad Kiely, Albert Flynn, Kevin D Cashman
BACKGROUND: Data from a nationally representative sample of 18- to 64-y-old Irish adults conducted in 1999 highlighted low phylloquinone intakes. That survey, however, did not include older adults (aged ≥65 y), a subgroup that is potentially at higher risk of low phylloquinone intakes, or a biomarker of vitamin K status. OBJECTIVES: The objectives of this work were to measure the phylloquinone intake and its adequacy and the serum percentage of undercarboxylated osteocalcin (%ucOC), a vitamin K status biomarker, in a nationally representative sample of Irish adults aged 18-90 y, and to compare these newer data on dietary phylloquinone in adults aged 18-64 y with those from the previous survey...
October 12, 2016: Journal of Nutrition
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