scholarly journals Biobanks for Genomics and Genomics for Biobanks

2003 ◽  
Vol 4 (6) ◽  
pp. 628-634 ◽  
Author(s):  
Anne Cambon-Thomsen ◽  
Pascal Ducournau ◽  
Pierre-Antoine Gourraud ◽  
David Pontille

Biobanks include biological samples and attached databases. Human biobanks occur in research, technological development and medical activities. Population genomics is highly dependent on the availability of large biobanks. Ethical issues must be considered: protecting the rights of those people whose samples or data are in biobanks (information, autonomy, confidentiality, protection of private life), assuring the non-commercial use of human body elements and the optimal use of samples and data. They balance other issues, such as protecting the rights of researchers and companies, allowing long-term use of biobanks while detailed information on future uses is not available. At the level of populations, the traditional form of informed consent is challenged. Other dimensions relate to the rights of a group as such, in addition to individual rights. Conditions of return of results and/or benefit to a population need to be defined. With ‘large-scale biobanking’ a marked trend in genomics, new societal dimensions appear, regarding communication, debate, regulation, societal control and valorization of such large biobanks. Exploring how genomics can help health sector biobanks to become more rationally constituted and exploited is an interesting perspective. For example, evaluating how genomic approaches can help in optimizing haematopoietic stem cell donor registries using new markers and high-throughput techniques to increase immunogenetic variability in such registries is a challenge currently being addressed. Ethical issues in such contexts are important, as not only individual decisions or projects are concerned, but also national policies in the international arena and organization of democratic debate about science, medicine and society.

2011 ◽  
Vol 39 (4) ◽  
pp. 577-582 ◽  
Author(s):  
Bartha Maria Knoppers ◽  
Amy Dam

The last few years have witnessed the growth of large-scale, population genomics biobanks, which serve as longitudinal, gene-environment databases for future yet unspecified research. An international consortium, the Public Population Project in Genomics (P3G), builds harmonization tools for such biobanks and has catalogued numerous studies — at least 139 with over 10,000 banked participants and 34 with over 100,000. As their potential use for translational, clinical research draws near, it is opportune to clarify the duties of such biobanks to communicate results to participants. To identify the potential obligations, some demystification of the terminology surrounding the return of results as found in international and national norms on biobanking generally is essential. On the whole, our proposed lexicon is based on a study of norms as found in national and international policies but excludes debates found in the literature.


Blood ◽  
2009 ◽  
Vol 114 (17) ◽  
pp. 3524-3532 ◽  
Author(s):  
H. Bobby Gaspar ◽  
Alessandro Aiuti ◽  
Fulvio Porta ◽  
Fabio Candotti ◽  
Michael S. Hershfield ◽  
...  

AbstractAdenosine deaminase deficiency is a disorder of purine metabolism leading to severe combined immunodeficiency (ADA-SCID). Without treatment, the condition is fatal and requires early intervention. Haematopoietic stem cell transplantation is the major treatment for ADA-SCID, although survival following different donor sources varies considerably. Unlike other SCID forms, 2 other options are available for ADA-SCID: enzyme replacement therapy (ERT) with pegylated bovine ADA, and autologous haematopoietic stem cell gene therapy (GT). Due to the rarity of the condition, the lack of large scale outcome studies, and availability of different treatments, guidance on treatment strategies is limited. We have reviewed the currently available evidence and together with our experience of managing this condition propose a consensus management strategy. Matched sibling donor transplants represent a successful treatment option with high survival rates and excellent immune recovery. Mismatched parental donor transplants have a poor survival outcome and should be avoided unless other treatments are unavailable. ERT and GT both show excellent survival, and therefore the choice between ERT, MUD transplant, or GT is difficult and dependent on several factors, including accessibility to the different modalities, response of patients to long-term ERT, and the attitudes of physicians and parents to the short- and potential long-term risks associated with different treatments.


1994 ◽  
Vol 144 ◽  
pp. 29-33
Author(s):  
P. Ambrož

AbstractThe large-scale coronal structures observed during the sporadically visible solar eclipses were compared with the numerically extrapolated field-line structures of coronal magnetic field. A characteristic relationship between the observed structures of coronal plasma and the magnetic field line configurations was determined. The long-term evolution of large scale coronal structures inferred from photospheric magnetic observations in the course of 11- and 22-year solar cycles is described.Some known parameters, such as the source surface radius, or coronal rotation rate are discussed and actually interpreted. A relation between the large-scale photospheric magnetic field evolution and the coronal structure rearrangement is demonstrated.


2005 ◽  
Vol 44 (03) ◽  
pp. 107-117
Author(s):  
R. G. Meyer ◽  
W. Herr ◽  
A. Helisch ◽  
P. Bartenstein ◽  
I. Buchmann

SummaryThe prognosis of patients with acute myeloid leukaemia (AML) has improved considerably by introduction of aggressive consolidation chemotherapy and haematopoietic stem cell transplantation (SCT). Nevertheless, only 20-30% of patients with AML achieve long-term diseasefree survival after SCT. The most common cause of treatment failure is relapse. Additionally, mortality rates are significantly increased by therapy-related causes such as toxicity of chemotherapy and complications of SCT. Including radioimmunotherapies in the treatment of AML and myelodyplastic syndrome (MDS) allows for the achievement of a pronounced antileukaemic effect for the reduction of relapse rates on the one hand. On the other hand, no increase of acute toxicity and later complications should be induced. These effects are important for the primary reduction of tumour cells as well as for the myeloablative conditioning before SCT.This paper provides a systematic and critical review of the currently used radionuclides and immunoconjugates for the treatment of AML and MDS and summarizes the literature on primary tumour cell reductive radioimmunotherapies on the one hand and conditioning radioimmunotherapies before SCT on the other hand.


1967 ◽  
Vol 06 (01) ◽  
pp. 8-14 ◽  
Author(s):  
M. F. Collen

The utilization of an automated multitest laboratory as a data acquisition center and of a computer for trie data processing and analysis permits large scale preventive medical research previously not feasible. Normal test values are easily generated for the particular population studied. Long-term epidemiological research on large numbers of persons becomes practical. It is our belief that the advent of automation and computers has introduced a new era of preventive medicine.


2018 ◽  
pp. 125-141 ◽  
Author(s):  
S. M. Drobyshevsky ◽  
P. V. Trunin ◽  
A. V. Bozhechkova

The paper studies the factors of secular stagnation. Key factors of long-term slowdown in economic growth include the slowdown of technological development, aging population, human capital accumulation limits, high public debt, creative destruction process violation etc. The authors analyze key theoretical aspects of long-term stagnation and study the impact of these factors on Japanies economy. The authors conclude that most of the factors have significant influence on the Japanese economy for recent decades, but they cannot explain all dynamics. For Russia, on the contrary, we do not see any grounds for considering the decline in the economy since 2013 as an episode of secular stagnation.


2014 ◽  
pp. 124-129
Author(s):  
Z. V. Karamysheva

The review contains detailed description of the «Atlas of especially protected natural areas of Saint Petersburg» published in 2013. This publication presents the results of long-term studies of 12 natural protected areas made by a large research team in the years from 2002 to 2013 (see References). The Atlas contains a large number of the historical maps, new satellite images, the original illustrations, detailed texts on the nature of protected areas, summary tables of rare species of vascular plants, fungi and vertebrates recorded in these areas. Special attention is paid to the principles of thematic large-scale mapping. The landscape maps, the vegetation maps as well as the maps of natural processes in landscapes are included. Reviewed Atlas deserves the highest praise.


2000 ◽  
Vol 151 (3) ◽  
pp. 80-83
Author(s):  
Pascal Schneider ◽  
Jean-Pierre Sorg

In and around the state-owned forest of Farako in the region of Sikasso, Mali, a large-scale study focused on finding a compromise allowing the existential and legitimate needs of the population to be met and at the same time conserving the forest resources in the long term. The first step in research was to sketch out the rural socio-economic context and determine the needs for natural resources for autoconsumption and commercial use as well as the demand for non-material forest services. Simultaneously, the environmental context of the forest and the resources available were evaluated by means of inventories with regard to quality and quantity. According to an in-depth comparison between demand and potential, there is a differentiated view of the suitability of the forest to meet the needs of the people living nearby. Propositions for a multipurpose management of the forest were drawn up. This contribution deals with some basic elements of research methodology as well as with results of the study.


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