Recent patents on DNA & gene sequences最新文献

Musculoskeletal soft tissue injuries such as Achilles tendinopathy and anterior cruciate ligament ruptures are common among elite athletes, recreational athletes and physically active individuals. The consequences of injury may be devastating and prevent the recreational or competitive athlete from reaching their potential or lead to a premature end to their careers. Although these injuries have been well described at a clinical level, the biological mechanisms causing these injuries are poorly understood. A further understanding of the biological mechanisms underlying the injury will assist the treatment and management of these injuries. In addition, understanding the biology is an important prerequisite in developing models that can be used to effectively identify risk, as well as, implement personalized prevention, treatment and rehabilitation programmes. Both intrinsic, including genetic variants, and extrinsic risk factors have nevertheless been implicated in the aetiology of these injuries. To date, several patents have been filed which involve the use of specific polymorphisms and regions within specific genes to be used in a genetic test for either tendon or ligament injury risk. The objective of this manuscript will be to review the evidence for the genetic predisposition to soft tissue injury, as well as the application of this data in the prevention, treatment and management of musculoskeletal soft tissue injuries.

Patented genetic technologies such as the ACTN3 genetic test are adding a new dimension to the types of performance enhancement available to elite athletes. Organized sports organizations and governments are seeking to prevent athletes' use of biomedical enhancements. This paper discusses how these interdiction efforts will affect the use and availability of genetic technologies that can enhance athletic performance. The paper provides a working definition of enhancement, and in light of that definition and the concerns of the sports community, reviews genetic enhancement as a result of varied technologies, including, genetic testing to identify innate athletic ability, performance-enhancing drugs developed with genetic science and technology, pharmacogenetics, enhancement through reproductive technologies, somatic gene transfer, and germ line gene transfer.

The United States Supreme Court recently issued an opinion regarding the patentability of claims directed to diagnostic methods in Mayo Collab. Service v. Prometheus Lab., Inc. In this opinion, the Supreme Court held that correlations between metabolite levels in the human body and either therapeutic efficacy or adverse effects are unpatentable laws of nature. It further found that a patent claim to a method including such a correlation is unpatentable if the remainder of the claim contains only conventional and well-known steps. The Prometheus decision creates uncertainty regarding the scope of patentable subject matter, particularly in the fields of diagnostic and personalized medicine, that will remain until future cases apply this new doctrine.

Personal genetic testing which is not strictly related to medicine or health is becoming more and more popular covering areas from ancestry, genealogy, nutrition& lifestyle and more recently sports and exercise. The reasons are compelling - if it were possible to read in our genes our potential sporting attributes and how to achieve them it would be valuable information. But is it possible? This overview will look at the current situation and future prospects the authors believe that there is utility in sports genetic testing exactly what can be interpreted from our genetic results needs to be precisely defined and limited to what has been demonstrated by repeated scientific studies. Current areas of interest include optimizing exercise/training routines, VO2max improvement and predisposition to some common sports related injuries such as tendonitis. The interest and the scientific progress is reflected both in increasing rate of publication of geneexercise studies as well as in patent applications concerning genetic associations with commercial potential.

Talent identification for future sport performance is of paramount interest for many groups given the challenges of finding and costs of training potential elite athletes. Because genetic factors have been implicated in many performance- related traits (strength, endurance, etc.), a natural inclination is to consider the addition of genetic testing to talent identification programs. While the importance of genetic factors to sport performance is generally not disputed, whether genetic testing can positively inform talent identification is less certain. The present paper addresses the science behind the genetic tests that are now commercially available (some under patent protection) and aimed at predicting future sport performance potential. Also discussed are the challenging ethical issues that emerge from the availability of these tests. The potential negative consequences associated with genetic testing of young athletes will very likely outweigh any positive benefit for sport performance prediction at least for the next several years. The paper ends by exploring the future possibilities for genetic testing as the science of genomics in sport matures over the coming decade(s).

This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

Our genes influence our athletic ability. However, the causal genetic factors and mechanisms, and the extent of their effects, remain largely elusive. Many studies investigate this association between specific genes and athletic performance. Such studies have increased in number over the past few years, as recent developments and patents in DNA sequencing have made large amounts of sequencing data available for such analysis. In this paper, we consider four of the most intensively studied genes in relation to athletic ability: angiotensin I-converting enzyme, alpha-actinin 3, peroxismose proliferator-activator receptor alpha and nitric oxide synthase 3. We investigate the connection between genotype and athletic phenotype in the context of these four genes in various sport fields and across different ethnicities and genders. We do an extensive literature survey on these genes and the polymorphisms (single nucleotide polymorphisms or indels) found to be associated with athletic performance. We also present, for each of these polymorphisms, the allele frequencies in the different ethnicities reported in the pilot phase of the 1000 Genomes Project - arguably the largest human genome-sequencing endeavor to date. We discuss the considerable success, and significant drawbacks, of past research along these lines, and propose interesting directions for future research.

Pattern finding in biomolecular data is at the core of Computational Molecular Biology research. Indeed, it makes a very important contribution in the analysis of these data. It can reveal information about shared biological functions of biological macromolecules, coming from several different organisms, by the identification of patterns that are shared by structures related to these macromolecules. These patterns, which have been conserved during evolution, often play an important structural and/or functional role, and consequently, shed light on the mechanisms and the biological processes in which these macromolecules participate. Pattern finding in biomolecular data is also used in evolutionary studies, in order to analyze relationships that exist between species and establish if two, or several, biological macromolecules are homologous and to reconstruct the phylogenetic tree that links them to their common biological ancestor. On the other hand, with the new sequencing technologies, the number of biological sequences in databases is increasing exponentially. In addition, the lengths of these sequences are large. Hence, the finding of patterns in such databases requires the development of fast, low memory requirement and highperformance techniques and approaches. This issue contains very interesting papers that deal with pattern finding in Computational Molecular Biology.

Gene therapy is a hope for curing many diseases and pathological conditions which are relatively difficult to treat. However lack of proper gene delivery vehicle is the main limiting step in this direction. Though viral vectors still lead as the major vehicle used in gene therapy clinical trials, their immunogenicity and low capacity restrict their wide use. Hence there is a need for developing non-viral vectors which can really be used for clinical applications. Polymers are a versatile group of molecules which can be modified and designed or engineered according to the end needs of the applications. The objective of this review is to summarize the recent advances in the development of polymeric vectors for gene delivery applications reported in patents and scientific journals.

Autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of debilitating and neurodegenerative diseases that affect the cerebellum and its main connections and characterized by a generalized incoordination of gait, speech, and limb movements. In general, the onset of SCAs occurs during adult life and shows great clinical heterogeneity. Currently, the mutations responsible for different types of SCAs have been localized in different regions of the genome, and most of them were already mapped and cloned. Several pieces of evidence suggest that all these diseases share the same molecular mechanism and physiopathological processes. CAG trinucleotide expansion is a common mutational basis of several of these disorders. An expanded polyglutamine tract may become a toxic product when located within the coding region of the gene. The SCA genes, recent patents and the molecular aspects of these disorders are presented in this review. Our knowledge of the molecular mechanisms of SCAs is rapidly expanding, and the development of important studies is bringing hope for effective therapies.