A generic research paradigm for identification and validation of early molecular diagnostics and new therapeutics in common disorders
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ 85004, USA. Molecular Diagnosis & Therapy
(Impact Factor: 2.89).
02/2007; 11(1):1-14. DOI: 10.1007/BF03256218
Genetically complex disorders continue to confound investigators because of their many underlying factors, both genetic and environmental. In order to tease apart the heritable from the non-heritable contributions to disease, clinicians are relying on researchers in the rapidly expanding fields of high-throughput genomics to identify surrogate clinical endpoints, called biomarkers, that provide a measure of the probability that an individual will succumb to the disease in question. The goals of current biomedical research into complex disorders are to identify and utilize these biomarkers, not only for early detection, but also for personalized treatment with knowledge-guided therapeutics. As the identification of these biomarkers is basically a problem of discovery, we discuss new insights into biomarker detection utilizing the most current genomic technologies available. Additionally, we present here a generic paradigm for the validation of such molecular diagnostics as well as new treatment modalities for complex and increasingly common diseases. Lastly, we delve into the ways genomic biomarkers might be implemented in a clinical setting to allow the subsequent application of targeted therapeutics, which can help the ever expanding groups of individuals experiencing these insidious diseases.
Available from: Francesco M Marincola
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ABSTRACT: The mission of translational research involves difficult tasks to be accomplished for its ultimate goal, i.e., the introduction of novel, effective therapeutic strategies in the clinic to diminish human suffering and cure life-threatening diseases. Translational research (also referred to as translational medicine) facilitates the translation of investment in biomedical research into successful medical treatment. This includes the transfer of diagnostic and therapeutic advances by proving their efficacy in large evidence-based trials. Through the study of humans novel insights about disease are brought back to the laboratory to identify new, observation-based strategies. This "two-way road" ("bench to bedside and bedside to bench") process includes formulating guidelines for drug development and principles for new therapeutic strategies; initiating clinical investigations that provide the biological basis for new therapies, and related clinical trials; defining therapeutic targets and clinical endpoints. It requires a systematic approach beginning with specimen sampling, patient data collection, laboratory investigations, data analysis, preclinical testing, clinical trials, treatment efficacy monitoring, and finally the evaluation of therapeutic result. The marathon well symbolizes the enormous efforts undertaken by clinicians, scientists, regulators, ethicists, patient advocates, drug developers, and others, coordinately attempting to overcome obstacles along this road toward the final "marathon goal in medicine".
Polskie archiwum medycyny wewnȩtrznej 09/2009; 119(9):586-94. · 2.12 Impact Factor
Available from: atsjournals.org
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ABSTRACT: The recent explosion of genomic data and technology points to opportunities to redefine lung diseases at the molecular level; to apply integrated genomic approaches to elucidate mechanisms of lung pathophysiology; and to improve early detection, diagnosis, and treatment of lung diseases. Research is needed to translate genomic discoveries into clinical applications, such as detecting preclinical disease, predicting patient outcomes, guiding treatment choices, and most of all identifying potential therapeutic targets for lung diseases. The Division of Lung Diseases in the National Heart, Lung, and Blood Institute convened a workshop, "Genomic Medicine and Lung Diseases," to discuss the potential for integrated genomics and systems approaches to advance 21st century pulmonary medicine and to evaluate the most promising opportunities for this next phase of genomics research to yield clinical benefit. Workshop sessions included (1) molecular phenotypes, molecular biomarkers, and therapeutics; (2) new technology and opportunity; (3) integrative genomics; (4) molecular anatomy of the lung; (5) novel data and information platforms; and (6) recommendations for exceptional research opportunities in lung genomics research.
American Journal of Respiratory and Critical Care Medicine 05/2012; 186(3):280-5. DOI:10.1164/rccm.201203-0569WS · 13.00 Impact Factor
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