Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine (original) (raw)
Related papers
Challenges and Opportunities for the Use of Biomarkers of Rare Genetic Diseases
Journal of Investigative Genomics, 2014
Rare genetic diseases are a general classification of some 6000 disorders impacting millions of people. Most rare genetic disorders are life threatening or have a serious impact on the quality of life, often requiring lifelong medical intervention and support. Despite the large number of rare genetic diseases, relatively few drugs have been approved (approximately 400). The challenges facing developers of treatments for rare diseases are multiple. Surrogate biomarkers for rare diseases hold great promise to enable successful drug development, long term management of disease and patient empowerment. Rare disease drug development is often challenged by a lack of scientific knowledge about the disease, small patient populations, expensive trials, regulatory hurdles, and high cost of commercial failure. However, great opportunities exist for the treatment of rare diseases. Large and small biopharmaceutical companies have proven that developing and marketing treatments for rare genetic diseases is viable. Bio analytical tests have been developed for many disorders; new technologies for hand-held, self-administered tests are within reach. Monitoring devices and healthcare networking applications are ideal for enabling successful treatments for people suffering from rare genetic diseases.
Precision Medicine in Rare Diseases
Diseases, 2020
Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the world’s population. Many patients with rare diseases have suffered the consequences of what is called the diagnostic odyssey, that is, extensive and prolonged serial tests and clinical visits, sometimes for many years, all with the hope of identifying the etiology of their disease. For patients with rare diseases, obtaining the genetic diagnosis can mean the end of the diagnostic odyssey, and the beginning of another, the therapeutic odyssey. This scenario is especially challenging for the scientific community, since more than 90% of rare diseases do not currently have an effective treatment. This therapeutic failure in rare diseases means that new approaches are necessary. Our research grou...
International Journal of Molecular Sciences, 2021
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
Drug discovery and development for rare genetic disorders
American journal of medical genetics. Part A, 2017
Approximately 7,000 rare diseases affect millions of individuals in the United States. Although rare diseases taken together have an enormous impact, there is a significant gap between basic research and clinical interventions. Opportunities now exist to accelerate drug development for the treatment of rare diseases. Disease foundations and research centers worldwide focus on better understanding rare disorders. Here, the state-of-the-art drug discovery strategies for small molecules and biological approaches for orphan diseases are reviewed. Rare diseases are usually genetic diseases; hence, employing pharmacogenetics to develop treatments and using whole genome sequencing to identify the etiologies for such diseases are appropriate strategies to exploit. Beginning with high throughput screening of small molecules, the benefits and challenges of target-based and phenotypic screens are discussed. Explanations and examples of drug repurposing are given; drug repurposing as an approac...
Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine
Indian Journal of Clinical Biochemistry
The current advent of molecular technologies together with a multidisciplinary interplay of several fields led to the development of genomics, which concentrates on the detection of pathogenic events at the genome level. The structural and functional genomics approaches have now pinpointed the technical challenge in the exploration of disease-related genes and the recognition of their structural alterations or elucidation of gene function. Various promising technologies and diagnostic applications of structural genomics are currently preparing a large database of disease-genes, genetic alterations etc., by mutation scanning and DNA chip technology. Further the functional genomics also exploring the expression genetics (hybridization-, PCR-and sequence-based technologies), twohybrid technology, next generation sequencing with Bioinformatics and computational biology. Advances in microarray ''chip'' technology as microarrays have allowed the parallel analysis of gene expression patterns of thousands of genes simultaneously. Sequence information collected from the genomes of many individuals is leading to the rapid discovery of single nucleotide polymorphisms or SNPs. Further advances of genetic engineering have also revolutionized immunoassay biotechnology via engineering of antibody-encoding genes and the phage display technology. The Biotechnology plays an important role in the development of diagnostic assays in response to an outbreak or critical disease response need. However, there is also need to pinpoint various obstacles and issues related to the commercialization and widespread dispersal of genetic knowledge derived from the exploitation of the biotechnology industry and the development and marketing of diagnostic services. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry. Thus this field is revolutionizing current era and further it may open new vistas in the field of disease management.