RARE DISEASES AND GENETIC DISCRIMINATION
نویسندگان
چکیده
منابع مشابه
High-throughput sequencing and rare genetic diseases.
High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.
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Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world. From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease. Main characteristics of rare d...
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Citation: Zhang Q (2015) Associating rare genetic variants with human diseases. Genome researches have revealed that a large portion (over 50%) of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency (usually defined as less than 1%) in populations. In recent years, advances of DNA genotyping and sequencing technologies have been facilitating the dis...
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Managed care organizations generally pay for expensive drugs that treat rare genetic diseases because few patients have these conditions, the conditions are often life threatening, and the benefit design mandates coverage. In most cases, the cost-control measures and management restrictions applied to many other specialty pharmaceuticals do not make sense for the orphan drugs used to treat extr...
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Technology advances have promoted gene-based sequencing studies with the aim of identifying rare mutations responsible for complex diseases. A complication in these types of association studies is that the vast majority of non-synonymous mutations are believed to be neutral to phenotypes. It is thus critical to distinguish potential causative variants from neutral variation before performing as...
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ژورنال
عنوان ژورنال: Journal of IMAB - Annual Proceeding (Scientific Papers)
سال: 2011
ISSN: 1312-773X
DOI: 10.5272/jimab.2011171.116