Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases
نویسندگان
چکیده
منابع مشابه
Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery
BACKGROUND Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights:...
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The 1983 US Orphan Drug Act resulted in a significant and sustained increase in treatments for rare diseases. The thousands of rare genetic diseases affect over 10 million Americans. A rare disease is defined as a disorder with a prevalence of less than 200,000 in the United States [1]. Thousands of drugs are being developed for rare diseases; however, the majority of treatments are for rare on...
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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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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.
متن کاملRare Diseases and Genetic Discrimina- Tion
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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ژورنال
عنوان ژورنال: Molecular Diagnosis & Therapy
سال: 2019
ISSN: 1177-1062,1179-2000
DOI: 10.1007/s40291-019-00392-3