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Inherited Disease Research

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Inherited diseases, also known as genetic disorders, are almost exclusively caused by genetic changes, such as single nucleotide polymorphisms (SNPs), insertions/deletions (InDels), and copy number variations (CNVs). CD Genomics provides high-quality and affordable next-generation sequencing (NGS), genotyping, and supporting bioinformatics analysis to identify mutations that contribute to human inherited diseases on a genome-wide scale.

Benefits of Genomics in the Inherited Disease Research

NGS and genotyping are two powerful techniques to profile the comprehensive genomic variations in patients with inherited disease, which have revolutionized the diagnosis, prognosis, and treatment of inherited diseases. A rapid pace of evolution in genomic methodologies and a decreased cost have made it possible to acquire more accurate results in less time. This exponential increase in the volume of data has greatly stimulated the development of bioinformatics tools. They jointly advance the research on mechanisms by which genetic variations affect the structure and function of gene products leading to inherited disease.

Genomics Solutions in the Inherited Disease Research

Since inherited disease are caused by genetic factor, it is possible to use genomic methodologies to capture known causative genes in undiagnosed cases, identify novel disease genes in disease cohorts, and probably lead to the design of targeted therapies.

  • Disease diagnosis and genetic stratification – Targeted sequencing (such as multiple targeted disease-specific NGS panel) and genotyping allow for molecular diagnosis of genetic disorders in undiagnosed cases. It is also possible to perform genetic stratification in disease research or clinical trials.

  • Translational medicine – The disease genes detected by genomic approaches have fueled discoveries of disease and drug targets, which makes it possible to develop new treatment strategies. For example, gene therapy vectors can deliver specific genes to allow production of desired gene products in specific tissues.

 

Genomics Methods in the Inherited Disease Research

Whole genome sequencing

Whole genome sequencing

Whole genome sequencing has the potential for simultaneous, comprehensive diagnostic testing of likely monogenic illnesses and identification of novel disease genes in patient with inherited disease.

Whole exome sequencing

Whole exome sequencing

Whole exome sequencing has emerged as a powerful diagnostic tool in the studies of genetic disorders and has proven to be effective in identifying disease-related genes that are refractory to linkage analysis.

Targeted sequencing

Targeted sequencing

Targeted sequencing is a rapid, accurate, and cost-effective approach to detect known and novel genetic and structural variants in specific sets of genes or genomic regions. Targeted sequencing makes clinical diagnosis more quick and accurate.

Gene expression research

Gene expression research

Gene expression research, including a series of techniques, such as RNA-seq, gene expression profiling microarray, and transcriptome sequencing, has resulted in significant advances in the understanding of the molecular mechanisms of complex disorders.

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