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Rare Disease Analysis

Identifying Rare Diseases with Genome Analysis

There are approximately 7000 rare diseases that collectively affect hundreds of millions of individuals worldwide [1]. It is estimated that 31 million Americans and 30 million Europeans suffer from a rare disease[2], [3]. Approximately 80% of rare diseases have a genetic component [4] and the ability to identify these causal variants has progressed rapidly due to the increase in throughput and lower cost of whole genome and exome sequencing technologies. However, a crucial component for identifying possible causative variants in rare diseases is a comprehensive computational platform that enables biological analysis and interpretation.

Ingenuity Variant Analysis combines analytical tools and integrated content so you can explore different biological hypotheses and identify the most promising variants associated with the rare disease in question. Within minutes, Variant Analysis filters out common variants, identifies variants that are consistent with the genetics in disease, and identifies variants that have a relevant causal network— variants that are expected to exert pressure on genes or pathways known to be associated with the rare disease. The detection and investigation of rare variants will help researchers, physicians, and drug companies further understand the disease etiology and may provide new insights into medical treatments and therapies.

[1] http://rarediseases.info.nih.gov/Resources.aspx?PageID=1, [2] http://www.rarediseases.org/rare-disease-information, [3] http://www.eurordis.org/about-rare-diseases, [4] Yaneva-Deliverska M. Rare diseases and genetic discrimination. J. IMAB. 17(1), 116-119 (2001).