Rare Genomics Institute: Solving rare disease mysteries


QIAGEN Digital Insights

Rare Genomics Institute: Solving rare disease mysteries

Nearly 250 million people around the world are affected by rare diseases, which are typically genetic in nature. Their rarity means that these diseases are not well understood, and funding to research and cure them is often limited. Genome sequencing has contributed to a far better characterization of rare disease by allowing scientists to home in on causal variants. For researchers who work on rare diseases, time is often the enemy. Solutions that provide fast, easy, and profound insights can significantly improve patient care. Clinical genome and exome sequencing can be integrated more broadly into the routine practice of medicine for the betterment of public health.

We are therefore thrilled to share details here about our collaboration with the Rare Genomics Institute (RG). We’ve provided RG with access to our Hereditary Disease Solution for interpreting whole exome and genome data, so that their scientists can use the tool to better understand rare diseases by identifying potential causal mutations missed by other platforms and methods. This collaboration expands their access to our genomic data interpretation tool. According to RG analyst William Chiu, “Ingenuity has a very intuitive user interface, one can easily zoom in to a short-list of potential mutations of interests in a few clicks.”

Ingenuity Variant Analysis features robust algorithms and the deeply curated QIAGEN Knowledge Base, enabling quick identification of known or novel causal variants in disease genes and discovery of novel variants or genes by leveraging pathway and network analysis.