Wednesday, February 28, 2018

Researching Rare Disease

An estimated 300 million people worldwide live with some form of rare disease. In the US, a disease is considered rare if it affects fewer than 200,000 people, while in the European Union, rare disease affects fewer than 1 in 2,000 people. Advances are being made in ongoing research and in initiatives and communities that support patients, and QIAGEN is pleased to once again support Rare Disease Day 2018 — the theme of which is research.

Research conquers scientific frontiers and translates genomic insights into new medicines in the rare disease community. At QIAGEN, we offer a suite of solutions that contribute to these efforts, including Biomedical Genomics Workbench, Biomedical Genomics Server, and Ingenuity Variant Analysis. We are proud that our tools are helping scientists contribute to efforts to unravel these challenging diseases.

Our tools have recently been cited by researchers in their efforts to better understand rare disease. To learn more about rare inherited cardiac disorders—the primary cause of sudden cardiac death for those below the age of 35—Anders Krogh Broendberg and his team cited CLC Genomics Workbench as one of the bioinformatics tools used to call variants in their study. At the University of Paris, Lydie Da Costa used CLC Biomedical Workbench to analyze ribosomal protein genes inherent in Diamond-Blackfan anemia, a rare congenital bone marrow failure syndrome.

QIAGEN is proud to advocate for further research to help those with rare diseases, and we stand with scientists who strive to solve these complex genetic conundrums.

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