On Rare Disease Day, We’re Honoring Scientists and Pooling Data


This Saturday is Rare Disease Day, a time to honor those among us who struggle with rare diseases and to raise awareness for these illnesses, which often get little funding or support. There are more than 6,000 known rare diseases, in aggregate affecting far more people than even some very common diseases.

Supporting people with rare diseases is a cause that’s near and dear to us at QIAGEN Bioinformatics, which is why we’re pleased to be an official partner organization for Rare Disease Day. Helping scientists find the signal in the noise has long been one of our biggest goals, and many of those scientists have used our applications to make real strides in deciphering the biology behind rare disease.

Take Hywel Williams, for instance. He specializes in ultra-rare and unknown childhood diseases, making him one of our rare disease heroes. As manager of a translational genomics center at the University College London’s Institute of Child Health, Williams recently used QIAGEN’s Ingenuity Variant Analysis to identify a novel syndrome in children, explaining several undiagnosed cases in unrelated families.

There’s no shortage of other researchers doing impressive work. Vivien Sheehan, an assistant professor of pediatrics at Texas Children’s Hematology Center and Baylor College of Medicine, used Ingenuity Variant Analysis to better understand hydroxyurea-induced fetal hemoglobin levels in children with sickle cell disease. Bryn Webb, an instructor in pediatrics and genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai, has already made progress in characterizing rare congenital facial paralysis disorders. And at Indiana University School of Medicine, Milan Radovich is using both Ingenuity Pathway Analysis and Ingenuity Variant Analysis to study triple-negative breast cancer.

allele frequency logo-03This mission is so important to us that we’re going beyond the applications we offer to find new ways to support this kind of work. The recently announced Allele Frequency Community, which we helped establish, aims to tackle this precise challenge by giving scientists access to allele frequency data from as many populations and databases as possible. This one of a kind resource has demonstrated a reduction in false positives by 40%, thus providing participating researchers with an invaluable resource for the discovery of novel variants with unsurpassed accuracy.  This data is critical for people trying to interpret rare variants, and we believe that the Allele Frequency Community will provide important new insights into rare disease in the coming years.

This Saturday, we’ll be celebrating all kinds of rare disease heroes, from scientists and clinicians to patients and families dealing with these diseases on the most personal level. We honor all of you!