Tag Archives: Rare Disease

TGF-β3 Protein Structure Demonstrates Variant-to-3D Structure Function

A new functionality in QIAGEN® Biomedical Genomics Workbench can be used in conjunction with Ingenuity® Variant Analysis™ to identify causal variants, which disrupt protein/drug binding or have an impact on the protein 3D structure.  The user gains an insight not … Read More

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Your Chance to Help Father-Daughter Trailblazers!

What a great idea: a team of documentary filmmakers is looking to tell the story of Bea Rienhoff, the young girl whose father managed to diagnose her never-seen-before disease. (If you missed our profile of this feat, check it out … Read More

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Rare Disease Specialists Identify Novel Pediatric Syndrome in Three Families

In the world of rare disease, genomics has been transformational. Nobody sees this more clearly than Hywel Williams, manager of a translational genomics center at University College London’s Institute of Child Health that is dedicated to studying the genetic basis … Read More

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