Living with a rare disease is often lonely and isolating for patients and caregivers alike. Through our work with researchers and medical teams, we’re acutely aware of the difficulties experienced by the rare disease community, which range from a lack of resources and research to the impact of the diseases themselves. With Rare Disease Day 2016 we want to salute those who work and live with disease and to shine a spotlight on this area of medical research, which is all too often overlooked.
Most rare diseases have a genetic cause, and we’re proud that our tools are helping scientists contribute to efforts to unravel these challenging diseases. In fact, we’ve bundled a few of our most powerful tools into the QIAGEN Bioinformatics Clinical Research Solution for NGS DNA applications, created for researchers to discover more insights and get publication-ready results faster — and in honor of Rare Disease Day, we’ve reduced the price by $1,000. The solution includes:
- Biomedical Genomics Workbench and Biomedical Genomics Server Solution for variant identification and filtering, QC reporting, and result validation and visualization
- Ingenuity Variant Analysis for variant interpretation, filtering, and prioritization
To learn more and get the discount, please email us.
There are so many remarkable new stories about finding answers to rare disease, and in the past year it’s been an honor for us to share some of them. In case you missed them, here’s a quick glimpse of just a few of the amazing discoveries made by our customers in the rare disease field:
- Rajini Haraksingh of Stanford and the Rare Genomics Institute used CNVs to make sense of a rare sensorineural hearing loss disorder
- Alistair Pagnamenta at the University of Oxford performed linkage analysis and exome sequencing to provide clues to a hereditary syndrome marked by polymicrogyria
- Rockefeller University’s Yuval Itan built new computational tools to help scientists sort and interpret genetic mutations with greater accuracy and reliability
- Hywel Williams at University College London expanded on a rare pediatric disease pipeline and unraveled two different hereditary disorders
We’re proud to support these scientists and so many others around the world who are making a real difference in the lives of people coping with rare disease.