On February 28, we honor those fighting rare diseases
Patients with a rare disease face many challenges, from difficult diagnosis and finding an advocacy community to getting new therapies. Any given rare disease may affect thousands or even just a few people in the whole world. But taken together, rare diseases represent a major medical burden, afflicting hundreds of millions of people globally.
That’s why we join with organizations around the world to recognize Rare Disease Day. Held each year on the last day of February, the day honors patients, researchers, doctors, caretakers, and all other stakeholders in the battle against these diseases. This year, Luminex is an official supporter of the event, which features hundreds of patient groups in more than 80 countries raising awareness for this important cause.
Making Progress Through Research
For 2017, the Rare Disease Day theme is research. This is a nice opportunity to cheer on all of the amazing science focused on improving the quality of life for affected individuals. Here at Luminex, we are lucky enough to support a huge community of researchers who are advancing the understanding of diseases. Our users have published more than 32,000 papers citing our multiplexing technologies — xMAP® and xTAG®, which allow running up to 500 analytes per sample for genomic or protein assays — on everything from common to rare diseases.
For some great examples of how our customers are involved in rare disease research, check out some of these recent papers:
- Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings
- Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome
- High unacylated ghrelin levels support the concept of anorexia in infants with Prader-Willi syndrome
- Preclinical Justification of pbi-shRNA EWS/FLI1 Lipoplex (LPX) Treatment for Ewing’s Sarcoma
- A possible role for IL-17 in Clarkson’s disease
- A novel prognostic model for osteosarcoma using circulating CXCL10 and FLT3LG
Thanks to the tremendous creativity of our customers and partners, there is also a huge selection of immunoassay kits that can be used with our xMAP Technology (including the MAGPIX®, Luminex® 100/200™, and FLEXMAP 3D® instruments). This Kit Finder is a nice resource for searching across all available options, while the xMAP Cookbook offers helpful protocols for developing multiplex assays for rare disease studies.
Clinical Research Possibilities
Of course, we also view rare diseases through the lens of diagnostic testing. Genome-based testing has been tremendously useful for patients with rare diseases, who often endure years-long diagnostic odysseys before getting answers about the underlying cause of their symptoms. But these tests are still not accessible to everyone who needs them.
Just as there aren’t enough therapies for rare diseases because pharmaceutical companies often can’t justify investing the resources on behalf of so few patients, commercial test developers usually choose to focus their R&D budgets on higher-demand indications. Laboratory-developed tests (LDTs) have come to serve a real need in this area, allowing clinical labs to design assays for rare diseases that have no commercially available assay. These LDTs may be run in low volumes, but they are incredibly important, providing answers to patients in dire need.
Learn about the Luminex tools available for user defined testing using ARIES® Systems.
Thank You
Today, we acknowledge and appreciate researchers and the clinical lab community for working so hard to characterize and diagnose rare diseases that would otherwise go undetected. To the lab members and everyone who faces the challenge of these diseases, we extend our sincere gratitude and support.
We raise up and join hands in support of Rare Disease Day!
