Rare Diseases

It is estimated that 250-450 million people worldwide are affected by rare diseases.

Over 7,000 specific rare diseases have been catalogued to date, and many of these lack effective treatment options. Each rare disease poses its own unique research challenges, and existing knowledge (of disease mechanisms, patient profiles, etc.) is often limited.

Our team provides a range of services that can support the interrogation of rare disease biology, as well as the development of next-generation therapeutics to treat these devastating conditions. In addition to our RapidFire-MS and LC-MS services, which can be leveraged for a wide array of metabolite and biomarker quantification applications, we have experience profiling disease biomarkers from cell lines and patient tissue samples (QuantScout™), clinical plasma and serum samples (PlasmaScout™) and the cell surface (SurfaceScout™).

Our proteome-wide profiling technology (ProteomeScout™) can be applied to virtually any sample type, comprehensively characterizing the protein landscapes of understudied disease systems. Our ICP-MS technology enables quantification of copper as a biomarker for Wilson’s Disease in gene therapy studies, in addition to other rare disease applications. When you partner with Momentum for your rare disease research, you will receive personalized attention from study design to data interpretation, harnessing the expertise of our team to effectively address your research questions.