On September 24, 2018, the National Institutes of Health (NIH) awarded Mayo Clinic funding to serve as the new Metabolomics Research Core for the Undiagnosed Diseases Network. In this article, we explore the role of metabolomics in medicine at Mayo Clinic, both in research and in patient care. And we celebrate the role that Mayo Clinic plays as a leader in the science of metabolomics on a national and an international scale.
Metabolomics—the study of tiny molecules in the human body left behind by diseases and other processes—was an emerging scientific field in the 1990s when Mayo Clinic began investing in this technology and opened its first dedicated metabolomics lab. Today, Mayo Clinic is home to a Metabolomics Core Laboratory that serves the needs of researchers and clinicians at Mayo and around the world.
Metabolomics is primarily used in medical research at Mayo Clinic to help scientists better understand and detect the causes of disease, identify new disorders, and find treatments. However, through collaboration with other labs and clinical areas at Mayo, the metabolomics lab is also finding ways to contribute directly to patient care.
The Mayo Clinic Clinical Biochemical Genetics Laboratory and the Department of Clinical Genomics consult with scientists in the metabolomics lab to help find solutions for patients with rare diseases. By working together these disciplines can paint a more complete picture of a patient’s health, which can lead to more precise diagnoses and better treatments. “It’s a beautiful partnership between research and the clinic,” says Ian Lanza, Ph.D., director of the Metabolomics Core Laboratory. “We will do more good for patients and learn more through collaboration than we could ever do alone.”
Resources for medical detectives everywhere
Demand for metabolomics analysis is growing along with the flourishing field of individualized medicine. However, metabolomics is still a niche specialty and many scientists and clinicians outside Mayo Clinic look to Mayo for support and leadership. “Not everyone has the specialized equipment or the expertise to do what we do,” says Dr. Lanza.
One way Mayo meets those needs is through commercial clinical laboratory services, such as those offered through Mayo Medical Laboratories. Mayo Clinic is able to offer specialized services that draw on the combined knowledge of the metabolomics lab, the biochemical genetics lab, and the Department of Clinical Genetics to help clinicians and researchers around the world find solutions for patients with rare diseases.
On a larger scale, Mayo Clinic contributes to the field of metabolomics by serving as a research core for large metabolomics-related studies funded by the National Institutes of Health (NIH). “Mayo has shown real leadership in this field for decades and I think the NIH recognizes that,” says Devin Oglesbee, Ph.D., co-director of the Mayo Clinic Biochemical Genetics Laboratory. In 2013, the NIH awarded Mayo funding to serve as one of six Regional Comprehensive Metabolomics Resource Cores. In this role, Mayo provides instrumentation, support and training for investigators throughout the United States.
A new research core for the Undiagnosed Diseases Network
Last month, the NIH further recognized Mayo Clinic’s expertise and leadership in metabolomics by awarding Mayo funding to serve as the new Metabolomics Research Core for the Undiagnosed Diseases Network. The Undiagnosed Diseases Network is an NIH-funded study that brings together clinicians and scientists from many institutions and many countries to find solutions to medical mysteries. In this new role, Mayo’s metabolomics lab, clinical biochemical genetics lab, and the Department of Clinical Genomics will all work together to provide tools and support for the Undiagnosed Disease Network’s 12 Clinical Sites.
“We’re very pleased to begin this exciting new phase with the Network,” says Dr. Oglesbee. “As an institution, we’ve made progress in rare disease discovery for a long time, and in this new role, we look forward to contributing even more to this important work.”
Dr. Lanza agrees, adding that Mayo’s contributions to the work of the Network, and to the field of metabolomics, go well beyond analytical chemistry. “We will be able to provide meaningful clinical insights from the metabolite signatures measured in patients. That’s a significant step forward because metabolomics has been slow to reach the clinic. It’s the ability to make those insights that truly advances the science and enables us to help patients with unmet needs.”