During the annual National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) symposium at the Scientific Sessions, four presenters will discuss ongoing NIDDK initiatives related to diabetes research. The two-hour session, NIDDK Symposium—Spanning from Genes to Improving Clinical Care across Translational Valleys, will begin at 8:00 a.m. CT Sunday, June 14.
Karen L. Mohlke, PhD, Professor of Genetics at the University of North Carolina at Chapel Hill, will open the session with a presentation on the Accelerating Medicines Partnership (AMP), a community effort funded by NIDDK and pharmaceutical companies to bring together large data sets and make them publicly available in a format that is easily accessible for scientists and clinicians. The Type 2 Diabetes Knowledge Portal is part of the AMP Knowledge Portal Network.
Anna L. Gloyn, DPhil, Professor of Pediatrics (Endocrinology and Diabetes) at Stanford University, will share unpublished data from the largest study to date on human islets, and from the first genome-wide CRISPR (clustered regularly interspaced short palindromic repeats) loss-of-function screen in a human pancreatic beta-cell model. The data she will present is either in the Type 2 Diabetes Knowledge Portal or will be once it is published. She will explain how researchers can capitalize on the 400-plus regions of the human genome that are known to influence whether a person develops diabetes.
“We know that human genetics is a really powerful tool for uncovering causal mechanisms for diabetes pathogenesis,” Dr. Gloyn said. “If we bring the data together, then we can begin to unlock the biology which will enable clinical translation.”
Evren U. Azeloglu, PhD, Assistant Professor of Medicine in the Division of Nephrology at the Icahn School of Medicine at Mount Sinai, will discuss the Kidney Precision Medicine Project, a new NIDDK consortium designed to bring together multiple forms of complementary molecular data to improve the diagnostic and prognostic outlook of kidney disease, as well as the overall understanding of kidney disease using integrative biology approaches.
“Our goal is essentially to set up a roadmap to improve our toolset for diagnosis and treatment of diabetic kidney disease,” Dr. Azeloglu said. “Everyone knows what a complex pathology we’re dealing with. I’m going to try and convince people that we can actually match the complexity of the disease by coming up with an equally sophisticated diagnostic testing regime.”
The symposium’s final presenter, Jenna M. Norton, MPH, Kidney and Urologic Science Translation Program Manager at the NIDDK, is part of a team working to develop an electronic care plan to facilitate patient data sharing. The health care infrastructure currently has limited capacity to share standardized, machine-readable data across settings, she said. This can be particularly problematic for patients with multiple chronic conditions.
“People with multiple chronic conditions see lots of different care providers, so they have bits of data in all these different places and it puts a huge burden on the individual to try to piece together all those bits of information across different settings,” Norton said. “It also puts a huge burden on health care providers to try to track down that data, and it can lead to safety challenges such as potential medication interactions.”
The NIDDK’s work on the electronic care plan initially focused on patients with chronic kidney disease and is being expanded to include type 2 diabetes, a subset of cardiovascular diseases, and chronic pain. An application is being built using SMART on FHIR technology (Substitutable Medical Applications, Reusable Technologies on Fast Healthcare Interoperability Resources) to integrate with and pull data from the patient’s electronic health record and share it with various members of the person’s health care team.
“Having this data aggregated not only improves care coordination and enables patients to engage in their care, it also provides an opportunity for researchers to access comprehensive, real-world data from the electronic health record to improve our understanding of diseases like diabetes, especially in the context of multiple chronic conditions,” Norton said.