Genetic Metabolic Disease
Basic and clinical studies on the pathophysiology and treatment of inborn errors of metabolism and rare genetic metabolic diseases.
The Genetic Metabolic Disease program supports basic and clinical research that addresses the pathophysiology and treatment of inborn errors of metabolism and rare genetic metabolic diseases, such as lipodystrophy, maturity onset diabetes of the young (MODY), primary hyperoxaluria, systemic amyloidosis, and porphyria.
Lipodystrophy, a condition in which fat tissue is lost or redistributed in the body is associated with insulin resistance and type 2 diabetes. MODY, a monogenic form of diabetes that usually presents during adolescence or early adulthood, sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. Primary hyperoxaluria, overproduction of oxalate, is a rare genetic condition associated with kidney stones that can lead to kidney failure and injury to other organs. The systemic amyloidoses are a group of uncommon disorders characterized by progressive multi-system organ failure due accumulation of protein aggregates in tissues and organs. Porphyria is a term that refers to a group of disorders, the porphyrias, which affect the nervous system or skin, or both. Most porphyrias are inherited disorders due to the inborn errors of heme biosynthesis.
The program fosters interdisciplinary research in etiology, pathogenesis, prevention, diagnosis, pathophysiology, and treatment of these and other monogenic metabolic diseases. Special emphasis is on characterization of the genes, gene defects and regulatory alterations that are the underlying causes of these diseases. In the area of treatment, the development of animal models, dietary therapy, small molecule therapy, gene therapy and enzyme replacement therapies would be included. This program also supports studies aimed at development and implementation of newborn or population screening methods.
NIDDK Program Staff
- Averell H. Sherker, M.D., FRCPC Autoimmune Liver Disease; Acute Liver Failure; Complications of Chronic Liver Disease; Gallbladder and Biliary Diseases; Liver Bioengineering and Biotechnology; Liver Cancer; Liver Transplantation
- Carol Renfrew Haft, Ph.D. Adipocyte development and biology in various fat depots; protein trafficking, secretion, processing and ER stress in metabolic disease
- Cindy N. Roy, Ph.D. Iron; Heme Biosynthesis; Terminal Erythropoiesis; Bone Marrow Failure/Myelodysplastic Syndrome; Systemic amyloidosis; Porphyrias
- Edward Doo, M.D. Fatty Liver Disease; Genetic Liver Disease; HIV and Liver; Pediatric Liver Disease; Viral Hepatitis and Infectious Diseases
- Sheryl Sato, Ph.D. Basic mechanisms underlying the organogenesis and regeneration of pancreatic islets during health and disease
- Thomas Eggerman, M.D., Ph.D. Cystic fibrosis research and translation centers, inborn errors of metabolism, clinical trials, and islet transplantation
Recent Funding OpportunitiesView More Recent Funding Opportunities
Regenerative Medicine Innovation Project (RMIP) Investigator-Initiated Clinical Trials (UG3/UH3 Clinical Trial Required)
SBIR/STTR Commercialization Readiness Pilot (CRP) Program Technical Assistance (SB1, R44) Clinical Trial Not Allowed
SBIR/STTR Commercialization Readiness Pilot (CRP) Program Technical Assistance and Late Stage Development (SB1, R44) Clinical Trial Not Allowed
Catalyst Award In Diabetes, Endocrinology and Metabolic Diseases (DP1 Clinical Trial Not Allowed)
NIDDK Central Repositories Non-renewable Sample Access (X01 Clinical Trial Not Allowed)
Including the Porphyria Consortium and the Rare Kidney Stone Consortium.
View related clinical trials from ClinicalTrials.gov.
Study sections conduct initial peer review of applications in a designated scientific area. Visit the NIH’s Center for Scientific Review website to search for study sections.
NIDDK makes publicly supported resources, data sets, and studies available to researchers to accelerate the rate and lower the cost of new discoveries.
- Ancillary Studies to Major Ongoing Clinical Studies to extend our knowledge of the diseases being studied by the parent study investigators under a defined protocol or to study diseases and conditions not within the original scope of the parent study but within the mission of the NIDDK.
- NIDDK Central Repository for access to clinical resources including data and biospecimens from NIDDK-funded studies.
- NIDDK Information Network (dkNET) for simultaneous search of digital resources, including multiple datasets and biomedical resources relevant to the mission of the NIDDK.
Additional Research Programs
NIDDK supports the training and career development of medical and graduate students, postdoctoral fellows, and physician scientists through institutional and individual grants.Learn about NIDDK Research Training Programs
The NIDDK offers and participates in a variety of opportunities for trainees and researchers from communities underrepresented in the biomedical research enterprise. These opportunities include travel and scholarship awards, research supplements, small clinical grants, high school and undergraduate programs, and a network of minority health research investigators.Learn about NIDDK Diversity Programs
NIDDK participates in the Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) programs. These programs support innovative research conducted by small businesses that has the potential for commercialization.Learn about NIDDK Small Business Programs
Human Subjects Research
NIDDK provides funding for pivotal clinical research, from preliminary clinical feasibility to large multi-center studies.Learn about Human Subjects Research
NIDDK provides funding opportunities and resources to encourage translation of basic discoveries into novel therapeutics.Learn about NIDDK Translational Research Opportunities
Meetings & Workshops
- | Bethesda, MD
- | Kansas City, MO