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                    Genetic Metabolic Disease

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                Pre-Clinical Development
                Clinical DevelopmentGenetic 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
        Edward Doo, M.D.
                    Fatty Liver Disease; Genetic Liver Disease; HIV and Liver; Pediatric Liver Disease; Viral Hepatitis and Infectious Diseases
                Thomas Eggerman, M.D., Ph.D.
                    Cystic fibrosis research and translation centers, Cystic Fibrosis basic research and clinical trials, rare metabolic diseases basic and clinical trials, clinical islet transplantation registry; advanced artificial pancreas clinical trials, post COVID-19 new onset diabetes
                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; Globin Regulation; Terminal Erythropoiesis; Systemic amyloidosis; Porphyrias
                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
Recent Funding Opportunities
                    View More Recent Funding Opportunities
        Posted:
                                4/10/2024
                            PA-24-184
                    Mentored Patient-Oriented Research Career Development Award (Parent K23  Independent Clinical Trial Required)
                    
                    Summary
                Posted:
                                4/9/2024
                            PA-24-185
                    Mentored Patient-Oriented Research Career Development Award (Parent K23  Independent Clinical Trial Not Allowed)
                    
                    Summary
                Posted:
                                4/3/2024
                            RFA-DK-25-009
                    Kidney Technology Development Research Education Program (R25 - Independent Clinical Trial Not Allowed)
                    
                    Summary
                Posted:
                                4/2/2024
                            PAR-24-206
                    Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN) (U54 Clinical Trial Optional)
                    
                    Summary
                Posted:
                                4/1/2024
                            RFA-DK-24-002
                    Adaptation of Diabetes Control Technologies for Older Adults with T1D  (R01 Clinical Trial Optional)
                    
                    SummaryView More Recent Funding Opportunities
Related Links
Innovative Science Accelerator (ISAC) Program
 Kidney Precision Medicine Project (KPMP)
    Program Announcement for Research on System Amyloidosis
    Program Announcement for Research on Calcium Oxalate Stone Diseases
    Urinary Stone Disease Research Network (USDRN)
    NIH Rare Disease Research Centers
    Including the Porphyria Consortium and the Rare Kidney Stone Consortium.
    NIDDK Active Trials in Genetic Metabolic Diseases
    View related clinical trials from ClinicalTrials.gov.
    NIH Study Sections
    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.Research Resources

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
ResearchTraining
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
Diversity
Diversity 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
Small Business
Small Business 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 SubjectsResearch
Human Subjects Research
NIDDK provides funding for pivotal clinical research, from preliminary clinical feasibility to large multi-center studies.
Learn about Human Subjects Research
TranslationalResearch
NIDDK provides funding opportunities and resources to encourage translation of basic discoveries
into novel therapeutics.
Learn about NIDDK Translational Research Opportunities

Meetings & Workshops
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                            Gut Microbiota and Kidney Disease
                                May 28
-                                                29, 2024
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                            NIH Regional Seminars on Program Funding and Grants Administration
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        Last Reviewed October 2023 Contact Us
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