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Genetic Metabolic Disease

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 co​​ndition 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 tiss​ues 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 Staff

Edward Doo, M.D.Fatty Liver Disease; Genetic Liver Disease; HIV and Liver; Cell Injury, Repair, Fibrosis, and Inflammation; Pediatric Liver Disease; Viral Hepatitis and Infectious DiseasesCarol Renfrew Haft, Ph.D. Adipocyte development and biology in various fat depots; protein trafficking, secretion, processing and ER stress in metabolic diseaseEllen Leschek, M.D.Type 1 diabetes clinical research; inborn errors of metabolism
Rebekah Rasooly, Ph.D.Genetics and Genomics; Basic PKDSheryl Sato, Ph.D.Basic mechanisms underlying the organogenesis and regeneration of pancreatic islets during health and diseaseAverell H. Sherker, M.D., FRCP(C)Autoimmune Liver Disease; Acute Liver Failure; Bile, Bilirubin and Cholestasis; Complications of Chronic Liver Disease; Gallbladder and Biliary Diseases; Liver Cancer; Liver Transplantation


 Related Funding Opportunities

Posted DateTitleFull Announcement
8/18/2014Prevention of Lower Urinary Tract Symptoms in Women: Bladder Health Clinical Centers (PLUS-CCs) (U01) (Summary) RFA-DK-14-004
8/18/2014Prevention of Lower Urinary Tract Symptoms in Women: Bladder Health Scientific and Data Coordinating Center (PLUS -SDCC) (U01) (Summary) RFA-DK-14-018
8/15/2014Type 1 Diabetes TrialNet Clinical Centers (U01) (Summary) RFA-DK-14-016
7/30/2014NIDDK Central Repositories Non-renewable Sample Access (X01) (Summary) PAR-14-301
7/29/2014NIDDK Clinician Scientist Mentoring Award to Promote Workforce Diversity (K05) (Summary) RFA-DK-14-005
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​The resources listed below include reagents, data, protocols, etc.  If you would like to utilize any of these resources, contact the person associated with the resource.

 Research Resources

Resource NameDescription
Type 1 Diabetes-Rapid Access to Intervention Development
Type 1 Diabetes-Rapid Access to Intervention Development (T1D-RAID): T1D-RAID is not accepting new applications at this time, but currently supports ongoing projects. The goal of T1D-RAID is to facilitate translation from the lab to the clinic of…
Hyperglycemia and Pregnancy Outcomes Follow-Up Study Consortium

The goal of this follow-up study of mothers who participated in the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study, is to determine the levels of blood sugar during pregnancy that are linked to increased body fat in the child, and to a…

Diabetes Prevention Program
The DPP showed that lifestyle change or metformin delay the development of type 2 diabetes. The DPPOS is a long-term follow-up study of the DPP participants.
Diabetes Prevention Program Outcomes Study
The Diabetes Prevention Program Outcomes Study is studying the long term effect of diet and exercise and the diabetes medication, metformin, on the delay of type 2 diabetes in participants of the Diabetes Prevention Program (DPP).
NIDDK Information Network

The NIDDK Information Network (dkNET), serves the needs of basic and clinical investigators by providing seamless access to large pools of data relevant to the mission of NIDDK. The goal of dkNET is to develop a community-based network for…


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 NIDDK Active Trials in Genetic Metabolic Diseases

​​View related clinical trials from ClinicalTrials.gov.​​


 Related Study Sections

Study sections conduct initial peer review of applications in a designated scientific area. View related study sections ​ from the NIH's Center for Scientific Review.