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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., FRCPCAutoimmune 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
3/17/2015Limited Competition: Continuation of the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) Study (U01) (Summary) RFA-DK-15-504
2/24/2015Administrative Supplements for Common Basic Sociobehavioral Mechanisms and Processes that Facilitate or Impede Self-Management of Chronic Conditions (Admin Supp) (Summary) PA-15-122
2/6/2015Limited Competition for the Continuation of the Diabetes Prevention Program Outcomes Study (DPPOS) Clinical Centers (Collaborative U01) (Summary) RFA-DK-15-503
2/6/2015Limited Competition for the Continuation of the Diabetes Prevention Program Outcomes Study (DPPOS) Biostatistics Research Center (Collaborative U01) (Summary) RFA-DK-15-505
1/12/2015NIH Big Data to Knowledge (BD2K) Enhancing Diversity in Biomedical Data Science (R25) (Summary) RFA-MD-15-005
View More Funding Opportunities

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
Evaluating Predictors and Interventions in Sphincter of Oddi Dysfunction

The EPISOD study is a prospective, double-blind, randomized, sham-controlled, multi-center clinical trial. The EPISOD study enrolls subjects who have received a prior cholecystectomy and are diagnosed with the clinical syndrome of Sphincter of Oddi…

Acute Liver Failure Study Group
The Acute Liver Failure Study Group is collecting biosamples and information on the natural history, causes and outcomes of Acute Liver Failure in the United States. In addition to the database, a clinical trial conducted to test whether the drug…
Action to Control Cardiovascular Disease Risk in Diabetes Follow-up Study
ACCORDION (sponsored by NHLBI) is a prospective, observational follow-up study of at least 8000 participants who were treated and followed in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Trial.  Treatment in ACCORD ended in 2009 and…
Action for Health in Diabetes
Look AHEAD is a 16-center, randomized clinical trial investigating the long-term health effects of an intensive lifestyle intervention designed to produce weight loss. Look AHEAD enrolled 5,145 overweight or obese participants with type 2 diabetes…
Diabetic Complications Consortium
The goal of the NIDDK-sponsored Diabetic Complications Consortium (DiaComp) is to foster communication and collaboration between investigator communities involved in complications research.  Toward this goal, DiaComp: (1) sponsors annual meetings in…

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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.