The National Institute of Diabetes & Digestive & Kidney Diseases

Genetics and Genomics Databases, Registries and Information

The mission of the BCBC is to facilitate interdisciplinary approaches that will advance our understanding of pancreatic islet cell development, regenerative capacity and function. The long-term goal is to develop a cell-based therapy, or treatments leading to controlled beta-cell renewal, in order to restore normal insulin production to diabetic patients.

For more information, contact Dr. Olivier Blondel, DEM, Director, Endocrine Systems Biology Program or Dr. Sheryl Sato , DEM, Director, Neurobiology of Obesity and Developmental Biology Programs.

The goal of the Bioinformatics Integration Support Contract (BISC) is to advance the discovery and testing of new therapies for immune-mediated diseases and to further the understanding of the basis of innate and adaptive immunity by providing advanced computer support for scientific data handling and disseminating best practices in scientific data analysis.

For more information, contact Dr. Lisa Spain, DEM, Director, Immunobiology of Type 1 Diabetes Program and Autoimmune Endocrine Diseases Program.

On July 1, 2003, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) established Central NIDDK Repositories for biosamples and data collected in clinical studies. The purpose of the Central Repositories is to expand the usefulness of these studies by providing access to the biosamples and data to a wider research community beyond the end of the study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) consists of investigators from seven sites in the U.S. and Canada, who have recruited a large sample of inflammatory bowel disease patients, their relatives, and control subjects. All of the individuals in this sample have been evaluated according to a standardized protocol for clinical traits related to IBD, and have donated blood samples as a source of DNA. The IBDGC investigators are conducting genetic linkage and association studies to identify genes influencing predisposition to IBD. Phenotype, genotype and pedigree data and DNA samples will be available through the NIDDK Repositories in 2008.

For more information, contact Dr. Robert Karp, DDN, Director, Genetics and Genomics Programs in Digestive Diseases and Obesity Programs.

The dbMHC database provides an open, publicly accessible platform for DNA and clinical data related to the human Major Histocompatibility Complex (MHC).

For more information, contact Dr. Beena Akolkar, DEM, Director, Immunopathogenesis and Genetics of Type 1 Diabetes Program.

The Centers are housed at outstanding academic institutions, staffed by experts in state-of-the-art technology. Researchers can ship mice to one of the four Centers and obtain on a fee-for-service basis a range of complex exams used to characterize mouse metabolism, blood composition including hormones, energy balance, eating and exercise, organ function and morphology, physiology and histology. Many tests are done in living animals and are designed to elucidate subtle to complex traits that would define models of metabolic disease.

For more information, contact Dr. Maren Laughlin, DEM, Senior Advisor for Integrative Metabolism.

The National Gene Vector Laboratories (NGVL) are composed of an interactive group of academic production and pharm/tox laboratories whose primary goal is to provide eligible investigators with clinical grade vectors for phase I/II gene therapy clinical trials and to provide support for relevant pharmacology/toxicology studies leading up to clinical gene transfer protocols. If the application is approved, clinical grade material will be produced at no cost to the investigator.

For more information, contact Dr. Catherine McKeon, DEM, Senior Advisor for Genetic Research in Diabetes, Endocrinology and Metabolic Diseases.

The Nuclear Receptor Resource (NRR) Project is a collection of individual databases on members of the steroid and thyroid hormone receptor superfamily. Although the databases are located on different servers and are managed individually, they each form a node of the NRR. The NRR itself integrates the separate databases and allows an interactive forum for the dissemination of information about the superfamily.

For more information, contact Dr. Ronald Margolis, DEM, Senior Advisor, Molecular Endocrinology.

Commensurate with this directive, NURSA's goals can be distilled into two broad aims: (i) to execute research strategies designed to rapidly and efficiently elucidate those facets of orphan nuclear receptor biology we deem most critical to its understanding; and (ii) to facilitate the generation of hypotheses, design of experiments and communication of results by scientists active in this field. We anticipate that this initiative will provide a valuable service to the nuclear receptor community by developing a web-accessible bioinformatics resource, in which current and emerging data will be organized into more accessible and "user-mineable" forms.

For more information, contact Dr. Ronald Margolis, DEM, Senior Advisor, Molecular Endocrinology.

Genetics and Genomics Multicenter Clinical Research

The FIND consortium is carrying out studies to elucidate the genetic susceptibility to kidney disease in patients, especially those with diabetes mellitus, as well as genetic susceptibility to retinopathy in diabetic patients. Because families of patients with diabetic nephropathy have an increased prevalence of renal disease and certain populations appear to be more susceptible, delineating the genetic loci associated with the development and progression of diabetic nephropathy could lead to improved outcomes. To accomplish this, the NIDDK established the Family Investigation of Nephropathy of Diabetes (FIND) Consortium in 1999. The overall goal of FIND is to identify genetic pathways that may be critical for the development of nephropathy and lead to candidates amenable to therapeutic strategies to prevent the onset or progression of nephropathy. Such data might aid identification of people at risk for the development of progressive renal disease.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) consists of investigators from seven sites in the U.S. and Canada, who have recruited a large sample of inflammatory bowel disease patients, their relatives, and control subjects. All of the individuals in this sample have been evaluated according to a standardized protocol for clinical traits related to IBD, and have donated blood samples as a source of DNA. The IBDGC investigators are conducting genetic linkage and association studies to identify genes influencing predisposition to IBD. Phenotype, genotype and pedigree data and DNA samples will be available through the NIDDK Repositories in 2008.

For more information, contact Dr. Robert Karp, DDN, Director, Genetics and Genomics Programs in Digestive Diseases and Obesity Programs.

The MaGIC study will investigate several hundred families with two or more blood relatives with interstitial cystitis in order to understand the molecular genetic basis of this condition.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The overarching purpose of this proposal (Grant 5U01DK066134-03) is to address a set of critical questions about the etiology of interstitial cystitis (IC) using multivariate data from a large population-based classical twin study. Despite ongoing research, IC remains a controversial entity for two critical reasons. First, the validity of the case definition remains uncertain. There are few data that address a historically important validator--the degree to which IC results from genetic and/or environmental factors. Second, IC is often comorbid with one or more additional physical disorders and yet the causes of comorbidity are uncertain. Taken together, these two sets of unanswered questions contribute significantly to the controversies that continue to surround IC. Moreover, the strong female predominance of IC has been amply documented but is not well understood. To address these fundamental issues, it is proposed to conduct a twin study of IC in the population-based Swedish Twin Registry (STR). This study is part of the Interstitial Cystitis Genetics Consortium. The other part is the Maryland Genetics of Interstitial Cystitis (MaGIC)    study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

Genetics and Genomics Basic Research Networks

The AMDCC is an interdisciplinary consortium designed to develop animal models that closely mimic the human complications of diabetes for the purpose of studying disease pathogenesis, prevention and treatment. The consortium consists of thirteen “pathobiology sites” that study complications such as diabetic nephropathy, uropathy, neuropathy, cardiomyopathy and vascular disease. Additional goals of the AMDCC are to define standards to validate each diabetic complication for its similarity to the human disease, test the role of candidate genes that emerge from human genetic studies, and facilitate the exchange of animals, reagents, and expertise between members of the consortium and the greater scientific community. To ensure that all mice generated under the auspices of the AMDCC are phenotyped for a full duration of diabetes and across all relevant complications, the consortium has formed a close partnership with the NIDDK-funded Mouse Metabolic Phenotyping Centers (MMPCs). The MMPCs (www.mmpc.org) conduct detailed metabolic phenotyping of genetically altered mice and other mouse models that are useful for understanding diabetes and its complications, obesity, and related metabolic diseases or conditions.

For more information, contact Dr. Chris Ketchum, KUH, Director, Basic Renal Biology Program.

The mission of the BCBC is to facilitate interdisciplinary approaches that will advance our understanding of pancreatic islet cell development, regenerative capacity and function. The long-term goal is to develop a cell-based therapy, or treatments leading to controlled beta-cell renewal, in order to restore normal insulin production to diabetic patients.

For more information, contact Dr. Olivier Blondel, DEM, Director, Endocrine Systems Biology Program or Dr. Sheryl Sato , DEM, Director, Neurobiology of Obesity and Developmental Biology Programs.

On July 1, 2003, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) established Central NIDDK Repositories for biosamples and data collected in clinical studies. The purpose of the Central Repositories is to expand the usefulness of these studies by providing access to the biosamples and data to a wider research community beyond the end of the study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The Centers are housed at outstanding academic institutions, staffed by experts in state-of-the-art technology. Researchers can ship mice to one of the four Centers and obtain on a fee-for-service basis a range of complex exams used to characterize mouse metabolism, blood composition including hormones, energy balance, eating and exercise, organ function and morphology, physiology and histology. Many tests are done in living animals and are designed to elucidate subtle to complex traits that would define models of metabolic disease.

For more information, contact Dr. Maren Laughlin, DEM, Senior Advisor for Integrative Metabolism.

NMRI is a communication network of current and potential biomedical research investigators and technical personnel from traditionally under-served communities: African American, Hispanic American, American Indian, Alaskan Native, Native Hawaiian, and other Pacific Islanders. The major objective of the network is to encourage and facilitate participation of members of underrepresented racial and ethnic minority groups in the conduct of biomedical research in the fields of diabetes, endocrinology, metabolism, digestive diseases, nutrition, kidney, urologic and hematologic diseases. A second objective is to encourage and enhance the potential of the underrepresented minority investigators in choosing a biomedical research career in these fields. An important component of this network is promotion of two-way communications between network members and the NIDDK.

For more information, contact Ms. Winnie Martinez, Program Analyst, Office of Minority Health Research Coordination.

Commensurate with this directive, NURSA's goals can be distilled into two broad aims: (i) to execute research strategies designed to rapidly and efficiently elucidate those facets of orphan nuclear receptor biology we deem most critical to its understanding; and (ii) to facilitate the generation of hypotheses, design of experiments and communication of results by scientists active in this field. We anticipate that this initiative will provide a valuable service to the nuclear receptor community by developing a web-accessible bioinformatics resource, in which current and emerging data will be organized into more accessible and "user-mineable" forms.

For more information, contact Dr. Ronald Margolis, DEM, Senior Advisor, Molecular Endocrinology.

Genetics and Genomics Reagents

The mission of the BCBC is to facilitate interdisciplinary approaches that will advance our understanding of pancreatic islet cell development, regenerative capacity and function. The long-term goal is to develop a cell-based therapy, or treatments leading to controlled beta-cell renewal, in order to restore normal insulin production to diabetic patients.

For more information, contact Dr. Olivier Blondel, DEM, Director, Endocrine Systems Biology Program or Dr. Sheryl Sato , DEM, Director, Neurobiology of Obesity and Developmental Biology Programs.

On July 1, 2003, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) established Central NIDDK Repositories for biosamples and data collected in clinical studies. The purpose of the Central Repositories is to expand the usefulness of these studies by providing access to the biosamples and data to a wider research community beyond the end of the study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The National Gene Vector Laboratories (NGVL) are composed of an interactive group of academic production and pharm/tox laboratories whose primary goal is to provide eligible investigators with clinical grade vectors for phase I/II gene therapy clinical trials and to provide support for relevant pharmacology/toxicology studies leading up to clinical gene transfer protocols. If the application is approved, clinical grade material will be produced at no cost to the investigator.

For more information, contact Dr. Catherine McKeon, DEM, Senior Advisor for Genetic Research in Diabetes, Endocrinology and Metabolic Diseases.

Genetics and Genomics Services

The mission of the BCBC is to facilitate interdisciplinary approaches that will advance our understanding of pancreatic islet cell development, regenerative capacity and function. The long-term goal is to develop a cell-based therapy, or treatments leading to controlled beta-cell renewal, in order to restore normal insulin production to diabetic patients.

For more information, contact Dr. Olivier Blondel, DEM, Director, Endocrine Systems Biology Program or Dr. Sheryl Sato , DEM, Director, Neurobiology of Obesity and Developmental Biology Programs.

On July 1, 2003, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) established Central NIDDK Repositories for biosamples and data collected in clinical studies. The purpose of the Central Repositories is to expand the usefulness of these studies by providing access to the biosamples and data to a wider research community beyond the end of the study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

The Centers are housed at outstanding academic institutions, staffed by experts in state-of-the-art technology. Researchers can ship mice to one of the four Centers and obtain on a fee-for-service basis a range of complex exams used to characterize mouse metabolism, blood composition including hormones, energy balance, eating and exercise, organ function and morphology, physiology and histology. Many tests are done in living animals and are designed to elucidate subtle to complex traits that would define models of metabolic disease.

For more information, contact Dr. Maren Laughlin, DEM, Senior Advisor for Integrative Metabolism.

This project is a collaboration of four centers, working on a genome-wide basis, to generate a finished sequence of the non-obese diabetic (NOD) mouse genome, dovetailing with a number of targeted sequencing programs.

For more information, contact Dr. Beena Akolkar, DEM, Director, Immunopathogenesis and Genetics of Type 1 Diabetes Program.

Genetics and Genomics Standardization Programs

Genetics and Genomics Tissues, Cells, Animals

The AMDCC is an interdisciplinary consortium designed to develop animal models that closely mimic the human complications of diabetes for the purpose of studying disease pathogenesis, prevention and treatment. The consortium consists of thirteen “pathobiology sites” that study complications such as diabetic nephropathy, uropathy, neuropathy, cardiomyopathy and vascular disease. Additional goals of the AMDCC are to define standards to validate each diabetic complication for its similarity to the human disease, test the role of candidate genes that emerge from human genetic studies, and facilitate the exchange of animals, reagents, and expertise between members of the consortium and the greater scientific community. To ensure that all mice generated under the auspices of the AMDCC are phenotyped for a full duration of diabetes and across all relevant complications, the consortium has formed a close partnership with the NIDDK-funded Mouse Metabolic Phenotyping Centers (MMPCs). The MMPCs (www.mmpc.org) conduct detailed metabolic phenotyping of genetically altered mice and other mouse models that are useful for understanding diabetes and its complications, obesity, and related metabolic diseases or conditions.

For more information, contact Dr. Chris Ketchum, KUH, Director, Basic Renal Biology Program.

The mission of the BCBC is to facilitate interdisciplinary approaches that will advance our understanding of pancreatic islet cell development, regenerative capacity and function. The long-term goal is to develop a cell-based therapy, or treatments leading to controlled beta-cell renewal, in order to restore normal insulin production to diabetic patients.

For more information, contact Dr. Olivier Blondel, DEM, Director, Endocrine Systems Biology Program or Dr. Sheryl Sato , DEM, Director, Neurobiology of Obesity and Developmental Biology Programs.

On July 1, 2003, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) established Central NIDDK Repositories for biosamples and data collected in clinical studies. The purpose of the Central Repositories is to expand the usefulness of these studies by providing access to the biosamples and data to a wider research community beyond the end of the study.

For more information, contact Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

 
HBDI maintains a repository of DNA and immortalized cell lines collected from 540 families of subjects with type 1 diabetes. It also houses a database that includes more than 6700 families with diabetes, related complications and other genetic diseases.

The Liver Tissue Procurement and Distribution System (LTPADS) is a National Institutes of Health (NIH) service contract to provide human liver from regional centers for distribution to scientific investigators throughout the United States. These USA regional centers have active liver transplant programs with human subjects' approval to provide portions of the resected pathologic liver for which the transplant is performed. Frozen or fresh tissue is available from subcontractors for the usual forms of childhood and adult cirrhosis, fulminate liver failure, chronic rejection, and certain inborn errors of metabolism. “Normal” liver specimens may be requested, however, the supply is appropriately very limited and completion of large proposal requests is unlikely. A new service is now offered to provide isolated hepatocytes only to NIH investigators from "normal" human liver.

For more information, contact Dr. Jose Serrano, DDN, Director, Liver and Biliary Program and Pancreas Program.

The Centers are housed at outstanding academic institutions, staffed by experts in state-of-the-art technology. Researchers can ship mice to one of the four Centers and obtain on a fee-for-service basis a range of complex exams used to characterize mouse metabolism, blood composition including hormones, energy balance, eating and exercise, organ function and morphology, physiology and histology. Many tests are done in living animals and are designed to elucidate subtle to complex traits that would define models of metabolic disease.

For more information, contact Dr. Maren Laughlin, DEM, Senior Advisor for Integrative Metabolism.

The goal of the MMRRC program is to enhance the availability of and help ensure the quality of genetically modified mice for biomedical research of human and animal biology and disease.

For more information, contact Dr. Kristin Abraham, DEM, Director, Cell Signaling and Diabetes Centers Program.

Receives blood samples collected in many different studies, and processes them to create immortalized cell lines, and DNA samples. In addition, the Genetics Repository also cryopreserves blood cells, extracts DNA from blood samples, stores samples of DNA under optimal conditions, and distributes DNA samples to qualified investigators.

For more information, contact Dr. Beena Akolkar, DEM, Director, Immunopathogenesis and Genetics of Type 1 Diabetes Program or Dr. Robert Karp, DDN, Director, Genetics and Genomics Programs in Digestive Diseases and Obesity Programs or Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases.

NIDDK has funded a Type 1 Diabetes Resource (T1DR) at The Jackson Laboratory (TJL). The purpose of this resource is to collect and cryopreserve ~150 mouse stocks important to research in type 1 diabetes.

For more information, contact Dr. Kristin Abraham, DEM, Director, Cell Signaling and Diabetes Centers Program.

Genetics and Genomics Useful Tools