Resources for Researchers : Genetics and Genomics

Genetics and Genomics Databases, Registries and Information

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Beta Cell Biology Consortium (BCBC)

http://www.betacell.org/     Exit Disclaimer

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.

Bioinformatics Information Support Contract (BISC)

http://www.niddk.nih.gov/fund/diabetesspecialfunds/consortia/BISC.pdf

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.

Central NIDDK Repository for Biosamples and Data

http://www.niddkrepository.org     Exit Disclaimer

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.

Human Biological Data Interchange

http://www.ndriresource.org/Biospecimens_Programs/HBDI/36/     Exit Disclaimer

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.

Inflammatory Bowel Disease Genetic Consortium (IBDGC)

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. Additional information can be obtained at: http://info.med.yale.edu/intmed/ibdgc/index.html Exit Disclaimer

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

Major Histocompatibility Complex Database (dbMHC)

http://www.ncbi.nlm.nih.gov/projects/mhc/MHC.fcgi?cmd=init     Exit Disclaimer

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.

Mouse Metabolic Phenotyping Centers (MMPC)

http://www.mmpc.org     Exit Disclaimer

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.

National Gene Vector Laboratories (NGVL)

http://www.ngvl.org/     Exit Disclaimer

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.

Nuclear Receptor Resource Project (NRR)

http://nrr.georgetown.edu/NRR/nrrhome.htm     Exit Disclaimer

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.

Nuclear Receptor Signaling Atlas (NURSA)

http://www.nursa.org/     Exit Disclaimer 

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

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Action for Health in Diabetes (Look AHEAD): This study is a 16-center, randomized clinical trial investigating the long-term health consequences of weight loss. The Look AHEAD cohort comprises approximately 5,000 overweight or obese participants with type 2 diabetes, aged 45-76. Participants were randomized to one of two interventions: an intensive lifestyle intervention designed to produce and sustain weight loss over the long term or a diabetes support and education arm. Participants will be followed for a total of 11 to 13.5 years from randomization. Additional information can be obtained at: www.lookaheadtrial.org     Exit Disclaimer

For more information, contact Dr. Mary Evans, DDN, Director, Special Projects in Nutrition, Obesity, and Digestive Diseases.



Acute Liver Failure Study Group (ALFSG)

The ALFSG is collecting biosamples and information on the natural history, causes and outcomes of Acute Liver Failure (ALF) in the United States. In addition to the database, a clinical trial was conducted to test whether the drug N-acetylcysteine improves outcome (survival) for patients with ALF not caused by acetaminophen overdose has recently been published. Results can be found at:
http://www.ncbi.nlm.nih.gov/pubmed/19524577?  itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVAbstract Exit Disclaimer
Additional information can be obtained at:
www8.utsouthwestern.edu/utsw/cda/dept25203/files/89624.html Exit Disclaimer

For more information, contact Dr. Patricia Robuck, DDN, Director for Clinical Trials in Digestive Diseases and Nutrition Program.



Adolescent Bariatrics: Assessing Health Benefits and Risks (Teen-LABS)

The Teen-LABS consortium is made up of five clinical centers and a data coordinating center. The goal of Teen-LABS is to facilitate coordinated clinical, epidemiological, and behavioral research in the field of adolescent bariatric surgery, through an observational study protocol for uniform data collection pre-operative, at surgery, and through 2 years post-operative at participating centers performing bariatric surgery on teenagers.  The use of standardized definitions and data-collection instruments for sequential patients scheduled for surgery at each site will yield meaningful evidence-based recommendations for patient evaluation, selection, and follow-up care. In addition to investigating surgical outcomes, another broader goal of Teen-LABS is to better understand the etiology, pathophysiology, and behavioral aspects of severe obesity in youth and how this condition affects human beings over time. Additional information can be found at: www.cincinnatichildrens.org/research/project/teen-labs/ Exit Disclaimer

For more information, contact Dr. Mary Horlick, DDN, Director, Pediatric Clinical Obesity Program.

 

Adult-to-Adult Living Donor Liver Transplantation Cohort Study (A2ALL)

This study supports nine liver transplant centers with expertise in adult living-donor liver transplantation (LDLT) and a central data coordinating center. The major aims of A2ALL are as follows:

  • Quantify the impact of choosing LDLT on the candidate for transplantation
  • Characterize the difference between LDLT and deceased donor liver transplant (DDLT) in terms of post-transplant outcomes, including patient and graft survival, surgical morbidity, and resource utilization on the recipient of a transplant
  • Determine the short- and long-term health and quality of life (QOL) impact of donation, including (a) morbidity after liver donation and (b) long-term health-related QOL of donors.
  • Standardize and assess the role of "informed consent" in affecting the decision to donate and satisfaction after living liver donation
  • Other aims include comparison of the severity of recurrence of hepatocellular carcinoma for DDLT versus LDLT, the systematic characterization of liver regeneration and function in donors and recipients, the evaluation of the differences in the immune response to LDLT versus DDLT, and the establishment of a robust data and sample repository on liver transplantation that may be used to study clinical and biological questions as new technologies and resources become available. Patients enrolled in the study will be followed and managed in a standardized fashion. Additional information can be obtained at:
  • www.nih-a2all.org  Exit Disclaimer
    For more information, contact
    Dr. Jay Everhart, DDN, Director, Epidemiology and Data Systems Branch.

 

Childhood Liver Disease Research and Education Network (ChiLDREN)

The overall goal of ChiLDREN is to establish a database of clinical information and serum and tissue samples from children across the United States and Canada with Biliary Atresia, Idiopathic Neonatal Hepatitis, Cystic Fibrosis Liver Disease, Alagille Syndrome, Alpha-1 Antitrypsin Deficiency, Bile Acid Synthesis Defects, Mitochondrial Hepatopathies, and Progressive Familial Intrahepatic Cholestasis in order to facilitate research and to perform clinical, epidemiological, and therapeutic trials in these important pediatric liver diseases. Three NIDDK-funded consortia, Biliary Atresia Research Consortium (BARC), Cholestatic Liver Disease Consortium (CLiC), and the Cystic Fibrosis Liver Disease (CFLD) Network were consolidated to form ChiLDREN. Additional information can be obtained at:
www.childrennetwork.org
Exit Disclaimer 

For more information, contact
Dr. Patricia Robuck, DDN, Director for Clinical Trials in Digestive Diseases and Nutrition Program.

 

Drug-Induced Liver Injury Network (DILIN)

Both a prospective and retrospective database containing cases of drug-induced liver disease, DILIN is funded by a cooperative agreement and includes five clinical centers and a central data coordinating center. One of the goals of DILIN is to establish a database of well-characterized cases of drug-induced liver injury along with serum, DNA, and tissue samples that will facilitate research on the mechanisms of hepatic injury due to drugs. Cases of liver injury due to herbal medications are also included. DILIN will develop standardized definitions of drug-induced liver disease and standardization of scoring systems for causality. Additional information can be obtained at: https://dilin.dcri.duke.edu Exit Disclaimer

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


Family Investigation of Nephropathy of Diabetes (FIND)

http://darwin.cwru.edu/FIND     Exit Disclaimer

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.


Gastroparesis Clinical Research Consortium (GpCRC): The GpCRC is focusing on the etiology, natural history, and therapy of gastroparesis. The goal of this consortium is to perform clinical, epidemiological, and therapeutic research in gastroparesis and provide an infrastructure that can rapidly and efficiently design and conduct clinical trials for effective medical, surgical, or other interventions to improve treatment of patients with gastroparesis. The GpCRC studies comprise well characterized individuals with diabetic, surgical, and idiopathic gastroparesis. Additional information can be obtained at: www.jhucct.com/gpcrc Exit Disclaimer

For more information, contact Dr. Frank Hamilton, DDN, Director, Gastrointestinal Motility Program.

 

Hepatitis C Antiviral Long-Term Treatment against Cirrhosis (HALT-C) Trial

This prospective, randomized, controlled clinical trial studied long-term therapy with peginterferon in patients with chronic hepatitis C. Patient enrollment began in 2000 and was completed in 2003 at 10 clinical centers, which were supported by a data coordinating center, virological testing center, and central sample repository. Patients with chronic hepatitis C and advanced fibrosis or cirrhosis on liver biopsy who failed to respond to a previous course of interferon alfa were enrolled in this study. Patients were initially treated with a 24-week course of peginterferon alfa-2a and ribavirin. Patients who remained hepatitis C virus RNA positive were then randomized to receive maintenance, low-dose peginterferon or to be followed on no treatment. Liver biopsies were done before enrollment and after 2 and 4 years of treatment or follow-up. The endpoints were development of cirrhosis, hepatic decompensation, hepatocellular carcinoma, death, or liver transplantation. 1050 patients were randomized and followed through the 4 year randomized phase of the trial and as long as 4 years off treatment.  Serum samples collected at multiple time points, DNA and liver tissue are available for scientific investigation. Additional information can be obtained at:
www.haltctrial.org  Exit Disclaimer

For more information, contact Dr. Jay Everhart, DDN, Director, Epidemiology and Data Systems Branch.

Inflammatory Bowel Disease Genetic Consortium (IBDGC)

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. Additional information can be obtained at: http://info.med.yale.edu/intmed/ibdgc/index.html  Exit Disclaimer

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

Longitudinal Assessment of Bariatric Surgery (LABS) Consortium: The LABS consortium comprises six clinical centers and a data coordinating center. The goal of LABS is to facilitate coordinated clinical, epidemiological, and behavioral research in the field of bariatric surgery, through the cooperative development of common clinical protocols and a bariatric surgery database that will collect information from participating clinical centers. LABS will help pool the necessary clinical expertise and administrative resources to facilitate the conduct of multiple clinical studies in a timely, efficient manner. Also, the use of standardized definitions, clinical protocols, and data-collection instruments will enhance the investigator's ability to provide meaningful evidence-based recommendations for patient evaluation, selection, and follow-up care. The consortium was funded in September 2003. The investigators have collaboratively developed a core database and clinical protocols, and subject enrollment began in early 2005. Additional information can be obtained at: www.niddklabs.org Exit Disclaimer

 For more information, contact Dr. Carolyn Miles, DDN, Director, Clinical Obesity and Nutrition Program.


Maryland Genetics of Interstitial Cystitis (MaGIC)

http://icresearch.umaryland.edu/magic.aspx  

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.


Nonalcoholic Steatohepatitis Clinical Research Network (NASH CRN)

The NASH CRN researches the nature and underlying cause of NASH and conducts clinical studies on prevention and treatment.
Approximately 1,500 pediatric and adult participants throughout the United States and Canada with nonalcoholic fatty liver disease (NAFLD) have enrolled into a database which began in late 2003. The NASH CRN has recently reopened the database to enroll additional pediatric and adult participants with NAFLD. Serum, liver tissue, and genomic DNA samples are being collected and stored in the NIDDK repository for ongoing as well as future studies. A three-arm randomized, placebo-controlled clinical trial of pioglitazone versus vitamin E completed enrollment in 2009. In addition to this adult trial, a similar trial in pediatric NASH patients randomized 180 children to receive treatment with vitamin E, metformin, or placebo. Additional information can be obtained at: www.nashcrn.com Exit Disclaimer

For more information, contact Dr. Patricia Robuck, DDN, Director for Clinical Trials in Digestive Diseases and Nutrition Program.


Pediatric Acute Liver Failure (PALF) Study
This multi-center, multi-national collaborative group of pediatric clinical liver centers is aimed at identifying, characterizing, and developing management strategies for infants, children, and adolescents who present with acute liver failure (ALF). In addition to a database of pediatric patients with ALF, a clinical trial is being conducted to test whether the drug N-acetylcysteine (NAC) improves outcome (survival) for patients with ALF not caused by acetaminophen overdose. Additional information can be obtained at: www.palfstudy.org Exit Disclaimer

For more information, contact Dr. Patricia Robuck, DDN, Director for Clinical Trials in Digestive Diseases and Nutrition Program.


Swedish Twin Registry Study of Interstitial Cystitis

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

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Animal Models of Diabetic Complications Consortium (AMDCC)

www.amdcc.org     Exit Disclaimer

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.

Beta Cell Biology Consortium (BCBC)

http://www.betacell.org/     Exit Disclaimer

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.

Central NIDDK Repository for Biosamples and Data

http://www.niddkrepository.org     Exit Disclaimer

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.

Mouse Metabolic Phenotyping Centers (MMPC)

http://www.mmpc.org     Exit Disclaimer

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.

Nuclear Receptor Signaling Atlas (NURSA)

http://www.nursa.org/     Exit Disclaimer

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

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Beta Cell Biology Consortium (BCBC)

http://www.betacell.org/     Exit Disclaimer

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.

Central NIDDK Repository for Biosamples and Data

http://www.niddkrepository.org     Exit Disclaimer

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.

National Gene Vector Laboratories (NGVL)

http://www.ngvl.org/     Exit Disclaimer

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

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Beta Cell Biology Consortium (BCBC)

http://www.betacell.org/     Exit Disclaimer

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.

Center for Inherited Disease Research (CIDR)

http://www.cidr.jhmi.edu     Exit Disclaimer

A centralized facility established to provide genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease. CIDR concentrates primarily on multifactorial hereditary disease although linage analysis of single gene disorders can also be accommodated.

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

Central NIDDK Repository for Biosamples and Data

http://www.niddkrepository.org     Exit Disclaimer

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.

Mouse Metabolic Phenotyping Centers (MMPC)

http://www.mmpc.org     Exit Disclaimer

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.

Sequencing the NOD Mouse

http://www.niddk.nih.gov/fund/diabetesspecialfunds/consortia-networks/nod.htm

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

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There are none at this time. Please check back.

Genetics and Genomics Tissues, Cells, Animals

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Animal Models of Diabetic Complications Consortium (AMDCC)

www.amdcc.org     Exit Disclaimer

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.

Beta Cell Biology Consortium (BCBC)

http://www.betacell.org/     Exit Disclaimer

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.

Central NIDDK Repository for Biosamples and Data

http://www.niddkrepository.org     Exit Disclaimer

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.

Human Biological Data Interchange

http://www.ndriresource.org/Biospecimens_Programs/HBDI/36/     Exit Disclaimer
 
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.



Liver Tissue Procurement and Distribution System (LTPADS)

http://www.med.umn.edu/peds/ltpads/     Exit Disclaimer

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.

Mouse Metabolic Phenotyping Centers (MMPC)

http://www.mmpc.org     Exit Disclaimer

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.

Mutant Mouse Regional Resource Centers (MMRRC)

http://www.mmrrc.org/     Exit Disclaimer

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.

NIDDK Genetics Repository

https://www.niddkrepository.org/niddk/home.do     Exit Disclaimer

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.

Type 1 Diabetes Mouse Repository at Jackson Laboratory (T1DR)

http://www.jax.org/t1dr/     Exit Disclaimer

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.

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Page last updated: December 31, 2008

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