The Central Biorepository receives biospecimens and data from University contributors across the spectrum of medical research. Specific biospecimens from Michigan Medicine patients are annotated with clinical data and are discoverable through DataDirect. Several programs also enroll patients outside of Michigan Medicine, and samples from these participants may be available as well. Please submit a CBR Use Proposal Form if you would like permission to use CBR program samples and data. Each use proposal will be reviewed by a program-specific Oversight Committee for approval. Whenever possible, the Biorepository will provide a final dataset for analysis in coded form.
Biospecimens from chronic kidney disease biobanks are available directly through those programs (C-Probe Core of The George M. O'Brien Michigan Kidney Translational Core Center, and Nephrotic Syndrome Study Network.)
Analgesic Outcomes Study
PI: Chad Brummett, M.D.
Any patient who is receiving a group of pre-specified group of surgeries are eligible to participate (e.g. total knee and hip arthroplasty, hysterectomy, thoracic surgery). Patients must be 18 years of age or older and will be asked to complete 10-15 minutes’ worth of questionnaires pre-operatively about pre-operative pain and overall health and well-being. Participation also includes brief follow-up phone calls and/or mailings for questions of pain, mood and function. Phone call follow-ups are typically less than 10 minutes. The packet that is sent in the mail is very similar to the packets filled out on the day of surgery. DNA from blood samples is sequenced for the genome/genetic material and stored securely at University of Michigan. As of December 2015, AOS participation no longer requires genetic analyses; however, many patients are co-enrolled in MGI to allow for genetic analyses.
Cancer Genetics Registry
PI: Elena Stoffel, M.D.
The overall goal of this project is to establish a cancer genetics registry (CGR) to improve clinical care and to facilitate research regarding hereditary cancers. These goals will be pursued through the following specific aims:
Specific Aim 1
Create a database to collect medical and family history information on patients at risk for hereditary forms of cancer.
Individuals participating in the registry will provide demographic, medical and family history information that will be entered into a secured database. Use of a database to organize this information will facilitate data collection and analysis for studies assessing cancer risks and effectiveness of screening and prevention measures. This database will also support the subsequent objectives.
Specific Aim 2
Identify and educate other at-risk and affected relatives of probands enrolled in the registry.
Pedigree analysis will be used to identify other affected and at-risk family members. Participants will be asked to contact these relatives and provide them with packets containing educational information about the cancer risks in the family and offering participation in the registry. Obtaining information directly from other affected family members will also increase the accuracy of information included in the registry rather than relying solely on the report of the proband.
Specific Aim 3
Implement longitudinal tracking of registry participants.
Participants will be re-contacted over time to obtain an updated medical history, results of screening examinations and treatment, and changes in family history. Educational materials such as newsletters and pamphlets will be incorporated into the follow-up to keep participants updated on new developments and changes in screening recommendations. These data will provide the foundation for future clinical studies of prognosis, surveillance, and treatment outcomes. National Death Index data will be accessed for passive follow-up of vital status approximately every 3 years.
Specific Aim 4
Analyze genomic and tumor DNA and RNA to facilitate studies identifying and characterizing the molecular phenotype of inherited cancers.
Tumor tissue will be analyzed to determine identify molecular markers associated with inherited cancers. Genomic DNA and RNA from blood, saliva samples or cheek swabs will be used for studies designed to identify novel cancer predisposition genes and modifier genes.
Specific Aim 5
Develop Mendelian models for evaluating the probability that an individual carries a mutation in a cancer susceptibility gene.
Data from the Cancer Genetics Registry will be used to develop carrier probability models using ethnicity, pedigree structure, genetic testing data, and diagnoses of cancer to calculate 1) probabilities of carrying deleterious mutations, 2) probabilities of developing colorectal cancer and related cancers.
Cardiovascular Health Improvement Project (CHIP)
PI: Cristen Willer. Ph.D.
Cardiovascular Disease (CVD) is one of the leading causes of death in the United States. The goal of the Cardiovascular Health Improvement Project (CHIP) is to learn more about individuals with aortic diseases and other cardiovascular-related conditions through collecting and analyzing blood and clinical data from patients.
By doing this, we can learn more about the genetics behind CVD, help clinicians provide the best care for their patients, and lower the incidence of CVD.
CHIP is a collection (or “biorepository”) of DNA, plasma, serum, and aortic tissue samples as well as an extensive clinical database of medical and family history information.
We are currently enrolling patients who have one or more of the following diagnoses or demographics:
- Aortic disease
- Connective tissue disorders
- Bicuspid aortic valve
- Heart Failure
- Facilitate scientific discovery by providing researchers and faculty with biospecimens and clinical information.
- Establish a biorepository of DNA, cell pellet, serum, plasma, and aortic tissue.
- Establish a comprehensive database.
Clinical Phenotyping Resource and Biobank Core (C-PROBE)
PI: Matthias Kretzler, M.D.
Chronic kidney disease (CKD) affects approximately 26 million Americans and disproportionately manifests in specific race and ethnic groups. Patients burdened with CKD have significant morbidity and reduced life expectancy. In addition to excessive suffering and lost productivity, the cost of managing this epidemic has reached $40 billion annually. The recognition that CKD is a major public health problem is reflected in the 14 objectives outlined in Healthy People 2020 to begin to address the disease burden.
The Clinical Phenotype Resource and Biobank Core (C-PROBE) is well positioned to drive T1 translational research to promote medical advancement in CKD. C-PROBE is the human subjects core of the Michigan O’Brien Kidney Translational Core and the main cohort is funded by the NIDDK (2P30DK081943-06) and the University of Michigan. The main focus of C-PROBE is to develop and maintain an infrastructure that will serve as an interface between patients in the clinical care setting (in southeast Michigan, Chicago, IL, Philadelphia, PA and Charlotte, NC) and biomedical investigators to streamline translational research in kidney disease.
Head and Neck Repository
PI: Chad Brenner, Ph.D.
The objective of the HN Oncology Program is to learn more about head and neck cancer biology, find better ways to prevent HN cancer, and better ways to treat these cancers. We believe that advances in the treatment and prevention of HN cancer will be based on better understanding of specific molecular and genetic alterations typical of individual tumors.
Inflammatory Bowel Disease Databank
PI: Peter Higgins, M.D., Ph.D.
The Inflammatory Bowel Disease (IBD) Databank seeks to collect clinical, immunologic, genetic, and survey data from patients with IBD. Currently, IBD is poorly understood. It appears to be due to an abnormal interaction between the microbiologic flora of the intestine and the immune system of a genetically susceptible individual. The resulting chronic inflammatory response causes structural damage to the intestine, waxing and waning flares of inflammation, and increased risk of colon cancer. The information collected will be used to correlate data on subjects with IBD in an exploratory fashion, to generate hypotheses about epidemiology, pathophysiology, and causation. Because we believe there are subtypes of disease, the data may lead to new directions and studies in the therapy of IBD in one or more of these subtypes.
Interstitial Lung Disease Biorepository and Registry
PI: Eric White, M.D.
Interstitial lung diseases (ILDs) comprise a group of pulmonary disorders that result in inflammation and/or scarring of the lung. Despite decades of work, clinical trials have been slow to identify novel therapies to slow progression of disease, and none have identified therapies to reverse scar formation.
Because interstitial lung diseases are often modeled in rodents, it is difficult to translate findings in the lab to humans. Thus, accelerating discovery research in human tissues, cells, biologic fluids, and DNA is critical to make advances in the treatment of these patients. However, interstitial lung diseases are rare, making it difficult for any one investigator to see enough patients to obtain samples. Therefore, we propose to create a human interstitial lung disease biorepository of biologic fluids, lung cells, lung tissues, and peripheral blood that are collected as part of routine medical care of patients with ILD. Separately, we will also consent subjects to collect and store DNA in the biorepository. Samples will be linked to the subject’s clinical information in a coded fashion so that we can better understand how biologic processes in the samples might correlate with disease activity and outcomes.
Investigational Weight Management Clinic
PI: Charles Burant, M.D.
The Weight Management Program at the University of Michigan was created to identify strategies that will result in cost-effective, long-term weight management for overweight and obese individuals. The driving hypothesis of the clinic is that the ‘one size fits all’ philosophy is untenable with a complex disease such as obesity. The clinic will serve as a portal for patients to choose standard clinical care or to explore alternatives from a variety of clinical studies offered through the clinic. These studies will include further investigations into nutrition, the biological basis of weight and weight management and protocols using approved and experimental pharmaceuticals.
Mental Health BioBank (MHB2)
PIs: Vicki Ellingrod, Pharm.D. and Srijan Sen, M.D., Ph.D.
The U-M MHB2 universally enrolls every adult outpatient psychiatry patient who consents into the genetic biobank, and provides permission to re-contact participants for additional and more specific research studies. Patients provide a saliva sample to be used for DNA extraction and access to medical record data. With the establishment of a large-scale DNA biobank for mental health, scientists will be able to perform genome-wide association studies (GWAS) to identify genetic variants associated with mental illness and treatment response.Genotyping, which is the process of determining differences in the genetic make-up of an individual by examining the individual's DNA, has become more cost effective and efficient in the last few years. This has resulted in the ability to obtain large population samples in order to examine genetic variants associated with complex health disorders, including mental health.
Michigan Genomics Initiative
PI: Gonçalo Abecasis, Ph.D.
The Michigan Genomics Initiative (MGI) aims to create an institutional repository of DNA and genetic data for broad long-term use. All pre-operative patients 18 years of age or older are eligible for participation in the Medical School Central Biorepository. The biorepository in essence, is a genetic library for researchers at University of Michigan and at other research institutions, including the National Institute of Health, to use for several types of studies. Participation includes a small blood sample on the day of surgery and filling out a short questionnaire regarding pre-operative pain and basic lifestyle questions. Patients may be contacted in the future for any study that is conducted through the biorepository. DNA from blood samples is sequenced for the genome/genetic material and stored securely at the University of Michigan.
Michigan Genomics Initiative – Metabolism and Endocrinology
PI: Charles Burant, M.D.
We propose to discover genetic loci and variants that influence type 2 diabetes mellitus (T2DM) risk and variability in T2DMrelated quality traits. Our aim is to identify genetic variants that predispose individuals to T2DM and that are responsible for variability in T2DMrelated quantitative traits locally and globally. Our hypothesis is that certain genetic variants increase the risk for T2DM and its complications. Genetic studies have detected >70 loci associated with T2D and >400 for the related quantitative traits (QTs) of glucose and insulin, body mass index (BMI) and waist to hip ratio (WHR), lipids, and blood pressure. However, the causal variants and functional units (e.g. genes, promoters, enhancers) remain largely unknown. GWAS data on larger samples, genotype data for arrays like Metabochip and exomechip, analysis of more detailed phenotypes, and analysis across multiple ethnicities, will help fine map existing T2D and QT loci, identify additional independent variants at know loci, and identify novel loci. More complete lists of T2D and QT loci will increase power for pathway analysis, and provide additional opportunities to identify loci that appear particularly tractable for functional studies or as drug targets.
Negative Controls for Cerebrospinal Fluid Studies
PI: Benjamin Singer M.D., Ph.D.
Studies of cerebrospinal fluid (CSF) are important for multiple clinical research questions, including understanding neuroinflammation, infection, and brain malignancy. Adequately controlling these studies requires enrolling normal control subjects, which involves risk for these subjects. A central repository of CSF that can be used as control specimens will facilitate numerous other studies and reduce risk for participants. Since obtaining CSF requires an invasive lumbar puncture, identifying study subjects to serve as normal controls in studies of CSF pathology is often difficulty. Patients with normal pressure hydrocephalus (NPH) may undergo drainage of a large volume of CSF as part of their diagnostic workup, which is usually discarded. We will save and bank this excess CSF at the Michigan Medicine Central Biorepository for use as a shared resource to facilitate multiple future studies.
Potential subjects will be approached about the study and for informed consent either in clinic or upon admission to the neurosurgical service. During the lumbar drainage procedure, CSF is drained hourly into a bag collection system. For 1 drainage procedure, the patient's nurse will be provided with a fresh sterile bag for collection. Changing the drainage bag is a routine part of clinical care. The CSF sample will then be divided, frozen, and delivered to the Michigan Medicine Central Biorepository for storage. Specimens will be labelled with a de-identified bar code.
The patient's MRN will be provided to the biorepository for future linkage to medical records.
Nephrotic Syndrome Study Network (NEPTUNE)
PI: Matthias Kretzler, M.D.
The Nephrotic Syndrome Study Network (NEPTUNE) is a North American multi-center collaborative consortium established to develop a translational research infrastructure for Nephrotic Syndrome. This includes a longitudinal observational cohort study, a pilot and ancillary studies program, a training program, and a patient contact registry. NEPTUNE will enroll 450 adults and children with minimal change disease, focal segmental glomerulosclerosis and membranous nephropathy for detailed clinical, histopathologic, and molecular phenotyping at the time of clinically-indicated renal biopsy. Initial visits will include an extensive clinical history, physical examination, collection of urine, blood and renal tissue samples, and assessments of quality of life and patient-reported outcomes. Follow-up history, physical measures, urine and blood samples, and questionnaires will be obtained every 4 months in the first year and bi-annually, thereafter. Molecular profiles and gene expression data will be linked to phenotypic, genetic, and digitalized histologic data for comprehensive analyses using systems biology approaches. Analytical strategies were designed to transform descriptive information to mechanistic disease classification for Nephrotic Syndrome and to identify clinical, histological, and genomic disease predictors. Thus, understanding the complexity of the disease pathogenesis will guide further investigation for targeted therapeutic strategies.
Prechter Bipolar Genetic Repository
PI: Melvin McInnis, M.D.
As part of the Heinz C. Prechter Bipolar Genes Project, the Prechter Bipolar Genetics Repository has been established to study and conquer bipolar disorder. Our repository is the nation’s largest privately-funded bipolar genetics repository, and is collecting DNA samples from people who have been diagnosed with bipolar disorder as well as healthy individuals. The University of Michigan is collaborating on this effort with our independently approved partner sites: Johns Hopkins, Penn State, Stanford and Weill Cornell Universities.
Together, these investigators are working with their research teams on specific studies to collect phenotypic information, or observable traits, and DNA on thousands of bipolar individuals and control participants. They are also collecting a depth of data and biological materials gathered on the research participants who contribute the samples, including imaging data, electrophysiology, nutrition, stem cells, sleep, medication data, and speech data. The repository data has a richness unlike any other collection of bipolar research data in the world.
The Genetics Repository enables pilot studies to address bolder questions. Studies that are based on new findings will be able to proceed more expeditiously. The Genetics Repository is a vitally important tool to rapidly accelerate genetic research, one of the most significant areas of study today.
The goal of the Prechter Bipolar Genetics Repository is to one day provide confidential, coded DNA samples and clinical information to scientists worldwide to accelerate knowledge breakthroughs.
Significance of Cardiac Troponin
PI: Michael Maile, M.D.
Elevated serum concentrations of cardiac troponin (cTn) in critically ill patients are common and associated with morbidity and mortality. Troponins are regulatory proteins released from injured muscle cells. Since cardiac muscle has specific isotypes, elevated plasma levels of cTn considered to be synonymous with myocardial injury. However, this injury can have many different etiologies. The objective of this project is to characterize the population of critically ill patients affected by this condition and identify the most common associated adverse events. By doing this, we will test our central hypothesis, that the phenotype and outcomes differ in critically ill patients with and without ECTUS.
Skin Cancer Registry
PI: Alison Durham, M.D.
As part of a UM comprehensive multidisciplinary skin cancer program, this study establishes a Tissue and Histopathology Core, which will extend our understanding of the molecular events of skin cancer growth and progression through detailed study of correlations of molecular characteristics with biologic tumor behavior. The Core includes tissue procurement, processing, storage and data management, blood and genetic analysis.