Contributing Research Programs

The Central Biorepository receives biospecimens and data from university contributors across the spectrum of medical research. Details about each program can be found below.

Participants in most prospective Central Biorepository research programs consent to broad use of their donated biospecimens. Therefore, research using biomaterials stored at the Central Biorepository is not necessarily restricted to the specific aim(s) of the primary study. 

Programs

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.

(more info)

Biobank to Illuminate the Genomic Basis of pediatRic Disease (BIGBiRD)

PI: Matthew Sampson, M.D.
SC: Julie Balk

As a tertiary care medical system embedded within a world class medical school and university, thousands of children are seen by physicians at CS Mott Children's Hospital and our satellite clinics each year. With the integration of adult and pediatric care at Michigan Medicine, we also have adults with childhood-onset disease who are seen by our colleagues. We have a shared electronic medical record facilitating our ability to identify and enroll patients and aggregate clinical data across the health system. Within the University, the Central Biorepository provides a high-quality option for housing samples and there are multiple resources available to recruit patients in inpatient and outpatient settings.

Altogether, these factors provide us with an incredible opportunity at Michigan Medicine, at this moment in time, to address the challenge of a limited genomic understanding of pediatric disease. We propose to take this first step in doing so through the establishment of the "Biobank to Illuminate the Genomic Basis of pediatRic Disease" ("BIGBiRD") cohort. BIGBiRD will serve as pediatric arm of the overall MGI effort.

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 cancer

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.

CHIP is a collection 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

Specific Aims:

  • 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.

(more info)

Central Biorepository Spotlight: Cardiovascular Disease

Clinical Phenotype 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, Ill., Philadelphia, Pa., and Charlotte, N.C.) and biomedical investigators to streamline translational research in kidney disease.

(more info)

Critical Illness: 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.

Head and Neck Repository

PI: Chad Brenner, Ph.D.

The objective of the Head and Neck (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.

(more info)

Interstitial Lung Disease Biorepository and Registry

PI: Steven Huang, 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.

(more info)

Investigational Weight Management Clinic

PI: Amy Rothberg, M.D.

The Weight Management Program at the University of Michigan was created to identify strategies that will result in cost-effective and 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.

(more info)

Central Biorepository Spotlight: Obesity New!

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 makeup 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.

(more info)

Michigan Genomics Initiative (MGI)

PI: Gonçalo Abecasis, Ph.D.

The Michigan Genomics Initiative (MGI) is a collaborative research effort with the goal of harmonizing patient electronic medical records with genetic data to gain novel biomedical insights. An institutional repository of DNA and genetic data that is linked to medical phenotype and electronic health record (EHR) information, MGI comprises a broad portfolio of data from tens of thousands of individuals, and continues to add approximately ten thousand new participants annually. MGI enrolls participants using a patient-centric informational pamphlet and a simple, opt-in informed consent form. Participants agree to provide the study team with access to EHR data for clinical information and biospecimens for genotyping, and may also be asked to answer survey questions. Each participant may be re-contacted in the future for follow-up studies if he/she has a genotype or clinical condition of interest to investigators. Biospecimens collected (usually a tube of blood or a vial of saliva) are sent the Central Biorepository for processing, and DNA is isolated from the biospecimens. A portion of that DNA is set aside for genotyping.

(more info)

Central Biorepository Spotlight: Medical Genomics

Michigan Genomics Initiative - Metabolism and Endocrinology

PI: Meng Tan, M.D.

We propose to discover genetic loci and variants that influence type 2 diabetes mellitus (T2DM) risk and variability in T2DM-­related quality traits. Our aim is to identify genetic variants that predispose individuals to T2DM and that are responsible for variability in T2DM-­related 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.

(more info)

Michigan Racial Equality and Cardiovascular Health (M-REACH) Project

PI: Cristen Willer, Ph.D.
SC: Bethany Klunder

The purpose of this project is to develop a racially diverse biobank of whole blood samples (pellet), DNA, and genotype data that will be used to primarily study the genetics of cardiovascular disease (CVD). Patients with CVD and their family members will be enrolled so that clinical data and biological specimens may be obtained and analyzed. We will also enroll healthy controls in this study for scientific comparison. A healthy control is defined as unknown or any health status.

Normal 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.

 

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

(more info)

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.

(more info)

Central Biorepository Spotlight: Bipolar Disorder

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.

Central Biorepository Spotlight: Skin Cancer New!

U-M Pregnancy Biobank

PI: Elizabeth Langen, SC: Heather Cameron

This study aims to store biological samples obtained from human pregnancies and provide a mechanism to link these specimens to health information for research projects that include those which are currently operating through other enrollment and collection mechanisms as well as to provide a resource for future work that is not yet planned. We will take advantage of our large clinical volume of normal and complex pregnancies to obtain samples from varying points in pregnancy as well as the immediate post partum period. The biorepository will provide a mechanism to link the biospecimens with health information so that it can later be shared with researchers to help advance medicine.

Central Biorepository Spotlight: Pregnancy New!

Preconception Study

PI: Amy Rothberg, SC: Shannon Considine

This study looks to determine if an aggressive weight loss as part of a comprehensive behavioral lifestyle program in obese women preconception offsets the deleterious effects of maternal obesity on pregnancy outcomes, or fetal growth and development. A growing body of evidence demonstrates that the effects of maternal over nutrition and obesity before conception, and distinct from gestational weight gain, contribute to higher rate of adverse pregnancy outcomes: miscarriage, preeclampsia, gestational diabetes, congenital anomalies, intrauterine fetal death and cesarean section.

Michigan Predictive Activity & Clinical Trajectories (MIPACT) Study

PI: Sachin Kheterpal, M.D., M.B.A.
SC: Chelsea McKinney

A study to understand disease trajectories using Apple Watch sensors, electronic health record, blood pressure monitors, questionnaires of participant survey data, and genomic information. To achieve this objective, we will recruit patients from Michigan Medicine outpatient clinics and acute care settings to the MIPACT (Michigan Predictive Activity & Clinical Trajectories) study. Participants will be prospectively recruited and asked to wear an Apple Watch on a daily basis in addition to taking two sets of blood pressure measurements per day for 30 days using a HealthKit compatible digital non-invasive blood pressure monitor. The participants will provide access to their electronic health record, administrative, and other linkable data sources. Moreover, subjects will consent to provide a biological specimen via blood collection in order to further characterize the subject population.

This study will allow us to accelerate our vision for integrating mobile health and wearable data into clinical care analytics and research analytics. The data would be stored at the University of Michigan for any of our researchers or clinicians to use for research, healthcare delivery, etc.

Sepsis Pathogen Identification Study

PI: J. Scott VanEpps, M.D., Ph.D.
SC: Justin Massey

Rapid administration of appropriate treatment is the key to reducing morbidity and mortality regarding bacterial infections. If not controlled, cases of overwhelming inflammatory response caused by infection (or sepsis) can occur. However, blood cultures – the current standard of care for diagnosis, pathogen identification and antibiotic susceptibility testing (AST) – are limited by long time to result (>48hrs), low sensitivity and specificity, and limited viral or fungal identification.

We have developed a novel, ultrasensitive, polymerase chain reaction (PCR) detection system that couples standard PCR primers to gold nanorods (NR-PCR). This method is at least 50 times more sensitive than the most sensitive PCR detection techniques currently available. In addition, it is particularly sensitive for large (>2nm) DNA strands which improves the specificity of the assay. By coupling our ultrasensistive NR-PCR assay to pathogen specific genetic targets we intend to reduce the time to pathogen identification and antibiotic susceptibility to less than 3 hours. Once optimized for bacterial detection in whole blood, we hypothesize that this assay will be non-inferior to standard blood cultures in terms of sensitivity and specificity. Its clinical benefit will be realized by a dramatic reduction in the time-to-result.The ultimate goal of this study is to perform the first comparison of NR-PCR to the goal standard (i.e., blood culture).

Gynecology Oncology Biorepository

PI: Karen McLean, MD, Ph.D.

There are multiple unmet needs in the clinical field of Gynecologic Oncology, and groundbreaking research is essential to improve the prevention, diagnosis and treatment of these malignancies. The 5-year survival for ovarian cancer is only 50%, highlighting the need to better understand this disease. Additionally, as a referral center, Michigan Medicine is in the unique position of seeing many cancers of rare pathology allowing critical new discoveries for these tumor types.

The study will store biological samples obtained from human Gynecologic Oncology patients and provide a mechanism to link these specimens to health information for research projects to advance medical knowledge and improve patient care.

Personalized Medicine through Integration of Immune Phenotypes in Autoimmune Skin Disease

PI: J. Michelle Kahlenberg, M.D., Ph.D.

Advances in autoimmune disease understanding and treatment have progressed slowly. Some diseases, such as systemic lupus erythematosus (SLE) have seen only one approved medication for disease treatment in the past 50 years.

The longitudinal cohort of psoriasis and SLE patients will be carefully clinically phenotyped and coupled with longitudinal and targeted sample collection for mechanistic studies. The significance and innovation of this research design is that the cohort can be used for hypothesis testing, hypothesis generation, and will have banked data and samples for future technologies and research questions.

The study will utilize an innovative approach that will undertake immune phenotyping (monitoring of inflammatory responses to various stimuli) of the skin and PMBCs and integrate this data with autologous clinical, genetic, and transcriptomic data in patients with systemic and skin-associated autoimmune disease (psoriasis and lupus), and healthy controls.

Questions?

Contact us at CBR.Requests@umich.edu or (734) 647-8809 

North Campus Research Complex, Building 60-1660, 2800 Plymouth Road, Ann Arbor, MI 48105

A list of Central Biorepository contacts is available in the Personnel Directory