PI: J. Michelle Kahlenberg, MD, PhD

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.

PI: Elena Stoffel, MD

The overall goal of this project is to establish a cancer genetics registry (CGR) to improve clinical care and 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.  The use of a database to organize this information will facilitate data collection and analysis for studies assessing cancer risks and the 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

The 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 the 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 three 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 and 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

PI: Chad Brenner, PhD

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 a better understanding of specific molecular and genetic alterations typical of individual tumors.

PI: Anne Schott, MD

The goal of RIOB is to create and prospectively maintain a biorepository of biologic samples, including pre-treatment tumor tissue samples and serial blood samples, linked to longitudinal clinical and radiologic data from cancer patients treated with immune checkpoint inhibitor (ICI) therapy at the University of Michigan Rogel Cancer Center. The purpose is to facilitate research that will identify biomarkers of response, toxicity, and resistance to immune checkpoint inhibitors.

PI: Kelly Harms, MD, PhD

As part of a U-M 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 a 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.

PI: Marion Hofmann Bowman, MD

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

PI: MeiLan Han, MD, MS

Michigan Early Disease Progression Cohort in COPD (MAP COPD) is a disease progression cohort study to establish (at a health system level) the best methods for identifying younger patients with early-stage COPD who are at high-risk for progression. This study will determine the prevalence of symptoms, exacerbations, and radiographic abnormality in a health system-based COPD disease progression cohort, which is the first of its kind.

PI: Santhi Ganesh, MD 

The purpose of the Michigan Medicine Dysplasia-Associated Arterial Disease Precision Health Network (DAAD) is to develop a biobank of DNA and tissue samples that will be used to study the genetics of diseases of arterial dysplasia, chiefly fibromuscular dysplasia (FMD). This group of vascular diseases is characterized by adverse vascular remodeling or arterial dysplasia and may potentially affect multiple vascular beds, including carotid, coronary, renal, aortic and peripheral vasculature. The study will also collect clinical data to correlate with the DNA and tissue studies. 

PI: Marion Hofmann Bowman, MD

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.

PI: Subramaniam Pennathur, MD

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 (link is external) 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.

The Central Biorepository manages logistics and biospecimen storage as part of the central hub for the Kidney Precision Medicine Project (KPMP).

The Kidney Precision Medicine Project is an ambitious, multi-year project funded by the NIDDK with the purpose of understanding and finding new ways to treat chronic kidney disease (CKD) and acute kidney injury (AKI).

They will accomplish this by obtaining kidney tissue from KPMP participants, analyzing it using state-of-the-art technologies, and developing next generation software tools to visualize and share the resulting data.

This will allow them to redefine kidney disease in molecular terms and identify novel targeted therapies.

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 into 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.

PI: Eloise Salmon, MD

RESOLVE is a multicenter, observational cohort study to examine the post-transplant course of patients with FSGS and MCD across the lifespan. The study is designed to collect both retrospective and prospective data, as well as biospecimens and patient-reported information. With multiple enrollment options, the study will allow investigators to define the incidence and prevalence of FSGS recurrence, describe the post-transplant course of patients with FSGS and MCD across the lifespan, and develop a biorepository to support future translational research studies to explore relevant disease mechanisms.

PI: Scott Van Epps, MD, PhD

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. The Sepsis Pathogen Identification Study team has developed a novel, ultrasensitive, polymerase chain reaction (PCR) detection system that couples standard PCR primers to gold nanorods (NR-PCR).

By coupling this ultrasensitive NR-PCR assay to pathogen-specific genetic targets, the study team intends to reduce the time to pathogen identification and antibiotic susceptibility to less than three hours. Once optimized for bacterial detection in whole blood, they 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.

PI: Michael Maile, MD

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.

PI: Chase Schuler, MD

The purpose of the FAB study is to determine biomarkers and understand the mechanisms that are related to allergic food reactions. They will recruit patients undergoing clinically indicated oral food challenges for allergic reactions and collect blood, urine, saliva, and stool samples from historically food-allergic patients before and after food administration. These samples will constitute a biobank to identify biomarkers markers of reactions and investigate the mechanisms of food anaphylaxis.  

PI: Kelly O’Shea, MD

University of Michigan Sibling Immunity Birth Study (M-SIBS) is a prospective food allergy birth cohort study. Pregnant women, the baby's biological father, the baby's sibling(s), and the baby are enrolled. The babies are observed from birth to age 3 years. Clinical assessments are conducted, survey data are collected, and biological and environmental samples are obtained on the mother, father, sibling(s), and child in the prenatal, perinatal, and postnatal periods of the child’s life.  

Study purpose: 

• To study the role and interrelationships of established and novel clinical, environmental, biological, and genetic prenatal and early-life factors in the development of allergic diseases, with an emphasis on food allergy and atopic dermatitis.
• To apply multi-omic analysis to identify mechanisms and biomarkers underlying the development of food allergy, atopic dermatitis, and their endotypes 
• To collect, process, and assay or store environmental and biological samples for current and future use in the study of allergic disease development. 
• M-SIBS has a collaborative partnership with the FluGuardians study. 

PI: Peter Higgins, MD, PhD

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.

PI: William Chey, MD

Irritable Bowel Syndrome (IBS) is a symptom-based diagnosis, that is believed to be triggered by a variety of conditions, one of which is said to be small bowel bacterial infection. Physicians use hydrogen breath testing (HBT) to assess for small bowel bacterial infection.

Rifaximin is a poorly absorbed oral antibiotic that is FDA-approved for the treatment of IBS-predominant diarrhea (IBS-D) and other conditions.

Researchers in this phase 4 study are trying to determine whether HBT can be used to identify patients with IBS-D who are more likely to respond to Rifaximin.

PI: Victoria Blanc, PhD

The Emphasis on COVID-19-Related Research Biorepository collects, processes, and archives biospecimens from both residual clinical samples and prospective participants with SARS-CoV2 infection. Recruitment and sample collection efforts have been centralized in order to minimize staff exposure, reduce burden on patients and their families, conserve PPE, and facilitate timely and equitable access to samples for researchers.

The COVID-19 Biorepository provides faculty with valuable opportunities for understanding the effects of and response to SARS-CoV2 infection, COVID-19 mechanisms of disease, and virus epidemiology, among other biomedical insights, all of which can improve outcomes for infected individuals, and public health overall. 

This umbrella protocol includes prospective collection of samples from COVID-19 positive patients, including inpatients, patients with mild disease, and convalescent patients. Sample types include plasma, serum, and buffy coat, but the sample types continue to evolve based on researcher needs. To view a current inventory of what is available view the CBR Inventory (updated weekly) and DataDirect. 

How to Access Samples

1. Submit an IRB application
    
2. After IRB approval, Principal Investigators are expected to review and/or complete:
   • Sample Request Form - complete and submit
   • Memorandum of Understanding - sign and email to [email protected]
3. Once the above documents have been received and reviewed investigators will receive communication via email regarding sample availability and pickup details. Samples will be delivered from the CBR at NCRC. CBR staff will coordinate with you for logistics details. 

The samples will be archived using LabVantage and will be stored in MCRU for the first few months. These will later be transferred to the CBR for long-term storage, and the CBR will process future requests. Notifications will go out in advance regarding the transition of the samples to the CBR.

PI: Victoria Blanc, PhD

The Emphasis on COVID-19-Related Research Biorepository collects, processes, and archives biospecimens from both residual clinical samples and prospective participants with SARS-CoV2 infection. Recruitment and sample collection efforts have been centralized in order to minimize staff exposure, reduce burden on patients and their families, conserve PPE, and facilitate timely and equitable access to samples for researchers.

The COVID-19 Biorepository provides faculty with valuable opportunities for understanding the effects of and response to SARS-CoV2 infection, COVID-19 mechanisms of disease, and virus epidemiology, among other biomedical insights, all of which can improve outcomes for infected individuals, and public health overall. 

This umbrella protocol includes collection of residual samples from patients who have been admitted to the hospital and tested for COVID-19. These samples include plasma, serum, buffy coat, and nasal swabs. Samples are dependent on availability and sample types may continue to evolve. To view a current inventory of what is available view the CBR Inventory (updated weekly) and DataDirect. 

How to Access Samples

1. Submit an IRB application
    
2. After IRB approval, Principal Investigators are expected to review and/or complete:
   • Sample Request Form - complete and submit
   • Memorandum of Understanding - sign and email to [email protected]
3. Once the above documents have been received and reviewed investigators will receive communication via email regarding sample availability and pickup details. Samples will be delivered from the CBR at NCRC. CBR staff will coordinate with you for logistics details. 

The samples will be archived using LabVantage and will be stored in MCRU for the first few months. These will later be transferred to the CBR for long-term storage, and the CBR will process future requests. Notifications will go out in advance regarding the transition of the samples to the CBR.

PI: Jason Knight, MD, PhD
Co-I: Yogen Kanthi, MD

The Phase 2 DICER trial evaluates the effects of dipyridamole, a well-tolerated medication approved by the FDA to reduce blood clotting and stroke, on D-dimer changes in patients with moderate COVID-19.  Participants consented to the trial have the additional option of consenting to and sending a subset of their samples to the Central Biorepository.

PI: Aubree Gordon, PhD, MPH

FluGuardians will enroll a cohort of infants and follow them through childhood at the University of Michigan to comprehensively study the development of immunity to influenza. The study anticipates enrolling 850 infants over a 5-year period who will be followed prospectively for influenza virus infection and vaccination. 

Children will be enrolled from the M-SIBS cohort within 6 months of birth. Samples and data will be shared between M-SIBS and FluGuardians to minimize participant burden.  
FluGuardians children will be followed prospectively for respiratory symptoms and tested for influenza upon development of symptoms. 

PI: Aubree Gordon, PhD, MPH
Co-I: Riccardo Valdez, MD

The objectives of the Immunity Against SARS-CoV-2 (IASO) study are to investigate the level and duration of protection afforded by natural infection with the coronavirus SARS-CoV-2 in health care workers and other University of Michigan employees. Further, the IASO study will examine immunological risk factors for infection outcomes and examine immune response to infection across the disease spectrum.

PI: Steven Huang, MD

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.

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.

PI: Vicki Ellingrod, PharmD
PI: Srijan Sen, MD, PhD

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.

PI: Melvin McInnis, MD

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.

PI: Amy Bohnert, PhD
PI: Srijan Sen, M.D., Ph.D.

As part of the Precision Health Initiative at the University of Michigan, this project is focused on the effects of wearable and mobile technology to both reduce mental health symptoms and predict response to clinic-based treatments.

The overall goal of this project is to reduce the burden of mental health conditions by two means:

1. Increasing capacity in the mental health care system through expanding use of mobile technology-delivered interventions.
2. Accelerating recovery by matching patients to the pharmacological, psychological, and mobile-based treatments from which they will likely derive the greatest benefit.

PI: Amy Rothberg, MD

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.

PI: Vincent Chen, MD

Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent form of chronic liver disease that is caused by fat build-up in the liver. This condition is associated with obesity and underlying metabolic syndrome and is estimated to affect 30% of adults worldwide. Over time, the fat deposition in the liver can cause inflammation, liver injury, and the development of fibrosis, nonalcoholic steatohepatitis (NASH), which can progress to cirrhosis and end-stage liver disease. Additional significant associated morbidity and mortality include the development of hepatocellular carcinoma, increased risk of cardiovascular events, and poor health-related quality of life (HRQOL).

The objective of the NAFLD Biorepository is to develop a repository of blood (plasma and serum), liver tissue, and clinical information from patients who are diagnosed with NAFLD or NASH. The samples will be stored indefinitely and utilized for future research in order to better understand clinical phenotypes of NAFLD/NASH, and to better predict disease progression, as well as guide the management of future patients.

The NAFLD Biorepository has a partnership with Precision Health/Michigan Genomics Initiative. For access to DNA and/or genotype data collected for this study, fill out a custom data request through the Data Office for Clinical and Translational Research.

PI: Benjamin Singer, MD, PhD

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.

PI: Jean Siedel, DO

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.

PI: Amy Rothberg

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.

PI: Elizabeth Langen

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 postpartum 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.

PI: Patrice E. Fort, PhD

The Mary Tyler Moore Ocular Biorepository & Resource Center (MTM-BRC) is built on a biobank of human ocular tissue from postmortem donors. Each set of eyes has been characterized, processed, molecularly analyzed, and preserved by the study team. The purpose of the MTM-BRC is to establish a large set of highly characterized ocular tissues to allow the research community to deeply characterize the pathophysiological mechanisms of human diabetic retinal disease (DRD). The study aims to help better understand the disease by identifying novel biomarkers and treatments collaboratively and collectively for DRD through the use of the tissues and data collected including detailed histologic and imaging characterization as well as multi-OMIC analyses. To do so, the multi-level data collected on the ocular tissues are complemented by important clinical information for each donor case.

The MTM-BRC is an integral part of the Mary Tyler Moore Vision Initiative with a goal to end vision loss caused by diabetes.

MTM-BRC is currently enrolling patients with Type 1 diabetes and Type 2 diabetes (diagnosed diabetic retinopathy), and will soon start enrolling matching non-diabetic controls.

PI: Shilpa Kodati, MBBS

The goal of the Uveitis Biobank study is to integrate clinical data and biospecimens collected to identify novel genetic factors and biomarkers associated with pathogenesis, progression, and response to treatment for various ocular inflammatory diseases.

PI: Abhijit Naik, MD, MPH, FASN

The goal of the Immune Precision in Solid Organ Transplant (ImPrec) study is to develop precise and effective immune suppression strategies for solid organ transplant recipients that would minimize rejection and infections post-transplant. They plan to longitudinally collect biological samples including transplant tissue and medical information to enable sophisticated immune phenotyping among organ recipients.

They are storing blood, cells and biopsy tissue from patients who are receiving or have received a transplanted kidney, liver, lung or heart along with relevant medical record information.

PI: Abhijit S. Naik, MD, MPH, FASN

The purpose of the Michigan Kidney Transplant (MiKiT) Biorepository is to provide a mechanism to store data and specimens to support future research in kidney transplantation and transplant immunology. Patients presenting for surveillance or indication biopsies are approached to participate in the MiKiT biorepository study.

Biospecimens are collected during routine peri-biopsy clinical care in the procedure areas to minimize any inconvenience to the patient. Blood and urine are collected before the biopsy and processed locally for patients who consent. The tissue is also collected for evaluation using light microscopy, electron, and immunofluorescence microscopy. A single core of tissue is also stored for future molecular analysis. Biospecimens are processed and stored with the help of the Central Biorepository.

PI: Chad Brummett, MD

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) in the Analgesic Outcomes Study. 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 about 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 the 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.

PI: Karl Desch, MD

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.

PI: Vicki Ellingrod, PharmD
PI: Srijan Sen, MD, PhD

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.

PI: Chad Brummett, MD

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 to the Central Biorepository for processing, and DNA is isolated from the biospecimens. A portion of that DNA is set aside for genotyping.

PI: Meng Tan, MD

MGI - Metabolism and Endocrinology aims 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.

PI: Peter Todd, MD, PhD

In collaboration with the Michigan Genomics Initiative (MGI), Michigan Neurological Disorders Precision Health Objective (MIND-PRO) proposes to recruit patients seen in the Department of Neurology outpatient clinics. This biorepository will accelerate discoveries about the molecular basis of many traits in neurologic disease. It is hoped that these discoveries will lead to improved understanding of disease mechanisms, development of better diagnostics and biomarkers, and eventually improvements in clinical treatment strategies.

PI: Sachin Kheterpal, MD, MBA

MiPACT (Michigan Predictive Activity & Clinical Trajectories) is 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 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.

PI: J. Michelle Kahlenberg, MD, PhD

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.

PI: Bhramar Mukherjee, PhD

The MY PART study's aim is to increase the diversity of individuals in the MGI study, with respect to sex, race, ethnicity, health, location, and lifestyle habits.  The MGI project team will implement procedures and technologies that will facilitate further outreach to develop a fully representative research registry.  This registry/repository will be used as a resource for researchers within and outside of the University of Michigan.