Studies Using the Biobank
Mayo Clinic Biobank began recruitment on April 1, 2009, and had an initial goal of recruiting 20,000 participants. This goal was reached in June 2011.
These participants' samples and health information are available to researchers for many types of studies. Listed below are studies that are currently using samples from the Biobank. This information will be updated periodically so that participants can learn more about how the Biobank is helping to advance clinical research at Mayo Clinic.
Right drug, right dose, right time (the RIGHT protocol) study
Suzette Bielinski, Ph.D., and colleagues are utilizing Biobank resources to recruit 2,000 participants who may consent to a new blood sample for use in a new project. For Biobank participants who agree to be part of this research study, a new blood sample will be drawn and genetic material will be extracted. The genetic material will be examined for variants in genes known to be important in how drugs are absorbed, activated and metabolized. Knowledge of these genetic variants may help physicians better prescribe the right drug at the right dose to their patients. This genetic information will be made available to the patients via the patient portal and in their electronic medical record for their physician whenever a new drug is prescribed. The purpose of this study is to see if this reduces the problems related to some medications and improves medical outcomes.
Hospitalizations and emergency room visits study
Paul Takahashi, M.D., is studying the medical record information and questionnaire data from all the Biobank participants thus far to determine the number of hospitalizations and emergency room visits within a six-month timeframe after enrollment in the Biobank. His goal is to determine the relationship between the health status of individuals and the number and timing of hospitalizations and emergency room visits. This will help to better understand the Biobank participants overall health as a cohort for future studies and in hopes to improve clinical practice.
Renal cell cancer study
Alex Parker, Ph.D., is researching renal cell carcinoma (a type of kidney cancer). He has requested samples and data from 1,000 Biobank participants who report no history of cancer to compare to kidney cancer patients he has recruited from a separate study. Dr. Parker’s goal is to examine the molecular causes that link smoking, obesity and other risk factors to renal cell cancer development. This study has the potential to enhance knowledge of causes for renal cell cancer and should help inform new prevention and treatment strategies.
Genetic contributors to heart failure study
Suzette Bielinski, Ph.D., is researching heart failure. Heart failure is a complex syndrome characterized by the inability of the heart to supply sufficient blood flow to the body. Understanding the cause of heart failure is challenging in that at least two distinct types exist that differ in their frequency, presentation and outcomes. Because of this, Dr. Bielinski and colleagues have developed a set of rules to be followed to identify cases of heart failure using data from the electronic medical record. She will be reviewing medical record information from Biobank participants to determine whether this new set of rules may be of benefit in better defining heart failure patients for future work.
Genetics in major depressive disorder and medication response study
Richard Weinshilboum, M.D., and colleagues are studying the effects of certain medications (Citalopram and Escitalopram) used to treat individuals who have major depressive disorder. The goal of this study is to understand the underlying genetics behind the treatment response for these drugs in patients diagnosed with major depressive disorder. His study team will see if patients suffering from major depressive disorder who have been administered an antidepressant show a treatment response that is influenced by the underlying individual genetic make-up. Therefore, his group is working to develop a medical records set of rules to identify such individuals. The hope is that this would translate to better understanding the genetic factors that may play a role in metabolizing these drugs.
Chronic lymphocytic leukemia study
Asish K. Ghosh, Ph.D., is researching the relationship of microvesicles to Chronic lymphocytic leukemia (CLL) development. Microvesicles come from parts of the cell that make up different tissues in the body. Once formed, these vesicles can be shed into the blood stream. There appear to be elevated levels of microvesicles in CLL patients. Therefore, Dr. Ghosh will study 100 healthy Biobank participants who have no known history of chronic disease to compare to a population of CLL patients that have been recruited through a separate study. He hopes to learn more about the association of microvesicles in relation to CLL to see if these may be predictors of disease or play a role in therapy in the future.
Whole exome sequencing study
Stephen Thibodeau, Ph.D., and colleagues requested samples from 40 deceased Biobank participants (20 male and 20 female) without a history of any particular disease. The goal of this project was to perform DNA sequence analysis on most known genes (whole exome analysis) for these 40 Biobank participants. The results are helping both research and clinical laboratories to compare genetic differences between health and diseases. In addition, Dr. Thibodeau has expanded the whole exome sequencing to include an additional 50 samples from deceased Biobank participants. Having additional samples with this information will help develop systems for managing these types of data and for developing clinical tests for future patients.
Hypothyroidism and cholangiocarcinoma study
Lewis R. Roberts, M.B., Ch.B., Ph.D., is researching whether hypothyroidism — low levels of thyroid hormones — is linked to a person's risk of developing cholangiocarcinoma, a specific type of liver cancer. He has asked to review medical information on 600 Biobank participants without a history of any cancer to compare with patients — recruited through a separate study — with cholangiocarcinoma. Dr. Roberts will review lab results and imaging studies that may help to determine how common hypothyroidism and liver disease may be in individuals without liver cancer. Through this study, Dr. Roberts hopes to determine whether hypothyroidism may be a risk factor for the development of cholangiocarcinoma.
Dr. Roberts has submitted a second request to the Biobank about cholangiocarcinoma. In this second project, he's requested samples from 400 Biobank participants without a history of any type of cancer to compare with patients — recruited through another study — who have cholangiocarcinoma. Dr. Roberts is researching whether there are genetic variants that might predict which individuals are at risk of developing cholangiocarcinoma.
Kidney cancer study
Eugene D. Kwon, M.D., is researching immune responses to kidney (renal) cancer. He has requested samples from 172 Biobank participants without a history of any type of cancer or known immune disorder. He will compare this group with patients — recruited through a separate study — who have kidney cancer. Dr. Kwon is studying a particular immune marker to determine whether this marker can be detected in the blood of patients with and without kidney cancer. His goal is to better understand if this specific marker is detectable in both populations and whether it might be used in the future to help determine the prognosis of kidney cancer in affected individuals.
Polycystic kidney disease study
Peter C. Harris, Ph.D., is studying polycystic kidney disease (PKD), a group of inherited disorders that cause cyst development in the kidney and can result in kidney failure. He has requested samples from 250 Biobank participants without a history of kidney disease to compare with patients — recruited through another study — who have PKD. Dr. Harris' goal is to better describe genetic changes found in the PKD genes, which may help predict the disease's course and progression in people with it.
Blood clot study
John A. Heit, M.D., is researching genetic factors that are associated with and may increase a person's risk of blood clot formation (venous thromboembolism). He has requested samples from about 50 Biobank participants with a history of a blood clot, which he'll use to augment the many additional patients with blood clots that he's recruited through another study. Dr. Heit has also asked for approximately 325 Biobank participants without a history of a blood clot to compare with his patients who've had a clot. Dr. Heit's goal is to identify the genetic factors associated with blood clots, as well as people who are at high risk of them so that health care professionals can take better preventive and treatment measures in the future.
Peripheral artery disease study
Iftikhar J. Kullo, M.D., is researching genetic variants that may increase an individual's risk of peripheral artery disease (PAD), a common circulatory problem in which narrowed arteries reduce blood flow to the arms and legs. He has requested samples from 1,000 Biobank participants without a history of PAD to compare with patients — recruited through a separate study — who have the disease. He's specifically studying genetic variations that he's identified through another study. Dr. Kullo's goal is to see which of these genetic factors may increase a person's risk of developing PAD so that it may be used to help predict or manage those at high risk.
Cardiorespiratory fitness study
Dr. Kullo is also researching genetic risk factors involved with cardiorespiratory fitness, a measure of the ability to perform aerobic exercise. Impairment of cardiorespiratory fitness is associated with an increased risk of cardiovascular disease, type 2 diabetes and metabolic syndrome. He has requested samples from 2,000 Biobank participants who have undergone a special type of exercise testing and is attempting to identify specific genes or DNA sequences that influence cardiorespiratory fitness. His goal is to improve the design of new drugs and develop new treatment strategies relevant to aging, insulin resistance and cardiovascular outcomes.
Multiple myeloma study
Celine M. Vachon, Ph.D., is studying the genetics of multiple myeloma. She has requested samples from 1,000 Biobank participants without a history of multiple myeloma. Dr. Vachon will genotype these samples for a certain genetic variation and compare the results with those from patients from a separate study that have this disease. She is attempting to identify specific DNA sequences and genes that increase a person's risk of the development of multiple myeloma. Her goal is to better understand the origin of this cancer.
Daniel Honore Lachance, M.D., Robert B. Jenkins, M.D., Ph.D., and colleagues are studying the genetics of glioma, one type of brain cancer. They have requested samples from 500 Biobank participants without a history of glioma and will compare test results from these samples with those from patients newly diagnosed with glioma. They are attempting to identify specific genes or DNA sequences that predispose individuals to the development of this particular form of brain cancer. Their goal is to understand the role of genetic susceptibility among glioma patients who do not have a family history of this disease.
Vesna D. Garovic, M.D., is testing for the presence of genetic risk factors for preeclampsia, a major source of maternal and fetal morbidity and mortality worldwide. She has requested samples from 14 Biobank participants who have never been pregnant and have no history of hypertension. She is researching whether a specific type of DNA modification (methylation) is present and changes over the course of pregnancy and whether these modifications correlate with the development of preeclampsia. Her goal is to better understand the cause of preeclampsia and ultimately improve treatment for these women.
Breast cancer study
Fergus J. Couch, Ph.D., is researching genetic risk factors for breast cancer. He has requested samples from 1,000 Biobank participants without a history of breast cancer to compare with patients — recruited through a separate study — who have had breast cancer. He is looking for subtle changes in the DNA sequence that might prove to increase breast cancer risk. He is also working to identify genes other than those currently known (BRCA1 and BRCA2) that may increase a person's risk of developing breast cancer.
Suzette J. Bielinski, Ph.D., is researching causes of sudden cardiac death in patients who survive a heart attack (myocardial infarction). Following a heart attack, nerves within the heart rewire as part of the healing process, and this may increase the risk of sudden cardiac death in some patients. Proteins found in the blood may provide clues as to the extent of nerve healing and therefore may be useful in predicting which heart attack patients may be at increased risk. To investigate these proteins, Dr. Bielinski has requested samples from 200 Biobank participants without a history of a heart attack to compare with patients — recruited through a separate study — who have had a heart attack.
Chronic lymphocytic leukemia (CLL) study
Susan L. Slager, Ph.D., is researching genetic risk factors for CLL. She has requested samples from 500 Biobank participants without a history of CLL to compare with patients — recruited through a separate study — who have had CLL. She is looking to confirm subtle changes in the DNA sequence, which she has identified in previous studies, that may prove to be risk factors for developing CLL.
Colon cancer study
Lisa A. Boardman, M.D., is studying a possible risk factor for colon cancer. She has requested samples from 500 Biobank participants without a history of colon cancer to compare with patients — recruited through a separate study — who have had colon cancer. She is studying whether telomere length is correlated to colon cancer risk. Telomeres are located at the end of chromosomes and are known to shorten with age. Chromosomes are the structures in which DNA (genes) is packaged; humans have 46 total chromosomes and inherit half from each parent. Dr. Boardman is also trying to determine if the genes that are involved in telomere shortening over one's lifetime might also play a role in a person's risk of colon cancer.
Lung cancer study
Mariza de Andrade, Ph.D., is researching genetic causes for familial lung cancer. She has requested samples from 150 Biobank participants without a personal or family history of lung cancer. She'll compare these samples with those from patients — recruited through another study — who have lung cancer. She hopes to identify specific genes that might increase a person's risk of developing lung cancer.
Lilach O. Lerman, M.D., Ph.D., is researching kidney disease in people with high blood pressure (hypertension). She has requested samples from 50 Biobank participants without a history of hypertension to compare with those from patients — recruited through a separate study — with hypertension. For a given patient, she would like to know how kidney disease is affected by the presence of hypertension.
Muthuvel Jayachandran, Ph.D., is researching the presence of microvesicles in blood and how they relate to disease. Microvesicles come from parts of the cell that make up different tissues in the body. Once formed, these vesicles can be shed into the bloodstream. However, not much is known about what these vesicles are made of or how many of them are in a healthy individual. Once this is known, it will be possible to look at patients with disease to see if the number and makeup of these microvesicles are different. The goal is to see if these blood particles can be used to detect the presence of disease very early — for example, before symptoms develop — or if they can be used to predict whether a patient will develop disease later in life. To study microvesicles, Dr. Jayachandran is requesting samples from 50 to 100 healthy Biobank participants who have no known history of chronic disease.
Genomic Predictors of Bipolar Disorder
Joanna Biernacka, Ph.D., is researching bipolar disorder. She has requested samples from up to 1000 Biobank participants without a history of bipolar disorder or depression to compare to patients who have bipolar disorder who she has recruited through a separate study. She is trying to identify genetic contributors to bipolar disorder. Her goal is to use this information to develop a prediction model for bipolar disorder, which may be used to determine individuals at risk of developing this condition in the future.
Familial Pancreatic Cancer Genes in Minority Patients
Robert McWilliams, M.D., is researching genes proven to cause elevated risks for pancreatic cancer in some families. There is very little known about the frequency of mutations (gene changes) in certain genes in minority populations or the meaning of these gene changes in such populations. Therefore, Dr. McWilliams has requested up to 100 samples from Biobank participants to add to the group of individuals who he has recruited through a separate study. He is trying to determine if mutations in certain genes are more common in these ethnicities, and whether this plays a role in cancer development.
Whole Exome Sequencing Project
Stephen Thibodeau, Ph.D., has requested samples from 40 deceased Biobank participants (20 male and 20 female) without a history of any particular disease. The goal of his project is to perform DNA sequence analysis on all known genes (whole exome analysis) for these 40 Biobank participants. The results of the whole exome analysis will be used to help both research and clinical laboratories. For research laboratories, data from this study will be used to compare to information obtained from patients with a variety of different diseases to better understand the differences between health and disease. For the clinical laboratory, data from this study will be used to help build the next generation of tests that can be used by physicians world wide to diagnose different types of genetic disorders.
Andrew Feldman, M.D., is researching new biomarkers and possible targets for therapy for T-cell Lymphoma. He has requested samples from 50 Biobank participants without a history of any type of cancer to compare to patients who have lymphoma who he has recruited through a separate study. His goal is to identify new biomarkers that might help with detection of T-cell lymphoma as well as identify potential targets for therapy for this cancer through new technologies.
Detection of Bullous Pemphigoid (an autoimmune skin disease)
Michael Camilleri, M.D., is working to develop a new test to detect a specific antibody known as anti-bullous pemphigoid IgE to detect a skin disease known as bullous pemphigoid. This skin disorder is an autoimmune condition most common in the elderly. It is characterized by intense itching and burning of the skin followed by blistering. He has requested serum samples from 50 Biobank participants without a history of skin disease, other immune disease or steroid treatments to compare to patients who have bullous pemphigoid who he has recruited through a separate study. His goal is to develop a new test that could be used clinically in the future to identify this disease and may help to guide treatment.
Gene Alterations and Diabetes Risk
Adrian Vella, M.D., is researching the effects of the TCF7L2 gene on Type II diabetes. Some studies have indicated that certain genetic changes within the TCF7L2 gene cause slight differences in risk for diabetes. He has requested samples from 1,000 Biobank participants without a history of diabetes to determine whether they have higher risk or lower risk factors for diabetes. Those with particular genetic variations may then be offered an opportunity to participate in further research studies with Dr. Vella’s group to help to determine the role the TCF7L2 gene has in development of diabetes and potentially help to target therapies for diabetes in the future.
Genetic Variation and Cardiovascular Response
John Eisenach, M.D., is researching the effects of certain genetic alterations in the ß2 — Adrenergic Receptor gene and how these changes influence heart and blood vessel function under controlled levels of sodium in the diet. He has requested samples from 1,000 young Biobank participants without a history of heart disease or diabetes to determine whether they have specific genetic alterations in the ß2 — Adrenergic Receptor gene. Those with these genetic changes may then be offered an opportunity to participate in further research studies with Dr. Eisenach’s group to help determine the role this gene plays in cardiovascular disease.
New Enzyme and its Role in Heart Failure
Frank Brozovich, M.D., Ph.D., is studying a recently discovered enzyme thought to play a role in heart failure. He has requested 400 Biobank samples: 200 from participants believed to have heart failure and 200 from participants with no evidence of heart failure. Dr. Brozovich will compare blood levels of the enzyme renalase in these groups. His aim is to determine whether renalase levels can help predict outcomes of heart failure, and ultimately, to look for new drugs to treat heart disease.
Optimizing Treatment for Depression
Juan Ji, Ph.D., would like to enroll a set of Biobank participants with no personal or family history of any mental health disorders into her study. Dr. Ji's study would compare these healthy new participants to her current study participants with mental health disorders. Her research study requires obtaining a skin biopsy from her participants to make special cells that act like brain cells in the laboratory. The extension of her current study would allow her to compare response to medication of the cells from healthy individuals to those from patients with mental health disorders. Her goal is to gain a better understanding of how to determine which individuals will respond to these medications and then to use that information to match patients with the optimal drugs.
Genetic Variants and Prostate Cancer
Stephen Thibodeau, Ph.D., is researching a new genetic variation that was recently reported to increase the risk for hereditary prostate cancer. Dr. Thibodeau has requested samples from all male Biobank participants to determine how common this genetic variation may be. Learning how common or uncommon this variation is in men will help to better understand its importance for men with prostate cancer and evaluate the risk this particular genetic variation may pose for the development of prostate cancer.
Genetic Association in Endometrial Cancer
Boris Winterhoff, M.D. and Sean Dowdy, M.D., are researching genetic variants that may be associated with the development of endometrial cancer. They have requested samples from 300 Biobank participants without history of endometrial cancer. The researchers can compare these samples to patients with endometrial cancer. These patients have already been recruited through a separate study. Drs. Winterhoff and Dowdy are trying to determine whether certain genetic variations increase the risk of endometrial cancer. This study may lead to better diagnostic and screening tools, and ultimately, longer patient survival.
Whole Exome Sequencing
In our last issue of BioNews, we noted a study initiated by Stephen Thibodeau, Ph.D. In this study, Dr. Thibodeau and his colleagues had requested samples from 40 deceased Biobank participants (20 male and 20 female) without a history of any particular disease. The goal of his project was to perform DNA sequence analysis on all known genes (whole exome analysis) for these 40 Biobank participants. The results of the whole exome analysis will be used to help both research and clinical laboratories to compare genetic differences between health and disease. This genetic information has been generated, and 17 investigators already have requested access to the information. These investigators want to study this genetic information to better understand what the information looks like and how it may relate to the specific diseases they are studying. No additional samples were given to these investigators. They only received deidentified genetic test results generated from whole exome sequencing for their review.
Family Caregiver Burden in Home Hospice
Judith Kaur, M.D., is researching family caregivers of end-of-life cancer patients and how this affects the caregiver's immune system, quality of life and risk for disease. She has requested samples from 30 healthy Biobank participants who have no history of disease. She will compare these to individuals, recruited through a separate study, who have been hospice caregivers. Dr. Kaur is researching whether family caregivers in home hospice may experience stress-induced immune issues. She will then determine whether other lifestyle factors, such as exercise, social support, quality of life, herbal supplements or known anti-inflammatory agents, can help to decrease immune responses for these caregivers. She also would like to determine whether caretakers who experience immune responses have increased risk for other diseases. The goal is to increase the quality of life for family caregivers.
Read about the Mayo Clinic Biobank Access Committee.
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