Projects

Cancer

Renal cell cancer

Alexander S. 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 with 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.

Chronic lymphocytic leukemia

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 bloodstream. 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 with a population of CLL patients who 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.

Hypothyroidism and cholangiocarcinoma

Lewis R. Roberts, M.B., Ch.B., Ph.D., is researching whether low levels of thyroid hormones (hypothyroidism) 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.

Cholangiocarcinoma

Lewis R. Roberts, M.B., Ch.B., Ph.D., 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

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.

Multiple myeloma

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.

Glioma

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.

Chronic lymphocytic leukemia

Susan L. Slager, Ph.D., is researching genetic risk factors for chronic lymphocytic leukemia (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.

Breast cancer

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.

Dr. Couch 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.

Colon cancer

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

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.

Familial pancreatic cancer genes in minority patients

Robert R. McWilliams, M.D., is researching genes proven to cause elevated risk of pancreatic cancer in some families. There is very little known about the frequency of gene changes (mutations) 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.

Lymphoma biomarkers

Andrew L. 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 with patients with lymphoma who he has recruited through a separate study.

His goal is to identify new biomarkers that might help with the detection of T-cell lymphoma as well as identify potential targets for therapy for this cancer through new technologies.

Genetic variants and prostate cancer

Stephen N. Thibodeau, Ph.D., is researching a new genetic variation that was recently reported to increase the risk of 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 researchers 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 J. Winterhoff, M.D., and Sean C. 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 who 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.

Chronic obstructive pulmonary disease and lung cancer

Ping Yang, M.D., Ph.D., is researching lung cancer and chronic obstructive pulmonary disease (COPD). She has requested samples from 1,720 Biobank participants who do not have lung cancer. Dr. Yang will compare the genetics of these individuals with individuals who have COPD, lung cancer or both whom she has recruited through a separate study.

She is trying to identify the genetic changes that may contribute to the development or risk of development of COPD and lung cancer so that this information could be used for at-risk patients in the future.

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Cardiovascular disease

Genetic contributors to heart failure

Suzette J. 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.

Peripheral artery disease

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.

Dr. Kullo is specifically studying genetic variations that he's identified through another study. His goal is to see which of these genetic factors may increase a person's risk of developing PAD so that they may be used to help predict or manage those at high risk.

Cardiorespiratory fitness

Iftikhar J. Kullo, M.D., 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.

Sudden cardiac death

Suzette J. Bielinski, Ph.D., is researching causes of sudden cardiac death in patients who survive a heart attack (myocardial infarction). After 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 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.

Genetic variation and cardiovascular response

John H. Eisenach, M.D., is researching the effects of certain genetic alterations in the beta-2-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 beta-2-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 V. 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.

Genetic evaluation of cardiovascular disease risk

Iftikhar J. Kullo, M.D., is researching communication of genetic risk of coronary heart disease and how it affects participant motivation to make lifestyle changes such as increased exercise and decreased dietary fat intake. He has requested DNA samples from 1,300 Biobank participants who do not have a history of coronary artery disease, peripheral arterial disease, abdominal aortic aneurysm and statin use.

Genetic testing of coronary heart disease risk will be performed and communicated to some of the study participants, and participants will be assessed for motivation to make lifestyle changes. This study is also a pilot investigation about including genetic information in participants' electronic medical record.

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Diabetes

Gene alterations and diabetes risk

Adrian Vella, M.D., is researching the effects of the TCF7L2 gene on type 2 diabetes. Some studies have indicated that certain genetic changes within the TCF7L2 gene cause slight differences in risk of 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 determine the role the TCF7L2 gene has in development of diabetes and potentially help target therapies for diabetes in the future.

Effects of dietary supplementation on hepatic insulin action and glucose tolerance in prediabetes

Rita Basu, M.D., is researching the effects of dietary supplementation on liver fat content and glucose metabolism in people with prediabetes. Seventy million people have either prediabetes or type 2 diabetes. People with prediabetes have an up to 50 percent chance of developing diabetes within five to 10 years.

Dr. Basu is recruiting Biobank participants with a history of impaired fasting glucose or hemoglobin A1C levels within the prediabetic range for a 12-week feeding study. In this study, subjects will be assigned to one of three diets — a diet high in monounsaturated fat, a diet high in fiber or a standard diet.

Dr. Basu's research group wants to determine whether dietary changes reduce liver fat, improve liver insulin action and help prevent progression to type 2 diabetes. The group also plans to quantify liver fat using liver scan software that will provide further insights into the type and kind of liver fat. This study will provide important preliminary data for lifestyle interventions in people with prediabetes.

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Mental health

Genetics in major depressive disorder and medication response

Richard Weinshilboum, M.D., and colleagues are studying the effects of certain medications — citalopram (Celexa) and escitalopram (Lexapro) — 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.

Dr. Weinshilboum's study team will see if patients with major depressive disorder who have been administered an antidepressant show a treatment response that is influenced by the underlying individual genetic makeup. 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.

Genomic predictors of bipolar disorder

Joanna M. Biernacka, Ph.D., is researching bipolar disorder. She has requested samples from up to 1,000 Biobank participants without a history of bipolar disorder or depression to compare with 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.

Optimizing treatment for depression

Yuan 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 medication response of the cells from the healthy individuals with the cells 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.

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Autoimmune disorders

Impact of cytomegalovirus on rheumatoid arthritis: A pilot study

John M. Davis III, M.D., is researching rheumatoid arthritis. He is trying to determine whether history of exposure to cytomegalovirus, a common virus with few symptoms, has any bearing on development of rheumatoid arthritis. He has requested samples from 100 Biobank participants for his study, some of whom have rheumatoid arthritis (cases) and some of whom do not (controls).

Detection of bullous pemphigoid

Michael J. 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 called 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 with 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.

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Hypertension

Kidney disease in people with hypertension

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.

Mechanism of a blood pressure medication and its effect on the intestine

Joseph A. Murray, M.D., has identified in previous research that olmesartan (Benicar), a commonly prescribed blood pressure medication, causes severe gastrointestinal issues such as nausea, vomiting, diarrhea, weight loss and electrolyte abnormalities in a small percentage of individuals. Interestingly, these signs and symptoms are also common among those who have celiac disease.

Mayo Clinic is conducting a study to explore why this is happening to some people on this medication and why the symptoms are so similar to celiac disease, despite a demonstrated lack of gluten sensitivity in these individuals. Although the number of individuals who take olmesartan is low, the symptoms that some people face with this medication may be severe if left untreated.

Therefore, Dr. Murray has asked for up to 200 Biobank blood samples from participants for his study, some of whom are on this medication (cases) and some of whom are not (controls). This will help determine more about the effects of this medication in patients, and if there are genetic markers that could identify these individuals who have significant gastrointestinal issues from this drug before they develop the symptoms.

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Other health conditions

Right drug, right dose, right time (the RIGHT protocol)

Suzette J. 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

Paul Y. Takahashi, M.D., is studying the medical record information and questionnaire data from all the Biobank participants so far to determine the number of hospitalizations and emergency room visits within a six-month time frame 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 Biobank participants' overall health as a cohort for future studies and in hopes of improving clinical practice.

Whole-exome sequencing

Stephen N. 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 this 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 compared with information obtained from patients with a variety of different diseases to better understand the differences between health and disease. For clinical laboratories, data from this study will be used to help build the next generation of tests that can be used by physicians worldwide to diagnose different types of genetic disorders.

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.

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 de-identified genetic test results generated from whole-exome sequencing for their review.

Polycystic kidney disease

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 clots

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.

Preeclampsia

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.

Microvesicles

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.

Family caregiver burden in home hospice

Judith S. 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 of disease. She has requested samples from 30 healthy Biobank participants who have no history of disease. She will compare these with 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 of other diseases. The goal is to increase the quality of life for family caregivers.

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