Other Health Conditions
Nilufer Taner, M.D., Ph.D., is studying genetic factors that protect against Alzheimer's disease (AD) in a high-risk population. She has requested whole-exome sequencing data from 89 healthy Biobank participants to compare with patients who have the genetic risk factor APOE 4/4 for AD but are cognitively normal, whom she has recruited through a separate study. Her goal is to identify strong protective genetic factors against AD, gain a better understanding of their role in AD and possibly shed light on a novel pathway that may influence this common, complex disease.
Calcium isotope determination in healthy individuals
Rafael Fonseca, M.D., has developed a new technology to measure the different forms of calcium (calcium isotopes). He has requested samples from 200 Biobank participants to establish the background variation in Vitamin D levels in healthy individuals. His goal is to use the new technology to accurately predict whether bone is being formed or destroyed.
Impact of genetic variants on hospital utilization
Paul Y. Takahashi, M.D., is researching hospital utilization. He has requested genome-wide association data from 454 Biobank participants who were patients in Rochester Employee Community Health. He is researching genetic risk factors for prediction hospitalization. His goal is to better predict those at the highest risk for hospitalization to provide services such as care management to prevent adverse outcomes.
Knowledge and preferences of Mayo Clinic Biobank participants regarding the return of genetic test results
Janet E. Olson, Ph.D., and Suzette J. Bielinski, Ph.D., are researching knowledge and preferences of Mayo Clinic Biobank participants regarding the return of genetic test results. They have requested to send a survey to 1,200 Biobank participants.
The increase in genetic studies out of the Mayo Clinic Biobank has the potential to discover incidental research findings. In some cases, these have clinical action-ability and should be offered back to participants. The goal of the survey is threefold: To assess genetic health literacy among participants; to determine preferences of mode of returning research results related to Biobank participation; and to determine preferences of mode of returning clinical genetic tests unrelated to Biobank participation.
Contribution of genetics to avascular necrosis
Rafael J. Sierra, M.D., is researching the genetics of avascular necrosis. He has requested samples from 600 Biobank participants — 150 participants with a history of avascular necrosis and 450 participants without a history of avascular necrosis, for comparison.
Avascular necrosis is the death of bone tissue due to a lack of blood supply. Also called osteonecrosis, avascular necrosis can lead to tiny breaks in the bone and the bone's eventual collapse. Dr. Sierra is researching the genetic basis of avascular necrosis. His goal is to identify genetic risk factors for avascular necrosis, allowing for preventive screening and medical treatment before the onset of disease.
Inflammatory bowel disease biomarker discovery project
Shabana F. Pasha, M.D., is researching inflammatory bowel disease, including ulcerative colitis and Crohn's disease. She has requested samples from 20 Biobank participants without a history of inflammatory bowel disease (ulcerative colitis, Crohn's disease, celiac disease or inflammatory bowel syndrome) to compare with patients who have ulcerative colitis or Crohn's disease whom she has recruited through a separate study.
Dr. Pasha is researching antibodies against microbial and human proteins in patients with inflammatory bowel disease. Her goal is to identify unique biomarker profiles of inflammatory bowel diseases that can be used to correctly diagnose ulcerative colitis and Crohn's disease.
Evaluation of germline mutations associated with risk of kidney stones (nephrolithiasis)
William E. Haley, M.D., is researching kidney stones. He has requested samples from 400 Biobank participants without a history of kidney stones to compare with patients who have kidney stones of unknown cause whom he has recruited through a separate study.
Dr. Haley is studying the frequency of genetic variants that are thought to be involved in kidney stone formation. His goal is to identify genetic variants that predispose individuals to kidney stone formation, leading to improved diagnosis, prevention and treatment options for kidney stones.
Bilirubin pathway modeling
Jean-Pierre A. Kocher, Ph.D., is researching bilirubin metabolism. Bilirubin is the breakdown product of hemoglobin in the liver and acts as a diagnostic marker for different liver and blood disorders. Excess of bilirubin has serious health implications leading to jaundice (hyperbilirubinemia) in both adults and infants.
Dr. Kocher has requested whole-exome sequencing data from 89 deceased Biobank participants. He is researching genetic variants in genes involved in the bilirubin pathway. His goal is to develop a dynamic bilirubin model and to understand how the metabolism process is affected by genetic mutations.
Genome-wide association study of primary sclerosing cholangitis
Konstantinos N. Lazaridis, M.D., is researching primary sclerosing cholangitis (PSC), a chronic liver disease. He has requested samples from 5,000 Biobank participants without a history of PSC to compare with samples from patients with PSC whom he has recruited through a separate study. He is researching genetic variation of PSC to learn more about the autoimmune nature of this disorder. His goal is to better understand the genetic causes of PSC to inform potential treatments.
Dr. Lazaridis' samples, along with those from the Biobank, will be included in a larger international collaboration to confirm the results of an earlier, smaller project.
Reference range representative of gastrointestinal microbiome
Heidi Nelson, M.D., is researching the gastrointestinal microbiome, a complex community of bacteria that live within the human gut. Increasing evidence points to the gastrointestinal microbiome as a key environmental influence for conditions leading to colon and rectal cancer. Dr. Nelson has requested stool samples from 60 Biobank participants without a history of gastrointestinal cancer to create a reference range of the normal gastrointestinal microbiome.
Dr. Nelson and her colleagues are conducting studies investigating gut bacterial communities and the metabolic and regulatory pathways that interact with the human genome and lead to cancer development. Her goal is to allow earlier detection of high-risk environmental factors and earlier prevention strategies for colon and rectal cancers.
Steven C. Ames, Ph.D., is using the Biobank to recruit up to 20 participants who may consent to participate in a new research study. Dr. Ames is recruiting participants who are smokers interested in receiving medication and counseling to quit smoking. Biobank participants who agree to be part of this study will receive smoking cessation treatment lasting three months, followed by an additional three months of follow-up. His goal is to evaluate the effectiveness of a new smoking cessation medication.
Inborn errors of metabolism
Devin Oglesbee, Ph.D., is researching inborn errors of metabolism, rare genetic disorders caused by defects in specific proteins that help break down (metabolize) parts of food. He has requested samples and whole-exome sequencing data from 40 deceased Biobank participants. He is researching genetic testing technology capabilities. His goal is to better understand whole-exome sequencing technology to improve clinical testing for rare diseases.
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 records for their physicians 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 Biobank participants 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.
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 a group of inherited disorders that cause cyst development in the kidney and can result in kidney failure (polycystic kidney disease, or PKD). 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.
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.
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.
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 patients with end-stage cancer and how caregiving 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 an increased risk of other diseases. The goal is to increase the quality of life for family caregivers.