Genome-wide association study of bipolar disorder
Joanna M. Biernacka, Ph.D., is researching the genetics of bipolar disorder. She has requested samples from 850 Biobank participants without a history of bipolar disorder to compare to patients from the Mayo Clinic Bipolar Disorder Biobank. Bipolar disorder is a highly heritable complex genetic disease. Her goal is to identify genes associated with bipolar disorder. Identifying genetic risk factors for bipolar disorder will improve the understanding of causes of the disease and enable individual risk prediction.
Replication study of genetic factors underlying bipolar disorder
Mark A. Frye, M.D., and Joanna M. Biernacka, Ph.D., are researching genetic factors of bipolar disorder. They have requested samples from 1,000 Biobank participants without a history of bipolar disorder to compare with patients who have bipolar disorder that they have recruited through a separate study. This study is part of a collaborative effort between Mayo Clinic and the Karolinska Institutet in Sweden.
Drs. Frye and Biernacka are researching expression of the core biological clock (circadian) gene CRY2 and the ion channel gene P2RX7. Preliminary results show that variations in these genes are associated with rapid cycling between mania and depression in bipolar disorder. The doctors' goal is to replicate the genetic associations with rapid cycling in bipolar disorder. They are trying to further understand the underlying biological causes of bipolar disorder and help identify individuals at risk of developing bipolar disorder.
Bipolar disorder and addiction
Doo-Sup Choi, Ph.D., and Marin Veldic, M.D., are researching bipolar disorder and addiction. They have requested samples from 242 Biobank participants without a history of bipolar disorder to compare with patients who have bipolar disorder (with or without a co-occurring addiction disorder) that they have also requested from the Bipolar Biobank.
They are researching DNA modification (epigenetic methylation) of candidate genes in patients with bipolar disorder. They believe the levels of DNA modification vary in those with bipolar disorder and different co-occurring conditions such as alcohol use disorders, tobacco dependence and binge eating. Their goal is to better understand the relationship between these disorders and DNA modification.
Dementia gene identification
Rosa Rademakers, Ph.D., is researching frontotemporal dementia (FTD). She has requested whole-exome sequencing data from 89 Biobank participants without a history of FTD to compare with whole-exome sequencing data from patients with FTD whom she has recruited through a separate study.
Dr. Rademakers is researching the genetics of FTD, a specific type of dementia that primarily affects the frontal and temporal lobes of the brain — the areas generally associated with personality, behavior and language. In FTD, portions of these lobes atrophy or shrink. Signs and symptoms vary, depending upon the portion of the brain affected. Some people with FTD undergo dramatic changes in their personalities and become socially inappropriate, impulsive or emotionally indifferent; while others lose the ability to use language. Dr. Rademakers has identified several genetic variants, and her goal is to study their association with FTD.
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 of 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 whom 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 with 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.