The research focus of Joanna M. Biernacka, Ph.D., is in the area of genetics of complex diseases, particularly bipolar disorder and addiction, as well as psychiatric pharmacogenomics.
- Psychiatric genomics and pharmacogenomics. As the director of Mayo's Psychiatric Genomics and Pharmacogenomics (PGaP) Program, Dr. Biernacka provides support for investigators in the design and analysis for a variety of psychiatric genomics studies.
- Bipolar disorder. Along with Mark A. Frye, M.D., Dr. Biernacka is a co-principal investigator of Mayo Clinic's Bipolar Disorder Biobank, which provides a rich resource for research into the complex causes of bipolar disorder and biomarkers of disease susceptibility and treatment response. A key approach that the group uses to uncover genetic risk factors for bipolar disorder is to focus on more narrowly defined subtypes of the disorder, which are more likely to be influenced by a smaller set of genetic factors.
- Alcohol use disorders. As the statistical geneticist in the Samuel C. Johnson Genomics of Addiction Program and an investigator in the National Institute on Alcohol Abuse and Alcoholism-funded Mayo Clinic Center for Individualized Treatment of Alcohol Dependence (CITA), Dr. Biernacka assists her collaborators within the programs with designing studies and analyzing the resulting data. These studies are aimed at elucidating the complex relationships between genetic variation and traits such as increased risk of developing alcohol use disorders or increased likelihood of responding to a specific treatment.
- Pharmacogenomics of antidepressants. Dr. Biernacka provides statistical genetics support for a research program in pharmacogenomics of response to treatment of major depressive disorder with selective serotonin reuptake inhibitors (SSRIs). These studies include data from the Mayo Pharmacogenomic Research Network Antidepressant Medication Pharmacogenomics Study (PGRN-AMPS) and the International SSRI Pharmacogenomics Consortium (ISPC).
- Neurology. Dr. Biernacka has also worked on a study of the molecular epidemiology of Parkinson's disease, which aimed to elucidate the genetic and environmental risk factors — and their interactions — for the disease's development and progression. In addition, she has recently begun collaborating on genetic studies of frontotemporal dementia and early-onset Alzheimer's disease, where genome-wide association studies and whole-genome sequencing are being used to identify genetic risk factors for the diseases.
- Statistical genetics methods development. As the types of analyses described above require the application of advanced statistical techniques, Dr. Biernacka also works on the development of novel statistical methods for the analysis of genetic data. Her methods development research is currently focused primarily on gene-set analysis, methods for detection of gene-gene interactions, and risk prediction, with application to bipolar disorder, addiction and other neuropsychiatric traits.
Significance to patient care
An understanding of the genetic causes of neuropsychiatric diseases will enable improved diagnosis and prevention, as well as development of novel therapies. Furthermore, knowledge of the genomic factors and other biomarkers that play a role in response to pharmacological treatment of psychiatric illness will enable a more personalized strategy for treating these complex disorders, as it will help clinicians select the most appropriate treatment for each patient.