Researcher | Research Overview
A biomarker is an objective sign that indicates the presence of disease arising from pathogenic biologic processes; this is distinct from a symptom, which is an indicator of illness perceived by a patient. Current methods of diagnosis and treatment for psychiatric disorders are entirely symptom-based, making for mediocre diagnostic reliability and treatment. Identifying biomarkers for psychiatric disorders will take us a step closer to developing a mechanistic understanding of their neural bases, allowing the development of the types of precise clinical diagnoses available in other medical specialties.
Dr. Knowles seeks to identify and validate blood-based biomarkers for psychiatric disorders. Promising leads for potential biomarkers in psychiatry exist, in particular genetic variation and also peripherally measured lipids and related inflammatory measures. These indices are objective, with well characterized biological underpinnings, and can be measured simply, noninvasively and inexpensively. However, they are not clinically translatable, indeed the identification of reliable biomarkers in psychiatry is lagging behind other medical specialties.
Current projects the Dr. Knowles is the PI of are focused on providing answers to the unknowns that contribute to this lag, including: validating peripheral lipids in brain by investigating the relationship between phosphatidylcholine and phosphatidylinositol measured in plasma via mass spectrometry and their major compounds choline and myo-inositol in the brain measured via mess spectroscopy; establishing the potential of blood-based lipids and inflammation as markers of imminent, dynamically-assessed, suicide risk; and relating specific aspects of bipolar disorder symptomatology to functional single-nucleotide variants (SNVs) and/or copy–number variants (CNVs) in voltage-gated calcium-channel gene networks in child-affected trios.
Researcher | Research Background
Dr. Knowles specializes in statistical genetics. She was trained originally as a psychologist and worked briefly as a low-intensity cognitive behavioral therapist. During her post-doc she trained in family-based genetic analysis focussed on isolating the genetic underpinnings of risk for psychiatric disorders and also allied phenotypes (e.g. cognition, brain morphology). More recently Dr. Knowles has turned her attention to the identification and validation of blood-based biomarkers, especially lipids and inflammation, for affective disorders.