My current studies are focused broadly on understanding the molecular and functional genomic features that underlie complex disease, specifically: (1) autism spectrum disorder (ASD) and an associated inflammatory bowel condition (ASD associated ileocolitis) in children and, (2) interstitial cystitis/bladder pain syndrome (IC/BPS), a complex urologic disorder in men and women aged 18-80 years old. By working directly with clinicians who treat these patients, I have been able to amass truly unique tissue banks from which to draw biomaterials (e.g. biopsy tissue, whole blood, serum) for molecular profiling. The primary goals for these studies are: (a) to understand the biology of the disease, (b) to identify clinically relevant subgroups with these complex disorders and, (c) using actual patient specimens, to identify biomarkers that will aid in diagnosis and treatment of patients presenting with these very heterogeneous conditions.
My NIH and private foundation funded research has resulted in: (1) the first ever molecular description of gastrointestinal inflammation in GI-symptomatic children with autism, (2) a putative blood-based biomarker for GI inflammation in children with ASD, and (3) clinical sub-phenotyping in interstitial cystitis/bladder pain syndrome that distinguishes a bladder-centric disease phenotype from a systemic pain syndrome phenotype.
Educational Program Involvement
Molecular Genetics and Genomics PhD
Program Research Interest: Identification of genetic variants that contribute to complex disease, Gene-environment interactions, Epigenetics, Genetic epidemiology, Bioinformatics
Program Research Interest: Addiction and Substance Abuse, Behavioral and Systems Neurobiology, Development and Plasticity, Molecular Neurobiology, Neurological Disease and Aging, Neuropharmacology, Sensory Neurobiolog