We are a translational research lab located at the University of Colorado Anshcutz Medical Campus focusing on inborn errors of metabolism such as pyridoxine-dependent epilepsy (PDE), glutaric aciduria type I (GA I), and vitamin B6 metabolism. We are committed to scientist - advocate collaborations with the goal to ensure scientific advances are relevant and patient-centered. We partner with families, clinicians, and scientists to study the natural history of these neurologic disorders and the impact of therapies on clinical outcomes.
We also investigate the genetic, molecular, and cellular basis of these genetic conditions using zebrafish as a principal model. This work is focused on understanding the role of accumulating metabolites in disease pathology. We aim to leverage our understanding of biochemistry in order to develop novel therapeutic approaches and improve relevant clinical outcomes.
Despite excellent seizure control with pyridoxine supplementation, most patients with pyridoxine-dependent epilepsy (PDE) have intellectual disability or developmental delay. The primary focus of our research is to improve the intellectual and developmental delays experienced by many patients.
History: Glutaric Aciduria Type I (GA I) was first described by Distinguished Professor Stephen Goodman in 1975. The Goodman laboratory, including Dr. Woontner, focused on GA I for over forty years.
The CHAnging Rare disorders of LysInE (CHARLIE) metabolism project is focused on develpoming new treatments for patients with pyridoxine-dependent epilepsy and glutaric aciduria type I. Novel therapies will be developed and validated using neuronal stem cells, zebrafish, and mouse models.
The Consent and Disclosure Recommendations (CADRe) workgroup developed an ethical framework for consent and disclosure of genetic testing. The aim of this work is to improve access to genetic testing by supporting non-genetics trained healthcare providers to facilitate genetic testing.