Research
TBCK Encephaloneuronopathy
Our group has led the characterization of the clinical phenotype of a pediatric neurodegenerative disorder caused by loss-of-function variants in the TBCK gene. We are interested in understanding the physiologic role of TBCK protein, how it may be linked to mitochondrial homeostasis and what underlies the selective neuronal vulnerability seen in this disorder
Congenital Disorders of Autophagy
CDAs, including TBCK, are linked to pediatric-onset neurodegeneration. We are interested in examining common disease mechanisms across different genetic disorders that disrupt autophagy and how mitochondrial quality control may be affected in these disorders
Novel Human Disease Genes/Expansion of Phenotypes
Dr. Ortiz-Gonzalez's clinical expertise in pediatric neurogenetics often leads to more questions than answers for families facing an ultra-rare disease. Our lab collaborates with clinicians and researchers across the world to pursue functional validation of novel disease genes and/or novel phenotypes of known disease genes
TBCK Clinical Research
We collaborate with researchers and clinicians to continue to expand our understanding of this ultra-rare disease, understand genotype-phenotype correlations, and lay the groundwork for natural history and future clinical studies. For clinicians/families interested in learning more about clinical research, please reach us at tbckresearch@chop.edu.