Keck School of Medicine
Department of Biochemistry and Molecular Biology
Institute for Genetic Medicine
- Inherited Metabolic Disorders
- Gene Therapy
- Drug Screening
- Evolutionary Biology
- Human/Mammalian Genetics
Research OverviewPeroxisomes are organelles that play critical roles in metabolic processes and signaling pathways required for human health and development. Our laboratory focuses on developing therapies for genetic disorders caused by impaired peroxisome assembly, structure, and function. We place special emphasis on peroxisome biogenesis disorders (PBDs), which include Zellweger spectrum disorder (PBD-ZSD) and rhizomelic chondrodysplasia punctata (RCDP). Affected children frequently show progressive loss of vision and hearing, brain and liver dysfunction, craniofacial dysmorphism, and enamel defects. We also investigate a related peroxisomal disorder called X-linked adrenoleukodystrophy (X-ALD). This includes the childhood cerebral ALD (CCALD) form of disease that results in inflammatory demyelination and adult onset adrenomyeloneuropathy (AMN) that affects spinal cord function and leads to loss of lower limb functions.
We use multidisciplinary approaches to identify more effective treatments for these rare peroxisomal disorders as well as more common disorders associated with peroxisome dysfunction. This includes high-throughput screening (HTS) of large chemical libraries, cell transplantation, and gene therapy. As part of these efforts, we developed patient-specific induced pluripotent stem cells (iPSCs) that provide exciting new cell culture models of peroxisomal disorders. By working closely with the physician-scientists and patient advocacy groups, such as the Global Foundation for Peroxisomal Disorders (GFPD) (http://www.thegfpd.org/) and RhizoKids International (http://www.rhizokids.com/), we seek to translate our research into improved treatments in the near future.
We have also used comparative genomics and lipidomics approaches to uncover evidence that peroxisomal metabolism has been strongly influenced by primate diets. We wish to use the knowledge gained from these projects to benefit the health of captive non-human primates and people with peroxisomal disorders.
Ning Huang: Graduate Student, PhD Program
Angel Flores: Laboratory Technician
Erin Oliphant: Laboratory Staff
Leone D'Antonio Laboratory Staff
Niki Vora: Undergraduate Student
Justin Sleeter: Medical Student