Current Research and Scholarly Interests
Our research group is dedicated to improving care for children with degenerative neurological disorders. We are particularly focused on genetic and autoimmune disorders that cause damage to the myelin (the fatty insulation around the nerves) of the brain and spinal cord. X-linked adrenoleukodystrophy (genetic) and multiple sclerosis (autoimmune) are the prototypical examples of degenerative disorders of myelin; these are the two disorders we study most intensively.
Our group has two primary areas of interest:
1. In the laboratory, we are hard at work developing diagnostic and therapeutic biomarkers for multiple sclerosis (MS) and X-linked adrenoleukodystrophy (ALD)
2. In the clinic, we are leading efforts to develop innovative care strategies for patients with demyelinating disorders.
One of the great obstacles to understanding and treating MS is its pathological heterogeneity. MS is currently defined solely by clinical and radiological criteria. Although these criteria have improved over time, abundant evidence suggests that pathophysiologic "subtypes" of MS still exist and, moreover, are indistinguishable from one another using current diagnostic criteria. Because potential differences in MS pathogenesis may result in divergent responses to the same treatment, this pathogenic variability poses serious hurdles to developing and implementing treatment strategies for affected patients.
The inflammatory cerebral demyelination of ALD represents a potential genetic model for MS. ALD is a monogenetic, X-linked disorder involving a gene (ABCD1) that encodes a peroxisomal protein. The incidence is ~1:17,000. The biochemical hallmark of the disease is an accumulation of very-long chain fatty acids in several tissues, including myelin and blood. Cerebral demyelination occurs in only a subset of patients, but is not related to genotype, suggesting a role for environmental modifiers, much like MS.
Our group is on the verge of exciting breakthroughs with the potential to shed important insight on the pathogenic and therapeutic pathways common to both MS and ALD. We hope to move these insights into clinical trials in the very near future.
We are proud to partner with disease consortiums and patient advocacy groups from around the world in the fight against these diseases.