Leukodystrophies Research

‘Hope is our strongest asset’ – Hugo W. Moser, M.D.

All faculty members at the Moser Leukodystrophy Center have a successful track record of research funding by the National Institutes of Health and private foundations. Studies include clinical patient related projects and basic bench research. Kennedy Krieger scientists include a number of world-renowned experts on genetic diseases with a wide range of research expertise, often utilizing the most advanced technologies. Kennedy Krieger has also served as the main site for a number of clinical trials for genetic diseases. There is also an innovative program exploring stem cell therapy as a therapeutic approach for neurogenetic diseases.

As a result of Dr. Hugo Moser’s decades of long work, our center houses the world’s largest clinical database and biorepository for adrenoleukdystrophy. We collaborate with numerous centers across the world and serve as a resource center for historical data and biospecimen for this disease.

Current Research Projects

  • Study of sensory-motor function in Adrenoleukodystrophy:

    The laboratory of Dr. Kathleen Zackowski is interested in investigating the mechanisms that underlie sensorimotor impairments and disability resulting from damage to the central nervous system so as to improve disability. To this point her studies have focused on the motor control problems that occur as a result of neurodegenerative disease processes such as adrenomyeloneuropathy. She has been developing a model in which she uses advanced neuroimaging in combination with quantitative impairment measures to understand pathologically relevant structure-function relationships in individuals with neurodegenerative disease. In this model she also links impairment measures to performance measures (i.e., measures of walking and balance) to enable the development of pathologically specific rehabilitative interventions. This type of model may be very helpful in tracking disease progression and evaluating rehabilitative and pharmacologic treatments for people with neurodegenerative diseases. Dr. Zackowski’s studies extend broadly from clinical questions that can be addressed in the laboratory and results applied in the clinic to more theoretic questions that evaluate the mechanisms responsible for motor dysfunction.

    Learn more about Dr. Zackowski’s studies

  • Advanced Magnetic Resonance Imaging in Leukodystrophies:

    Together, in collaboration with biophysicists at the F.M. Kirby Research Center for Functional Brain Imaging, we utilize the most advanced neuroimaging techniques to evaluate disease pathology in leukodystrophies. As an example, our team was the first to develop and apply magnetization transfer weighted imaging as a highly sensitive tool to detect microscopic changes in white matter in leukodystophies. This imaging method is now widely used in multiple sclerosis, and spinal cord injury.

  • Developing Newborn Screening for Adrenoleukodystrophy:

    Dr. Moser’s wife, Ann Moser, has developed a validated methodology that allows large scale screening of newborn blood filter papers. On February 16, 2016, the US. Department of Health and Human Service added adrenoleukodystrophy to the newborn Recommended Uniform Screening Panel. To read more about this story click here.

  • High-throughput screening of therapeutics:

    We have developed methodologies to evaluate the effect of thousands of drugs in culture dish systems, this has allowed us to identify novel candidate therapeutics for leukodystrophies. These drugs can then be tested in patients in clinical trials. The group of Dr. Paul Watkins is currently funded through the National Institute of Health to conduct an expanded screening for compounds that will reduce very long chain fatty acids in adrenoleukodystrophy.

  • Myelin Restoration by cell-based therapy:

    Dr. Ali Fatemi’s basic laboratory has an active research program for experimental cell therapies in white matter diseases. Several animal models are being investigated and a number of stem cell and progenitor cells are used in these models to restore myelination in injured white matter.
    View Stem Cell Therapy Presentation

  • Study of Molecular Mechanisms in Adrenoleukodystorphy:

    The peroxisomal disease laboratory, as well as Drs. Paul Watkins, Steve Steinberg, and Ali Fatemi are renowned investigators in this field. We utilize mouse and cell culture models of adrenoleukodystrophy to understand the mechanism of white matter injury in this disorder.

  • Gene Discovery in Leukodystrophies:

    Our clinicians work closely together with the team of Dr. Jonathan Pevsner, who utilizes bioinformatics tools to analyze large genomic data sets in patients. The goal is to discover novel genes that may be involved in leukodystrophies.

Appointments & Referrals

The Search for Ellie's Cure

Doctors at the Moser Center for Leukodystrophies search for the key to curing Ellie, while keeping her symptoms at bay. 

Learn more.

Legacy of Hugo Moser

Extraordinary Man, Extraordinary Mission


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