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Rare Disorders

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Adrenoleukodystrophy (ALD)

  • Adrenoleukodystrophy (ALD) is a severe genetic disease affecting an individual’s white matter in their brain. Some individuals with ALD will present with lesions in the cortical white matter, which can change in size over time. To understand the relationship between lesions and disease, we are interested in observing the morphological changes in these lesions over time.

Mucopolysaccharidosis (MPS)

  • Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic disorders characterized by a deficiency of lysosomal enzyme activity leading to the build-up of glycosaminoglycans. While signs and symptoms vary according to the type of MPS (I, II, III, IV, VI, VII, IX), many have a profound effect on the central nervous system. Utilizing MRI, we are interested in understanding how MPS affects the individual’s central nervous system (CNS) over their lifespan. 
  • We also utilize neuropsychological data to correlate how clinical manifestations are related to the changes observed in the brain.
  • Currently Recruiting Participants

Other rare diseases

  • Alpha-mannosidosis (AM)
  • Mucolipidosis (ML)
  • Gaucher
  • Gangliosidosis (GM)

Cytomegalovirus

In collaboration with Dr. Mark Schleiss and Dr. Erin Osterholm, we are imaging and analyzing the brains of infants with congenital Cytomegalovirus (CMV). This data is compared to age- and sex-matched healthy controls to understand how congential CMV affects infants brain structure.

Pediatric long COVID (SARS-CoV-2)

Research into the effects of COVID-19 on adults have found reports of cognition and fatigue issues after recovering from the disease. We are interested if children and young adults are similarly affected, and more notably, if MRI can be used to note possible related changes in brain structure and function.

Neuroimaging

  • Brain
  • Spinal Cord
  • MR Spectroscopy
  • EEG-fMRI
  • CSF flow
  • Infant Scanning

Retinal Imaging

Cerebral Malaria

Cerebral malaria is the most severe neurological pathology caused by malaria parasite infection. While rare, the disease has higher incidence rates in African countries, with younger children being particularly vulnerable to the disease. In our current research, we are quantitatively analyzing the brain volumes on the MRI data of patients in Malawi to study the disease’s effects on the brain. These neurological findings will also be related to the patient’s cognitive assessment data to draw connections between the brain’s structure and clinical symptoms.

Epilepsy

Gait Analysis

We collected 3D kinematic data to determine markers of gait pathology in MPS patients. Along with 3D kinematics we also collected video recordings of gait and performed goniometric (range-of-motion) measurements. The goal of this project is to analyze this data by creating codes in Matlab for the analysis.

 

Electrophysiology

  • EEG
  • ERP
  • Evoked potentials

Animal models