The Boler-Parseghian Center for Rare and Neglected Diseases

Since August 2015, the CRND with the University of Notre Dame has been working to understand the extreme variability of onset age and symptom presentation in NKH children.

They are currently conducting two separate, but related, studies.

The Rare Health Exchange Program

Through a Notre Dame Student education program, NKH medical records are collected and used to develop a natural history of NKH – essentially how NKH unfolds and progresses. This data will hopefully provide an NKH roadmap for the different mutations, so we can understand what future expectations and symptoms a child with NKH might have. It also provides researchers a way to identify whether treatments are working as expected.

The Molecular Study

Through skin biopsies and blood tests researchers are able to evaluate the molecular and cellular factors that contribute to NKH. This in turn will be used to develop targeted therapies and treatments for NKH.


To participate please contact Barbara Calhoun, the outreach co-ordinator for both studies.

  • +1-574-631-883
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