Alec's Story: How Notre Dame supports rare disease research

University of Notre Dame
University of Notre Dame
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Published 2024-02-29
Meet Alec Koujaian. He works at Menards and likes to play basketball and video games with his dad. He also lives with Niemann-Pick disease type C.

NPC is very rare, affecting one in 120,000 people, and death typically occurs before or during adolescence. It's one of 20 rare diseases that the University of Notre Dame's Boler-Parseghian Center for Rare and Neglected Diseases studies and supports.

The Boler-Parseghian Center works with families affected by rare diseases to combine studies of patient data and tissue with fundamental biological research in order to better understand disease, identify molecular targets, and develop new diagnostics and treatments. We have active pharmaceutical partnerships to accelerate the discovery and development of drugs and therapies for rare and neglected diseases.

Learn more: go.nd.edu/f3a206
All Comments (2)
  • @TheMazinoz
    Im glad you're getting good help at last. I wish research on genetics and treatment of Ehlers Danlos Hypermobility type was as advanced. So far still looking for the genetic basis of it. It is also the most common type.