Researchers from across the world gathered at the University of Notre Dame for the annual Michael, Marcia, and Christa Parseghian Conference for Niemann-Pick Type C (NPC) Research from June 12-14. More than 70 researchers, patients, and family members attended the conference with some attendees travelling from as far as Chile, Denmark, France, Israel and the United Kingdom for this year’s event. Researchers from Columbia University, the National Institutes of Health, Scripps Research Institute, Stanford University, Tufts University, Weill Cornell Medical College and many other universities and institutions around the United States also came to the conference.
Several Notre Dame researchers presented updates about their work throughout the conference. During the first session, Kasturi Haldar, the Rev. Julius A. Nieuwland, C.S.C., Professor of Biological Sciences and the James C. Parsons and Carrie Ann Quinn Director of the Center for Rare and Neglected Diseases, gave a talk titled, “A new formulation to treat neurological and systemic disease in Niemann-Pick Type C,” which discussed her lab’s work in studying the effects of a new formulation of an existing oral anti-inflammatory drug plus an older formulation of a well-known compound on NPC disease.
Chemistry professors Olaf Wiest and Paul Helquist gave a presentation called, “Tracing the Development of Histone Deacetylase (HDAC) Inhibitors as Potential Therapeutic Agents for Niemann-Pick Type C disease,” which discussed the history of their work with HDAC inhibitors and the application of HDAC inhibitors in treating in NPC cell lines. The work by Weist, Helquist and their collaborators, has been reviewed and approved by the FDA, and an HDAC inhibitor will be used in clinical trials with NPC patients later this year.
Md. Suhail Alam, a post-doctoral researcher in the Haldar lab, discussed the “Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C.” Inflammation of organs is often associated with neurodegenerative diseases, and inflammation proteins are often a source of biomarkers in these diseases. However, inflammation in multiple organs and heterogeneity in disease presents many challenges in distinguishing the extent to which blood-based markers are a result of specific diseases. Alam’s work suggests that dual analysis of levels of the inflammatory markers lysozyme and cathepsin S may enable detection of multiple distinct states of neurodegeneration in plasma. He is currently validating these two biomarkers in neurological disease and liver disease in NPC patient plasma.
In addition, Eve Granatosky, a graduate student in the Department of Chemistry and Biochemistry gave a poster presentation called, “Regulation of Cholesterol Homeostasis with GEX1A: A Potential Lead for Niemann-Pick Type C Disease.”
The conference is made possible through a generous gift to Notre Dame by APMRF, which established the Michael, Marcia and Christa Parseghian Endowment for Excellence to support NPC research and discovery. Next year’s conference is tentatively scheduled for June 11-13, 2015 at the University of Notre Dame.