Neuroscience, Rare/Orphan
Development of a Treatment for Niemann-Pick Type C (NPC)
2017 Harrington Scholar-Innovator
In NPC, misfolded proteins trigger a series of events at the molecular level that result in loss of nerve cells in the brain. The Ory lab aims to develop a small molecule that targets a protein-folding pathway, causing proteins to fold correctly and move to their correct location in the cell.
With support from Harrington Discovery Institute, Dr. Ory hopes to develop the next generation of drugs for NPC, potentially targeting the protein-folding pathway.
“We realized that we really needed to couple development of a treatment with early diagnosis. If you can treat early, you can prevent or delay the onset of the disease. The result was a new biomarker for newborns, currently being piloted by the New York State Department of Health.”
“We work very closely with patient advocacy groups, which are comprised of very special families who want to partner with scientists to make a difference.”
“I am a cardiologist by training and began working on NPC as an accident. We found a defect in cholesterol self-regulation in certain cells, and those cells were cells from NPC patients. We became curious about NPC, and our work became focused on it.”
Source: Article from 2017-18 Annual Publication.