NORD Awards $145,000 to Fuel Breakthroughs in Rare Disease Research

The latest funding cycle directs $145,000 toward studies on appendix cancer, epidermodysplasia verruciformis, Peutz-Jeghers syndrome, and partial trisomy 6q. Dr. Antonio Sommariva of Italy’s Veneto Institute of Oncology received $50,000 to examine TROP2 expression in pseudomyxoma peritonei, a rare cancer that often leaves patients with few options beyond palliative care.

Dr. Sanjay Ahuja, Chief Science Officer at Regal Intel, landed two grants totaling $65,000. He plans to utilize privacy-preserving artificial intelligence to extract data from dermatopathology records to improve care guidelines for epidermodysplasia verruciformis and to correlate STK11 genetic variants with cancer onset in Peutz-Jeghers syndrome patients. Meanwhile, Dr. Giovanna Piovani of the University of Brescia received $30,000 to develop patient-specific stem cell models for partial trisomy 6q, an ultra-rare chromosomal disorder currently lacking clinical characterization.

Since 1989, NORD has distributed over $9 million to early-stage research. This seed capital is designed to generate the preliminary evidence necessary to attract larger investments from the National Institutes of Health, the FDA, or private sponsors, aiming to address a landscape where fewer than 5% of the 10,000 known rare diseases have an approved therapy.