NORD Awards Seed Grants to Advance Breakthroughs in Rare Disease Research

Over $145K in Funding Supports Innovative Studies Targeting Four Critically Underserved Rare Conditions

QUINCY, Mass., Oct. 1, 2026 /PRNewswire/ -- The National Organization for Rare Disorders (NORD^®), the leading national nonprofit serving more than 30 million Americans with rare diseases, announced the recipients of its latest seed grant funding cycle totaling $145,000. Four grants have been awarded to researchers conducting studies on appendix cancer/pseudomyxoma peritonei (ACPMP), epidermodysplasia verruciformis (EV), Peutz-Jeghers syndrome (PJS), and partial trisomy 6q. The grants are funded by the ACPMP Research Foundation, a NORD Member patient advocacy organization; the pseudomyxoma peritonei, Peutz-Jeghers syndrome, and epidermodysplasia verruciformis communities; and Dylan's Rare Chromosome Dream Team, alongside the partial trisomy 6q community.

The 2025 recipients of NORD's seed grants are:

• Dr. Antonio Sommariva, Surgical Oncologist and Head of the Advanced Surgical Oncology Unit at the Veneto Institute of Oncology in Padova, Italy, was awarded $50,000 to advance research in appendix cancer/ pseudomyxoma peritonei (ACPMP). ACPMP is an extremely rare cancer of the appendix that typically starts in the appendix and frequently spreads to the abdominal cavity which can lead to either a build-up of mucinous fluid in the abdomen known as pseudomyxoma peritonei or a condition referred to as peritoneal carcinomatosis.
  
  
• Dr. Sanjay Ahuja, Chief Science Officer, Regal Intel, Warren, New Jersey, United States, was awarded $25,000 to advance research in epidermodysplasia verruciformis (EV), a rare genetic dermatosis characterized by a compromised immunologic ability to defend against and eradicate certain types of human papillomavirus (HPV), leading to polymorphous cutaneous lesions and high risk of developing non-melanoma skin cancer.
  
  
• Dr. Sanjay Ahuja, Chief Science Officer, Regal Intel, Warren, New Jersey, United States, received a second grant of $40,000 to advance research in Peutz-Jeghers Syndrome (PJS), a rare genetic condition characterized by the development of benign polyps in the stomach and intestines and by distinctive dark spots on the skin and mucous membranes.
  
  
• Dr. Giovanna Piovani, Associate Professor of Cellular and Applied Biology, University of Brescia, Italy, was awarded $30,000 to advance research in Chromosome 6, partial trisomy 6q, an extremely rare chromosomal disorder in which a portion of the sixth chromosome (6q) is present three times (trisomy) rather than twice in cells in the body.

"Huge congratulations to our seed grant recipients — Drs. Sommariva, Ahuja, and Piovani! Their groundbreaking work represents a major leap forward for everyone affected by ACPMP, EV, PJS, and Partial Trisomy 6q," said Tracey Sikora, NORD Vice President of Research and Clinical Programs. "We're thrilled to champion innovative research that directly tackles the urgent, unmet needs of rare disease communities. We can't wait to see how their insights will transform patient care and drive the future of rare disease research."

Sommariva's study, titled "Analysis of TROP2 expression in Pseudomyxoma Peritonei (PMP)," recognizes that "Cytoreductive surgery associated with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) greatly improves survival and quality of life for patients affected by pseudomyxoma peritonei (PMP). However, a significant rate of patients cannot be treated, and the therapeutic opportunities (systemic chemotherapy) are very limited and consist essentially in palliative measures. This research is focused on a possible therapeutic target, the trophoblast cell surface antigen 2 (TROP2) for which specific agents have already been developed and approved by the FDA for other solid tumors. Preliminary results confirm overexpression in PMP tumor cells. The aim of the study is to expand and strengthen the initial evidence of TROP2 and to gain insights into its role in PMP pathogenesis, which is a prerequisite for identification of a new target for combinatory/adjuvant therapies."

Ahuja's study, titled "Quantifying Malignancy and Treatment Effectiveness in EV: A Real-World Evidence Study of Surveillance Gaps," is based on the knowledge that "individuals with epidermodysplasia verruciformis (EV) face a high lifetime risk of skin cancer due to specific genetic mutations and persistent HPV infections, yet real-world data on surveillance and treatment outcomes remains severely limited. This project utilizes advanced, privacy-preserving artificial intelligence to securely extract critical clinical details, such as specific HPV subtypes, skin cancer recurrence, and lesion locations, directly from unstructured dermatopathology reports. By translating this hidden information into robust real-world evidence, the goal is to quantify current surveillance gaps and help establish standardized, evidence-based care guidelines to improve malignancy-free survival for the EV community."

Ahuja's second study, titled "Risk-Stratification of PJS Complications: A RWE Study on STK11 Variant Effects on Emergency Surgery and Cancer Onset," investigates Peutz-Jeghers Syndrome (PJS), "a rare hereditary condition carrying a high lifetime risk of severe gastrointestinal complications and aggressive cancers. Current screening guidelines do not account for the specific genetic mutations driving the disease. This project utilizes advanced, privacy-preserving artificial intelligence to securely extract complex genetic data from medical records and correlate specific STK11 mutations with the age of onset for emergency surgeries and malignancies. By translating this real-world data into actionable evidence, we aim to help establish precision, variant-specific surveillance protocols that can prevent life-threatening emergencies and improve long-term outcomes for the PJS community."

Piovani's study, titled "Partial Trisomy 6q: Clinical Characterization, Genomic Profiling, and Patient-Specific iPSC Models for Functional Disease Investigation," aims to provide a better understanding of partial trisomy 6q, "an ultra-rare chromosomal disorder for which very little is known, making diagnosis and genetic counseling challenging for affected individuals and their families. This project will combine clinical and genomic information with patient-derived stem cell models to investigate how partial trisomy 6q affects human development and to identify the biological mechanisms underlying the disorder. The results will provide valuable resources for the rare disease community and lay the groundwork for future research aimed at improving patient care."

NORD's Rare Disease Research Grant Program provides funding to qualified researchers to support new or existing scientific research studies or clinical trials with the potential to attract larger funding from agencies like the National Institutes of Health (NIH), U.S. Food and Drug Administration (FDA), or corporate sponsors.

Since 1989, NORD has awarded more than $9 million in research grants to advance scientific discovery for rare diseases that lack treatment and funding. With fewer than 5% of the approximately 10,000 known rare diseases having an FDA-approved therapy, and the millions of dollars required to develop a prescription medication, early-stage funding plays a critical role in unlocking progress. NORD's grant program has jump-started urgent rare disease research, supported numerous peer-reviewed publications, and contributed to the development of two FDA-approved treatments.

To learn more, visit rarediseases.org/advancing-research/research-grant-programs.

About the National Organization for Rare Disorders (NORD^®) 

Founded in 1983, the National Organization for Rare Disorders (NORD^®) is a leading independent nonprofit nonpartisan organization dedicated to improving the health and lives of more than 30 million Americans with rare diseases. In partnership with more than 350 disease-specific member patient organizations and a Rare Disease Centers of Excellence network spanning more than 170 medical and research institutions and children's hospitals, NORD advances care, research, education, and advocacy on behalf of the greater rare disease community. Learn more at rarediseases.org. 

SOURCE National Organization for Rare Disorders (NORD®)