{"id":292844,"date":"2026-10-01T12:22:16","date_gmt":"2026-10-01T16:22:16","guid":{"rendered":"https:\/\/rarediseases.org\/?p=292844"},"modified":"2026-10-01T12:22:16","modified_gmt":"2026-10-01T16:22:16","slug":"nord-awards-seed-grants-to-advance-breakthroughs-in-rare-disease-research","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/nord-awards-seed-grants-to-advance-breakthroughs-in-rare-disease-research\/","title":{"rendered":"NORD Awards Seed Grants to Advance Breakthroughs in Rare Disease Research"},"content":{"rendered":"<p><i><span data-contrast=\"auto\">Over $145,000 in Funding Supports Innovative Studies Targeting Four Critically Underserved Conditions<\/span><\/i><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/p>\n<p><b><span data-contrast=\"auto\">Quincy, Mass., Oct. 1, 2026 \u2014<\/span><\/b>The National Organization for Rare Disorders (NORD\u00ae), 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.<\/p>\n<p>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\u2019s Rare Chromosome Dream Team, alongside the partial trisomy 6q community.<\/p>\n<p><span class=\"TextRun SCXW173221541 BCX0\" lang=\"EN-US\" xml:lang=\"EN-US\" data-contrast=\"auto\"><span class=\"NormalTextRun SCXW173221541 BCX0\"><strong><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-292848 alignright\" src=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/10\/2025-Seed-Grant-Awardees-1-240x300.png\" alt=\"\" width=\"363\" height=\"453\" srcset=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/10\/2025-Seed-Grant-Awardees-1-240x300.png 240w, https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/10\/2025-Seed-Grant-Awardees-1-819x1024.png 819w, https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/10\/2025-Seed-Grant-Awardees-1-768x960.png 768w, https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/10\/2025-Seed-Grant-Awardees-1.png 1080w\" sizes=\"auto, (max-width: 363px) 100vw, 363px\" \/>The<\/strong><\/span><strong><span class=\"NormalTextRun SCXW173221541 BCX0\">\u00a0recipients of NORD\u2019s seed grants are:\u00a0<\/span><\/strong><\/span><strong><span class=\"EOP Selected SCXW173221541 BCX0\" data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/strong><\/p>\n<ul>\n<li><strong>Dr. Antonio Sommariva, Surgical Oncologist and Head of the Advanced Surgical Oncology Unit at the Veneto Institute of Oncology in Padova, Italy,<\/strong> was awarded $50,000 to advance research in <a href=\"https:\/\/rarediseases.org\/rare-diseases\/pseudomyxoma-peritonei\/\" target=\"_blank\" rel=\"noopener\">appendix cancer\/ pseudomyxoma peritonei (ACPMP)<\/a>. 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.<\/li>\n<li><strong>Dr. Sanjay Ahuja, Chief Science Officer, Regal Intel, Warren, New Jersey, United States,<\/strong> was awarded $25,000 to advance research in <a href=\"https:\/\/rarediseases.org\/mondo-disease\/epidermodysplasia-verruciformis\/\" target=\"_blank\" rel=\"noopener\">epidermodysplasia verruciformis (EV)<\/a>, 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.<\/li>\n<li><strong>Dr. Sanjay Ahuja, Chief Science Officer, Regal Intel, Warren, New Jersey, United States,<\/strong> received a second grant of $40,000 to advance research in <a href=\"https:\/\/rarediseases.org\/rare-diseases\/peutz-jeghers-syndrome\/\" target=\"_blank\" rel=\"noopener\">Peutz-Jeghers syndrome (PJS)<\/a>, 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.<\/li>\n<li><strong>Dr. Giovanna Piovani<\/strong>, Associate Professor of Cellular and Applied Biology, University of Brescia, Italy, was awarded $30,000 to advance research in <a href=\"https:\/\/rarediseases.org\/rare-diseases\/chromosome-6-partial-trisomy-6q\/\" target=\"_blank\" rel=\"noopener\">chromosome 6, partial trisomy 6q<\/a>, 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.<\/li>\n<\/ul>\n<p>&#8220;Huge congratulations to our seed grant recipients \u2014 Drs. Sommariva, Ahuja, and Piovani! Their groundbreaking work represents a major leap forward for everyone affected by ACPMP, EV, PJS, and Partial Trisomy 6q,&#8221; said <strong>Tracey Sikora<\/strong>, NORD Vice President of Research and Clinical Programs. &#8220;We\u2019re thrilled to champion innovative research that directly tackles the urgent, unmet needs of rare disease communities. We can&#8217;t wait to see how their insights will transform patient care and drive the future of rare disease research.&#8221;<\/p>\n<p><span data-contrast=\"auto\">Sommariva\u2019s study, titled \u201c<strong>Analysis of TROP2 expression in Pseudomyxoma Peritonei (PMP)<\/strong>,\u201d<\/span><span data-contrast=\"none\"> recognizes that \u201cCytoreductive surgery associated with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) greatly improves survival and quality of life for patients affected by pseudomyxoma peritonei. 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.\u201d<\/span><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">Ahuja\u2019s study, titled \u201c<strong>Quantifying Malignancy and Treatment Effectiveness in EV: A Real-World Evidence Study of Surveillance Gaps<\/strong>,\u201d<\/span> <span data-contrast=\"auto\">is based on the knowledge that \u201cindividuals 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.\u201d<\/span><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;335559738&quot;:0,&quot;335559739&quot;:0}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">\u00a0<\/span><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">Ahuja\u2019s second study, titled \u201c<strong>Risk-Stratification of PJS Complications: A RWE Study on STK11 Variant Effects on Emergency Surgery and Cancer Onset<\/strong>,\u201d investigates Peutz-Jeghers Syndrome (PJS), \u201ca 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.\u201d\u00a0<\/span><\/p>\n<p>Piovani\u2019s study, titled \u201c<strong>Partial Trisomy 6q: Clinical Characterization, Genomic Profiling, and Patient-Specific iPSC Models for Functional Disease Investigation<\/strong>,\u201d aims to provide a better understanding of \u201cpartial trisomy 6q, a 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.\u201d<\/p>\n<p><a href=\"https:\/\/rarediseases.org\/advancing-research\/research-grant-programs\/\" target=\"_blank\" rel=\"noopener\">NORD\u2019s Rare Disease Research Grant Program<\/a> 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.<\/p>\n<p>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\u2019s grant program has jump-started urgent rare disease research, supported numerous peer-reviewed publications, and contributed to the development of two FDA-approved treatments.<\/p>\n<p>To learn more, visit <a href=\"http:\/\/rarediseases.org\/advancing-research\/research-grant-programs\" target=\"_blank\" rel=\"noopener\">rarediseases.org\/advancing-research\/research-grant-programs<\/a>.<\/p>\n<p><b><span data-contrast=\"auto\">About the National Organization for Rare Disorders (NORD\u00ae)\u00a0\u00a0<\/span><\/b><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">Founded in 1983, the National Organization for Rare Disorders (NORD\u00ae) 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\u2019s hospitals, NORD advances care, research, education, and advocacy on behalf of the greater rare disease community. Learn more at <\/span><a href=\"https:\/\/rarediseases.org\/\" target=\"_blank\" rel=\"noopener\"><span data-contrast=\"none\">rarediseases.org<\/span><\/a><span data-contrast=\"auto\">.\u00a0\u00a0<\/span><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Over $145,000 in Funding Supports Innovative Studies Targeting Four Critically Underserved Conditions\u00a0 Quincy, Mass., Oct. 1, 2026 \u2014The National Organization for Rare Disorders (NORD\u00ae), the leading national nonprofit serving more &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/rarediseases.org\/es\/nord-awards-seed-grants-to-advance-breakthroughs-in-rare-disease-research\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> &#8220;NORD Awards Seed Grants to Advance Breakthroughs in Rare Disease Research&#8221;<\/span><\/a><\/p>\n","protected":false},"author":37,"featured_media":289560,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"categories":[4066,193],"tags":[],"class_list":["post-292844","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-press-releases-advocacy","category-research"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/292844","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/users\/37"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=292844"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/292844\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media\/289560"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=292844"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=292844"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=292844"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}