The National Organization for Rare Disorders (NORD®) has announced its distinguished slate of honorees for the annual NORD Rare Impact Awards®, recognizing a diverse group of biopharma industry leaders, medical scientists, and patient advocates. These individuals and organizations are being celebrated for their profound contributions to improving the lives of the more than 30 million Americans who are currently living with a rare disease.
The 2026 honorees represent a broad spectrum of excellence within the healthcare ecosystem. They include innovative companies whose breakthrough treatments have significantly changed patient outcomes, community leaders working tirelessly to raise awareness, trailblazing scientists advancing clinical research, and dedicated advocates spearheading vital legislative and policy changes across their respective states. Together, their efforts underscore a collective commitment to confronting the immense challenges posed by rare conditions.
Industry Innovators in Rare Disease
Among this year’s most anticipated recognitions are five biopharmaceutical companies and one nonprofit organization—working in close collaboration with impacted rare disease patient communities—that have recently secured groundbreaking U.S. Food and Drug Administration (FDA) approvals for first-of-their-kind therapies.
With approximately 95% of the more than 10,000 known rare diseases still lacking an approved treatment, advancing scientific progress remains a critical imperative for the medical community. Pamela K. Gavin, NORD Chief Executive Officer, emphasized the transformative nature of these accomplishments. NORD is deeply proud to honor these companies and nonprofit organizations for pioneering new therapies and advancing research that fundamentally changes what is possible for individuals and families affected by these rare conditions, noting that their progress in addressing unique clinical hurdles also contributes invaluable knowledge, methodologies, and scientific breakthroughs that move the entire rare disease field forward.
The 2026 Industry Innovator honorees reflect a diverse array of therapeutic areas and scientific modalities. Mighty Therapeutics is being recognized for FORZINITY™, the first-ever therapy approved for Barth syndrome. This very rare, progressive, and life-limiting genetic disease affects mitochondrial function, but the new treatment has been shown to improve muscle strength and overall quality of life. Barth syndrome advocates, including NORD member the Barth Syndrome Foundation, pushed tirelessly for its development for over a decade, ultimately helping to secure accelerated approval. This milestone brings renewed hope not only to Barth families but also to others facing rare mitochondrial diseases, who have lauded the approval as a major step forward for advancing research and regulatory pathways.
UCB is being honored for KYGEVVI, the first and only FDA-approved treatment for adults and children with thymidine kinase 2 deficiency (TK2d) whose symptoms manifested at or before 12 years of age. Clinical data demonstrated that KYGEVVI reduced the risk of death by over 90%, with 75% of these patients regaining at least many previously lost motor skills and a significant number reducing or stopping ventilatory support entirely. This approval was celebrated enthusiastically by NORD members, including the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association, all of which spent years investing in foundational mitochondrial disease research.
Fondazione Telethon is receiving recognition for Waskyra™, a breakthrough gene therapy for Wiskott-Aldrich syndrome (WAS). Developed through decades of meticulous research at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, WAS is a genetically inherited type of primary immunodeficiency (PI) and represents the first PI to receive an FDA-approved gene therapy. Furthermore, Waskyra marks a historic first instance of a nonprofit organization successfully developing and bringing to market an FDA-approved gene therapy. The achievement was widely celebrated by NORD member the Immune Deficiency Foundation.
Omeros is being honored for YARTEMLEA®, the first and only FDA-approved treatment for adults and children aged two years and older with hematopoietic stem cell transplant-associated thrombotic microangiopathy (TA-TMA). This condition is a significant and frequently fatal complication of stem cell transplantation resulting from endothelial cell injury, which causes dangerous blood clots in small blood vessels and subsequent vital organ damage. Bone marrow transplant advocacy groups and specialized medical institutions have lauded the targeted and potentially life-saving nature of this therapy.
Jazz Pharmaceuticals is recognized for MODEYSO™, the first and only FDA-approved treatment for recurrent H3K27M-mutant diffuse midline glioma (DMG), one of the most aggressive and devastating brain tumors impacting children and young adults. Every year, approximately 2,000 Americans and their families receive this harrowing rare cancer diagnosis. Their community spent more than a decade funding and participating in the foundational research that made this therapeutic breakthrough possible. By securing accelerated approval, Jazz Pharmaceuticals has offered patients and families the tangible possibility of a new future.
Verastem Oncology is being honored for the AVMAPKI® FAKZYNJA® CO-PACK, the specific first treatment approved for adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer (LGSOC) who have previously received systemic therapy. This rare cancer carries a critically high unmet medical need, with historical response rates of less than 14% to traditional chemotherapy and hormone therapy. With clinical response rates reaching 44%, the administration of this novel co-pack, combined with routine molecular testing for KRAS, is widely expected to establish a new standard of care for LGSOC patients in the near future.
Champions of Advocacy, Policy, and Science
Beyond industrial innovation, NORD is recognizing the exceptional individuals and organizations dedicated to improving daily life for the one in ten Americans living with a rare disorder.
The Foundation for Prader-Willi Research (FPWR) is the recipient of the prestigious Abbey S. Meyers Leadership Award. An active NORD member, FPWR leads patient-centered research into Prader-Willi syndrome (PWS) through its Global PWS Registry, which was constructed using NORD’s IAMRARE® patient registry platform. Insights derived directly from this registry contributed to last year’s historic FDA approval of VYKAT™ XR, the first approved treatment addressing excessive hunger—one of the hallmark symptoms and daily challenges of PWS. This milestone marked the first known instance of IAMRARE data directly contributing to an FDA approval.
Stephanie E. Haridopolos, MD, DABFM, is being honored with the Policy Changemaker Award. A board-certified family medicine physician and prominent public health official, Dr. Haridopolos has built a distinguished career bridging clinical practice and high-level government service. Serving initially as Chief of Staff of the Office of the Surgeon General and subsequently as its Director of National Health Communications, she has been a vital voice for rare disease patients. Most notably, she helped facilitate the Department of Health and Human Services’ decision to add Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Newborn Screening Panel (RUSP). Since May 2026, Dr. Haridopolos has also performed the interim duties of the Surgeon General in the absence of a Senate-confirmed nominee.
Julieta Bonvin Sallago, MD, of Connecticut, receives a Community Champion Award. An international medical graduate who lives with a rare disease herself, Dr. Sallago is pursuing a career as a genetic counselor in the United States. Working in clinical trial recruitment at Connecticut Children’s Hospital for the Glycogen Storage Disease Program—the exact family of disorders for which she was diagnosed—she has leveraged her unique scientific and cultural expertise to emerge as a leader within NORD’s volunteer community. She has supported the planning of Latino patient and family listening sessions, helped translate NORD Rare Disease Reports into Spanish, and served on the advisory committee for the NORD® Living Rare Study, driving Spanish-speaking participant recruitment.
Lily Emmanuel of Colorado is also honored with a Community Champion Award. As a passionate advocate and volunteer leader, she works to expand rare disease awareness and strengthen community connections across the western United States. Through her leadership with NORD Running for Rare® in Colorado, Emmanuel has created inclusive opportunities for individuals impacted by rare diseases to escape isolation, coming together for advocacy and fundraising through wellness initiatives. She has successfully forged relationships with hospitals, nonprofits, local running groups, and patient communities to broaden rare disease education and support.
Maureen Helgren, PhD, of Connecticut, receives a Community Champion Award for transforming rare disease education by integrating it into the core curriculum at the Frank H. Netter, MD School of Medicine at Quinnipiac University. She developed a dedicated rare disease course, founded the annual Netter Rare Disease Symposium, and consistently brings patients and advocates into the classroom so future physicians understand both the clinical and lived realities of rare conditions. Serving as faculty advisor for the university’s NORD Students for Rare® chapter, Dr. Helgren has empowered students to participate in NORD’s annual Rare Diseases and Orphan Products Breakthrough Summit® in Washington, D.C., helping reduce diagnostic delays and fostering fierce community advocacy.
Susan A. Berry, MD, of Minnesota, is the recipient of a Medical & Scientific Trailblazer Award. Her career at the University of Minnesota Medical School NORD Rare Disease Center of Excellence exemplifies excellence in advancing rare disease research, diagnosis, and treatment at scale. Her work on inborn errors of metabolism, conducted in collaboration with patient advocates like NORD member the National PKU Alliance, has defined a crucial model of care. Dr. Berry’s national impact includes serving as an advisor on newborn screening policies and an advocate for medical foods, alongside her service on NORD’s Board of Directors and Scientific & Medical Advisory Committee.
Stephen Kingsmore, MD, DSc, of California, also receives a Medical & Scientific Trailblazer Award. As the Founding President and CEO of the Rady Children’s Institute for Genomic Medicine—a NORD Rare Disease Center of Excellence—Dr. Kingsmore has pioneered whole genome sequencing, established rapid genetic testing as a routine clinical tool, and developed the first comprehensive genomic carrier screening test. Recognizing that approximately 80% of rare diseases are genetic in origin, he is currently working to integrate genetic screening and precision medicine into broader clinical settings through emerging digital platforms.
Mark Skinner, JD, of New York, is honored with the Lifetime Achievement Award for his extensive history of leadership in bleeding disorders advocacy at local, national, and global levels. He has led both the World Federation of Hemophilia and the National Bleeding Disorders Foundation, a NORD member organization, and has advised on critical blood safety matters through the U.S. Health and Human Services Advisory Committee on Blood and Tissue Safety and Availability. As a champion of patient-centered outcomes research, Skinner has ensured that patient experiences directly inform healthcare decision-making through his roles with NORD’s Board of Directors, the Institute for Clinical and Economic Review, and the Patient-Centered Outcomes Research Institute.
Paridhi Tyagi of New Jersey receives the Youth Leadership Award. During her sophomore year at Millburn High School, Tyagi founded a genetics club and subsequently partnered with NORD Students for Rare to educate her peers and local community. For Rare Disease Day 2024, she organized a library awareness display and coordinated patient story broadcasts via school announcements. Demonstrating a commitment to engaging younger audiences, she spent nearly a year establishing a collaboration with Girl Scouts USA focused on genetics and rare disease education, resulting in workshops that taught participants about inclusion, acceptance, and DNA science through hands-on activities. Her dedication was further highlighted by her attendance at the NORD Breakthrough Summit as the sole high school student among professional attendees.
Reflecting on the breadth of this year’s honorees, Pamela Gavin noted that each winner demonstrates the power inherent in individuals to drive meaningful change within their communities, whether as advocates, policymakers, scientists, or physicians. They serve as an inspiration to persevere in the shared mission to alleviate the physical, emotional, and financial strain that rare diseases impose on countless individuals and families.
The Community Champion, Policy Changemaker, Youth Leader, Lifetime Achievement, and Abbey S. Meyers Leadership Awardees will be recognized in person at the NORD Breakthrough Summit® on October 26–27 in Washington, D.C. The Scientific and Medical Trailblazer Awardees were previously honored earlier this year at the NORD® Rare Disease Scientific Symposium, while NORD CEO Pamela Gavin is personally presenting the Industry Innovation Awards to each recipient company and their staff at their respective U.S. headquarters.
Further information regarding the 2026 Rare Impact Awards can be found by visiting rareimpact.org.
About the National Organization for Rare Disorders (NORD®)
Founded in 1983, the National Organization for Rare Disorders (NORD®) is the leading independent, nonpartisan, nonprofit organization dedicated to improving the health and lives of over 30 million Americans living with rare diseases. In partnership with more than 360 disease-specific NORD member patient organizations and 49 NORD® Rare Disease Centers of Excellence spanning more than 170 medical institutions, NORD drives progress in rare disease research, care, and policy. Additional details are available at rarediseases.org.
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