The National Organization for Rare Disorders (NORD®) has announced its distinguished slate of honorees for the annual NORD Rare Impact Awards®. This year’s recipients span the biopharma industry, medical science, academic institutions, and patient advocacy, all recognized for their profound contributions to improving the lives of the more than 30 million Americans living with a rare disease.
The 2026 honorees include innovative companies whose breakthrough treatments have significantly altered patient outcomes, dedicated community leaders working tirelessly to raise public awareness, trailblazing scientists shaping the future of rare disease research, and policy advocates spearheading critical legislative and regulatory changes across the United States.
With approximately 95% of the more than 10,000 known rare diseases still lacking an approved treatment, advancing scientific progress remains one of the most pressing challenges in modern medicine. Pamela K. Gavin, Chief Executive Officer of NORD, emphasized the critical nature of these achievements during the announcement.
"NORD is proud to honor these companies and nonprofit organizations for pioneering new therapies and advancing research that can change what is possible for individuals and families affected by these rare diseases," said Gavin. "Their progress in addressing the unique challenges of these conditions is also contributing knowledge, approaches, and breakthroughs that help move science and the entire rare disease field forward."
Industry Innovators in Rare Disease
Among this year’s most prominent corporate and nonprofit honorees are organizations celebrated for securing recent U.S. Food and Drug Administration (FDA) approvals for first-of-their-kind therapies, bringing tangible relief and renewed hope to patient communities that have waited decades for breakthroughs.
Mighty Therapeutics is being recognized for FORZINITY™, the first-ever therapy approved for Barth syndrome. Barth syndrome is an extremely rare, progressive, and life-limiting genetic condition that impairs mitochondrial function, severely affecting muscle strength and overall quality of life. For over a decade, rare disease advocates, including NORD member the Barth Syndrome Foundation, pushed aggressively for the development of this treatment, ultimately helping to secure accelerated approval from the FDA. The arrival of FORZINITY provides profound hope not only to Barth families but also to the broader community of patients facing rare mitochondrial diseases, who view the regulatory milestone as a major leap forward for future research pathways.
UCB has earned recognition for KYGEVVI, the first and only FDA-approved treatment specifically indicated for adults and children suffering from thymidine kinase 2 deficiency (TK2d) whose symptom onset occurred at or before 12 years of age. Clinical data demonstrated that KYGEVVI reduced the risk of mortality by over 90%, with 75% of patients regaining at least one previously lost motor skill. Many patients were also able to reduce or entirely stop ventilatory support following treatment. The approval was celebrated deeply by NORD members, including the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association, all of which spent years investing heavily in foundational mitochondrial disease research.
Fondazione Telethon is being honored for Waskyra™, a groundbreaking gene therapy developed for Wiskott-Aldrich syndrome (WAS) through decades of rigorous scientific research at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy. WAS is a genetically inherited primary immunodeficiency (PI) and represents the first PI condition to receive an FDA-approved gene therapy. Furthermore, Waskyra marks a historic milestone as the first time a nonprofit organization has successfully developed and brought to market an FDA-approved gene therapy. The achievement was widely celebrated by NORD member the Immune Deficiency Foundation.
Omeros has been recognized for YARTEMLEA®, the first and only FDA-approved treatment for adults and children aged two years and older diagnosed with hematopoietic stem cell transplant-associated thrombotic microangiopathy (TA-TMA). This condition is a severe and frequently fatal complication of stem cell transplantation, stemming from endothelial cell injury that causes dangerous blood clots in small blood vessels, ultimately leading to vital organ damage. Bone marrow transplant advocacy groups and leading medical institutions specializing in transplant medicine praised the approval as a targeted and potentially life-saving advancement.
Jazz Pharmaceuticals is being honored 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. Each year, approximately 2,000 Americans and their families face this heartbreaking rare cancer diagnosis. The patient and research community spent more than a decade funding and participating in the foundational studies that made this breakthrough possible. By securing accelerated approval for a new therapeutic option in DMG, Jazz Pharmaceuticals has offered patients and their families the possibility of a new future.
Verastem Oncology is being recognized for the AVMAPKI® FAKZYNJA® CO-PACK, marking the first treatment specifically approved for adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer (LGSOC) who have previously undergone systemic therapy. This rare form of cancer has historically presented an exceptionally high unmet medical need, with fewer than 14% of patients responding to traditional chemotherapy and hormone regimens. With a documented response rate of 44%, the introduction of the co-pack, combined with routine molecular testing for KRAS mutations, is expected to establish a new standard of care for LGSOC in clinical practice.
Advocacy, Policy, and Scientific Leadership
Beyond industrial innovation, NORD is honoring the individuals and grassroots organizations dedicated to improving the daily reality for the one in 10 Americans living with a rare disorder.
The Foundation for Prader-Willi Research (FPWR) has been named the recipient of the Abbey S. Meyers Leadership Award. As a NORD member organization, FPWR leads patient-centered research initiatives focusing on Prader-Willi syndrome (PWS) through its Global PWS Registry, which was constructed using NORD’s IAMRARE® patient registry platform. Insights gathered directly from this registry played a pivotal role in last year’s FDA approval of VYKAT™ XR, the first approved treatment designed to manage excessive hunger—one of the hallmark and most challenging symptoms of PWS. This milestone represented the first known instance of data from the IAMRARE platform directly contributing to an FDA approval.
Dr. Stephanie E. Haridopolos, a board-certified family medicine physician and prominent public health official, has been awarded the Policy Changemaker Award. Having built a distinguished career spanning clinical practice and high-level government service—first as Chief of Staff of the Office of the Surgeon General and subsequently as its Director of National Health Communications—Dr. Haridopolos has been an unwavering advocate for rare disease patients. Most notably, she helped facilitate the U.S. Department of Health and Human Services’ decision to add Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Newborn Screening Panel (RUSP). Since May of 2026, Dr. Haridopolos has also performed the interim duties of the Surgeon General.
Dr. Julieta Bonvin Sallago of Connecticut is the recipient of 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 while working in clinical trial recruitment at Connecticut Children’s Hospital for the Glycogen Storage Disease Program—the exact family of disorders for which she received her own diagnosis. Leveraging her scientific expertise and cultural background, she has emerged as a leader in NORD’s volunteer community, supporting the planning and execution of Latino patient and family listening sessions, translating NORD Rare Disease Reports into Spanish, and serving on the advisory committee for the NORD® Living Rare Study.
Lily Emmanuel of Colorado has also been honored with a Community Champion Award. A passionate advocate and volunteer leader, Emmanuel works to expand rare disease awareness and foster community connections across the western United States. Through her leadership with NORD Running for Rare® in Colorado, she has created inclusive opportunities for individuals impacted by rare disorders to combat isolation and engage in collective advocacy and fundraising through wellness initiatives. By forging strong relationships with local hospitals, nonprofit groups, and running organizations, she has successfully expanded rare disease education and inspired others to join the cause.
Dr. Maureen Helgren of Connecticut has received a Community Champion Award for her transformative work in medical education. Dr. Helgren integrated rare disease education into the core curriculum at the Frank H. Netter, MD School of Medicine at Quinnipiac University, where she developed a dedicated rare disease course and founded the annual Netter Rare Disease Symposium. By consistently inviting patients and advocates into the classroom, she ensures future physicians understand both the clinical realities and the lived experiences of rare conditions. She also serves as the faculty advisor for the university’s NORD Students for Rare® chapter, mentoring students and facilitating their participation in the annual NORD Rare Diseases and Orphan Products Breakthrough Summit®.
Dr. Susan A. Berry of Minnesota is a recipient of the Medical & Scientific Trailblazer Award. Her distinguished career at the University of Minnesota Medical School NORD Rare Disease Center of Excellence exemplifies excellence in advancing rare disease research, diagnosis, and specialized care. Her extensive work concerning inborn errors of metabolism, conducted in close collaboration with advocacy organizations such as the National PKU Alliance, has established a vital model of care for affected families. Beyond her clinical practice, Dr. Berry has served as an advisor on national newborn screening policies and medical foods, and she actively contributes her expertise to NORD’s Board of Directors and Scientific & Medical Advisory Committee.
Dr. Stephen Kingsmore of California has also received 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 the clinical application of whole genome sequencing, established rapid genetic testing as a standard diagnostic tool, and developed the first comprehensive genomic carrier screening test. Given that approximately 80% of rare diseases are genetic in origin, his ongoing work to integrate genetic screening and precision medicine into broader clinical settings through emerging digital platforms continues to transform rare disease medicine nationwide.
Mark Skinner, JD, of New York is the recipient of the Lifetime Achievement Award. Skinner is recognized for his extensive, decades-long history of leadership in bleeding disorders advocacy at the state, national, and global levels. He has previously led the World Federation of Hemophilia and the National Bleeding Disorders Foundation, a NORD member organization, and has advised federal authorities on vital blood safety and supply matters through the U.S. HHS Advisory Committee on Blood and Tissue Safety and Availability. As a champion of patient-centered outcomes research and principal investigator for the international PROBE study, Skinner has consistently ensured that the direct experiences of patients inform healthcare policy and decision-making.
Paridhi Tyagi of New Jersey has been honored with the Youth Leadership Award. During her sophomore year at Millburn High School, Tyagi founded a student genetics club and partnered with NORD Students for Rare to educate her peers and local community on genetic conditions. For Rare Disease Day, she organized public awareness displays and coordinated the sharing of patient narratives over school morning announcements. Recognizing the importance of engaging younger demographics, she spent nearly a year establishing a collaboration with Girl Scouts USA focused on genetics and rare disease education, leading interactive workshops that taught younger participants about inclusion, scientific inquiry, and DNA extraction. Her advocacy efforts culminated in her attendance at the NORD Breakthrough Summit as a high school student participating alongside professional researchers and clinicians.
"Each of these 2026 Rare Impact Award winners demonstrates the power we each have as individuals to drive change in our communities, whether that’s as an advocate, policymaker, scientist, or physician," Gavin reflected. "They inspire us all to persevere in our shared mission to alleviate the physical, emotional, and financial strain that rare diseases place on too many individuals and families."
The Community Champion, Policy Changemaker, Youth Leader, Lifetime Achievement, and Abbey S. Meyers Leadership Awardees will be formally recognized in person at the upcoming NORD Breakthrough Summit® in Washington, D.C. The Scientific and Medical Trailblazer Awardees were previously honored at the NORD® Rare Disease Scientific Symposium, while NORD CEO Pamela Gavin continues to present the Industry Innovation Awards directly to recipient companies and their staff at their respective U.S. headquarters.
Founded in 1983, the National Organization for Rare Disorders (NORD®) remains the leading independent, nonpartisan nonprofit organization dedicated to improving the health and well-being of the more than 30 million Americans living with rare diseases. Collaborating with over 360 disease-specific member organizations and 49 NORD Rare Disease Centers of Excellence across more than 170 medical institutions, NORD continues to drive meaningful progress in rare disease research, clinical care, and public policy.
