The National Organization for Rare Disorders (NORD®) has officially announced its distinguished lineup of honorees for the annual NORD Rare Impact Awards®. This year’s recipients comprise a remarkable cross-section of biopharma industry leaders, pioneering medical scientists, dedicated community champions, and passionate patient advocates. Together, these individuals and organizations are being recognized for their extraordinary contributions toward improving the lives of the more than 30 million Americans who are currently living with a rare disease.
The 2026 honorees spotlight a diverse range of breakthroughs, including innovative companies that have recently brought first-of-their-kind treatments to market, grassroots community leaders raising vital awareness, trailblazing researchers reshaping clinical possibilities, and public health advocates spearheading legislative and policy change at state and national levels.
Industry Innovators in Rare Disease
At the heart of this year’s celebrations are five private companies and one nonprofit organization—working hand-in-hand with impacted rare disease patient communities—that have achieved recent U.S. Food and Drug Administration (FDA) approvals for groundbreaking, 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 one of the greatest challenges in modern medicine. Pamela K. Gavin, NORD Chief Executive Officer, emphasized the profound significance of these industry milestones.
"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."
Among the 2026 Industry Innovator honorees is Mighty Therapeutics, recognized for FORZINITY™, the first-ever therapy approved for Barth syndrome. Barth syndrome is a very rare, progressive, and life-limiting genetic disease affecting the mitochondria, and the new treatment has been shown to improve muscle strength and overall quality of life. Barth syndrome advocates, including NORD member organization the Barth Syndrome Foundation, championed its development for over more than a decade and played a critical role in securing accelerated approval. The introduction of FORZINITY brings profound hope not only to Barth families but also to the broader community of patients facing rare mitochondrial diseases, who have lauded the approval as a major step forward for scientific research and regulatory pathways.
Another notable industry honoree is UCB, recognized 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 has shown that KYGEVVI reduces the risk of death by over 90%, with 75% of patients regaining at least one previously lost motor skill and many successfully reducing or eliminating their reliance on ventilatory support. This milestone was enthusiastically celebrated by NORD member organizations 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 has also been named an honoree for Waskyra™, a breakthrough gene therapy designed 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 primary immunodeficiency (PI) and stands as 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 approval received widespread celebration from NORD member the Immune Deficiency Foundation.
Omeros was honored for YARTEMLEA®, the first and only FDA-approved treatment for adults and children two years of age and older suffering from hematopoietic stem cell transplant–associated thrombotic microangiopathy (TA-TMA). This severe and frequently fatal complication of stem cell transplantation arises from endothelial cell injury, triggering blood clots in small blood vessels that can cause catastrophic damage to vital organs. Bone marrow transplant advocacy groups and medical institutions specializing in the procedure have praised the approval of YARTEMLEA® as a targeted and potentially life-saving therapeutic option.
Jazz Pharmaceuticals earned recognition 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, roughly 2,000 Americans and their families receive this heartbreaking rare cancer diagnosis. The patient community spent more than a decade funding and actively participating in the foundational research that ultimately made this breakthrough possible. By securing accelerated approval for a new treatment targeting H3K27M-mutant DMG, Jazz Pharmaceuticals has offered patients and families the possibility of a new future.
Rounding out the industry innovator class is Verastem Oncology, honored for the AVMAPKI® FAKZYNJA® CO-PACK. This therapeutic combination represents the first treatment specifically approved for adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer (LGSOC) who have previously received systemic therapy. This rare cancer has historically faced an exceptionally high unmet medical need, with fewer than 14% of patients responding to traditional chemotherapy and hormone therapy. With a demonstrated clinical response rate of 44%, the administration of the AVMAPKI FAKZYNJA CO-PACK, coupled with routine molecular testing for KRAS, is widely expected to establish a new standard of care for LGSOC in the near future.
Celebrating Leadership, Policy, and Community Champions
Beyond industrial advancements, NORD is honoring the individuals and grassroots organizations dedicated to improving daily life 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 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 harvested directly from this registry contributed directly to the FDA approval of VYKAT™ XR, the first approved treatment addressing excessive hunger—one of the hallmark symptoms and daily challenges 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, MD, DABFM, is the recipient of the Policy Changemaker Award. A board-certified family medicine physician and prominent public health official, Dr. Haridopolos has cultivated a 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 an influential 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.
Community Champion Awards have been presented to three exceptional advocates:
Dr. Julieta Bonvin Sallago, MD, an international medical graduate based in Connecticut who lives with a rare disease herself, is pursuing a career as a genetic counselor in the United States. She works 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. Dr. Sallago has leveraged her scientific and cultural expertise to become a leader in NORD’s volunteer community, supporting the planning and execution of Latino patient and family listening sessions and helping translate NORD Rare Disease Reports into Spanish. She also serves on the advisory committee for the NORD® Living Rare Study, playing an instrumental role in recruiting Spanish-speaking participants.
Lily Emmanuel of Colorado is recognized for her passionate advocacy and volunteer leadership aimed at expanding rare disease awareness and strengthening community networks 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 disorders to escape isolation, engage in advocacy, and participate in fundraising through fitness and wellness initiatives. She has forged durable relationships with hospitals, nonprofit organizations, local running groups, and patient communities to expand rare disease education and support.
Dr. Maureen Helgren, PhD, of Connecticut, has transformed rare disease education by integrating it directly 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 to ensure future physicians understand both the clinical and lived realities of rare conditions. Serving as the faculty advisor for Quinnipiac University’s NORD Students for Rare® chapter, Dr. Helgren enables 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 advocacy among the next generation of doctors.
Medical & Scientific Trailblazer Awards have been bestowed upon two prominent clinical leaders:
Dr. Susan A. Berry, MD, of Minnesota, whose career at the University of Minnesota Medical School NORD Rare Disease Center of Excellence exemplifies excellence in rare disease research, diagnosis, and treatment at scale. Her work on inborn errors of metabolism, developed in conjunction with patient advocates like the National PKU Alliance, has defined a crucial model of clinical care. Beyond her Minnesota clinic, Dr. Berry has served as an advisor on newborn screening policies and a national advocate for medical foods and formulas. She also serves on NORD’s Board of Directors and its Scientific & Medical Advisory Committee.
Dr. Stephen Kingsmore, MD, DSc, of California, serves 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 standard clinical tool, and developed the first comprehensive genomic carrier screening test while mentoring clinical colleagues. Recognizing that approximately 80% of rare diseases are genetic in origin, Dr. Kingsmore is actively working to bring genetic screening and precision medicine to more clinics through emerging digital platforms.
The Lifetime Achievement Award has been presented to Mark Skinner, JD, of New York, in recognition of his extensive history of leadership in bleeding disorders advocacy at state, national, and global levels. Skinner 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 and supply matters through the U.S. Health and Human Services Advisory Committee on Blood and Tissue Safety and Availability. A champion of patient-centered outcomes research and principal investigator for the international PROBE study, Skinner ensures that patient experiences directly guide healthcare decision-making. He has also served on NORD’s Board of Directors, the board of the Institute for Clinical and Economic Review, and the Patient-Centered Outcomes Research Institute Advisory Panel on Rare Disease.
Paridhi Tyagi of New Jersey has been honored with the Youth Leadership Award. During her sophomore year, Tyagi founded a genetics club at Millburn High School and partnered with NORD Students for Rare to educate peers and her local community. For Rare Disease Day 2024, she organized an awareness display at her local library and coordinated patient story broadcasts over her school’s morning announcements. Recognizing the importance of engaging younger audiences, Tyagi spent nearly a year establishing a collaboration with Girl Scouts USA focused on genetics and rare disease education, leading three workshops in 2025 that taught participants about inclusion, acceptance, and the science of genetics through hands-on activities such as DNA extraction. Her dedication was further underscored by her attendance at the NORD Breakthrough Summit, where she participated alongside professional leaders in the field.
"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 recognized in person at the upcoming 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 presenting the Industry Innovation Awards directly to each recipient company and their staff at their respective U.S. headquarters.
Additional details regarding the 2026 Rare Impact Awards can be found at rareimpact.org.
