The National Organization for Rare Disorders (NORD®) is honoring a distinguished group of biopharma industry leaders, medical scientists, and patient advocates for their contributions to improving the lives of the more than 30 million Americans living with a rare disease through its annual NORD Rare Impact Awards®.
The 2026 honorees include innovative companies whose treatments have significantly improved rare disease patient outcomes, community leaders raising awareness of rare disease, trailblazing scientists in rare disease research, and advocates spearheading legislative change in their states.
Industry Innovators in Rare Disease
Among this year’s honorees are five companies and one nonprofit — alongside impacted rare disease patient communities — celebrated recent U.S. Food and Drug Administration (FDA) approvals for first-of-their-kind rare disease therapies.
“With approximately 95% of more than 10,000 known rare diseases still lacking an approved treatment, advancing scientific progress is critical,” said Pamela K. Gavin, NORD Chief Executive Officer. “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. 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.”
The 2026 Industry Innovator honorees are:
Mighty Therapeutics for FORZINITY™, the first therapy for Barth syndrome — a very rare, progressive, and life-limiting genetic disease affecting mitochondria — shown to improve muscle strength and quality of life. Barth syndrome advocates, such as NORD Member the Barth Syndrome Foundation, pushed for its development for over a decade and helped secure accelerated approval. FORZINITY brings hope not only to Barth families but also to others facing rare mitochondrial diseases who lauded its approval as a major step forward for advancing research and regulatory pathways.
UCB for KYGEVVI, the first and only FDA-approved treatment for adults and children with thymidine kinase 2 deficiency (TK2d) whose symptoms began at or before 12 years of age. KYGEVVI was shown to reduce the risk of death by over 90%, with 75% of these patients regaining at least one previously lost motor skill and many reducing or stopping ventilatory support. Its approval was celebrated by NORD Members the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association, who spent years investing in mitochondrial disease research.
Fondazione Telethon for Waskyra™, a breakthrough gene therapy for Wiskott-Aldrich syndrome (WAS) developed through decades of 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 the first PI to receive an FDA-approved gene therapy. Waskyra also represents the first time a nonprofit organization has developed and brought to market an FDA-approved gene therapy. The approval was celebrated by NORD Member the Immune Deficiency Foundation.
Omeros for YARTEMLEA®, the first and only FDA-approved treatment for adults and children 2 years and older with hematopoietic stem cell transplant–associated thrombotic microangiopathy (TA-TMA), a significant and often fatal complication of stem cell transplantation. TA-TMA results from endothelial cell injury, which causes blood clots in small blood vessels that can damage vital organs. Bone marrow transplant advocacy groups and medical institutions specializing in the procedure lauded the approval of YARTEMLEA® as a targeted and potentially life-saving therapy.
Jazz Pharmaceuticals for MODEYSO™, the first and only FDA-approved treatment for one of the most aggressive brain tumors impacting children and young adults, recurrent H3K27M-mutant diffuse midline glioma (DMG). Every year, about 2,000 Americans and their families receive this devastating rare cancer diagnosis. Their community spent more than a decade funding and participating in foundational research that made this breakthrough possible. By securing accelerated approval for a new treatment for H3K27M-mutant diffuse midline glioma (DMG), Jazz Pharmaceuticals has given patients and families the possibility of a new future.
Verastem Oncology for AVMAPKI® FAKZYNJA® CO-PACK, the first treatment specifically approved for adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer (LGSOC) who have received prior systemic therapy. This rare cancer has a very high unmet need, with less than 14% of patients responding to traditional chemotherapy and hormone therapy. With a response rate of 44%, administration of AVMAPKI FAKZYNJA CO-PACK and routine molecular testing for KRAS are expected to become the new standard of care for LGSOC in the near future.
NORD is also proud to recognize individuals and organizations dedicated to advocating and improving life for the one in 10 Americans living with a rare disorder.
This year, those honorees include:
Foundation for Prader-Willi Research (FPWR), recipient of the Abbey S. Meyers Leadership Award. FPWR, a NORD Member, leads patient-centered research into Prader-Willi syndrome (PWS) through its Global PWS Registry, which was built on NORD’s IAMRARE® patient registry platform. Insights from this registry contributed to last year’s FDA approval of VYKAT™ XR, the first approved treatment to address excessive hunger in adults and children with PWS — one of the disorder’s hallmark symptoms and challenges. This milestone represented the first known instance of IAMRARE data directly contributing to an FDA approval.
Stephanie E. Haridopolos, MD, DABFM, recipient of the Policy Changemaker Award. A board-certified family medicine physician and prominent public health official, Dr. Haridopolos has built a career spanning both clinical practice and high-level government service. First as Chief of Staff of the Office of the Surgeon General, and now as its Director of National Health Communications, Dr. Haridopolos has been a critical voice for rare disease patients. Most notably, she helped facilitate the Department of Health and Human Services’ addition of Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Newborn Screening Panel (RUSP) last December. Since May of 2026, Dr. Haridopolos has performed the interim duties of the Surgeon General in the absence of a Senate-confirmed nominee.
Julieta Bonvin Sallago, MD of Connecticut, recipient of a Community Champion Award. Julieta is an international medical graduate who lives with a rare disease herself and 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 same family of disorders for which she was diagnosed. Julieta has leveraged her scientific and cultural expertise to become a leader in NORD’s volunteer community. She supported the planning and execution of NORD’s Latino patient and family listening sessions and helps translate NORD Rare Disease Reports into Spanish. She also serves on the advisory committee for the NORD® Living Rare Study, for which she has been instrumental in recruiting Spanish-speaking participants.
Lily Emmanuel of Colorado, recipient of a Community Champion Award. Lily is a passionate advocate and volunteer leader working to expand rare disease awareness and strengthen community connections across the western United States. Through her leadership with NORD Running for Rare® in Colorado, Lily has created inclusive opportunities for people impacted by rare diseases to escape isolation and come together to engage in advocacy and fundraising through fitness and wellness initiatives. She has forged relationships with hospitals, nonprofit organizations, local running groups, and patient communities to expand rare disease education and support, inspiring many others along the way to follow in her footsteps.
Maureen Helgren, PhD of Connecticut, recipient of a Community Champion Award. Dr. Helgren has transformed 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 to ensure future physicians understand both the clinical and lived experiences of rare diseases. She serves as the faculty advisor for Quinnipiac University’s NORD Students for Rare® chapter, which fosters rare disease advocacy among students from high school through medical school, and has enabled her students to participate in NORD’s annual Rare Diseases and Orphan Products Breakthrough Summit® in Washington, D.C. Through her mentorship and commitment to patient-centered education, Dr. Helgren is reducing diagnostic delays and helping ensure future physicians don’t just recognize rare diseases as part of clinical practice but also advocate fiercely for the rare disease community.
Susan A. Berry, MD of Minnesota, recipient of a Medical & Scientific Trailblazer Award. Dr. Berry’s career at the University of Minnesota Medical School NORD Rare Disease Center of Excellence exemplifies what it means to advance rare disease research, diagnosis, and treatment at scale. Her work on inborn errors of metabolism, developed in collaboration with patient advocates like NORD Member the National PKU Alliance, has defined a model of care where one was desperately needed. Dr. Berry’s impact extends far beyond her Minnesota clinic. She has served as an advisor on newborn screening policies and an advocate for medical foods and formulas nationally. She also serves on NORD’s Board of Directors and Scientific & Medical Advisory Committee.
Stephen Kingsmore, MD, DSc of California, recipient of a Medical & Scientific Trailblazer Award. The Founding President and CEO of 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 clinical tool, and developed the first comprehensive genomic carrier screening test — all while serving as a key mentor for his clinical colleagues. Each of these achievements has been transformative for rare disease medicine nationwide. Understanding that approximately 80% of rare diseases are genetic in origin, Dr. Kingsmore is currently working to bring genetic screening and precision medicine to more clinics through emerging digital platforms.
Mark Skinner, JD of New York, recipient of the Lifetime Achievement Award. Mark Skinner is honored for his long history of leadership in advocacy for bleeding disorders in New York, nationally, and worldwide. He has led the World Federation of Hemophilia as well as the National Bleeding Disorders Foundation, a NORD Member organization, and has held numerous roles as an advisor on critical blood safety and supply matters including serving on 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 Patient Reported Outcomes Burdens and Experiences (PROBE) study, Skinner is helping to ensure the experiences and needs of patients directly inform health care decision-making. Through his service on NORD’s Board of Directors as well as the board of the Institute for Clinical and Economic Review (ICER) and, formerly, the Patient Centered Outcomes Research Institute (PCORI) Advisory Panel on Rare Disease, Skinner has elevated patient voices not only for bleeding disorders but across all rare diseases.
Paridhi Tyagi of New Jersey, recipient of the Youth Leadership Award. Paridhi founded a genetics club at Millburn High School in her sophomore year and has since partnered with NORD Students for Rare to educate her peers and local community about rare diseases and genetic conditions. For Rare Disease Day 2024, she organized an awareness display at her local library and coordinated the sharing of patient stories through her school’s morning announcements. Recognizing the importance of engaging younger audiences, Pari spent nearly a year establishing a collaboration with Girl Scouts USA focused on genetics and rare disease education. This resulted in three workshops for Girl Scouts in 2025 where she taught participants about inclusion and acceptance of those with rare diseases as well as the science behind genetics through hands-on activities such as DNA extraction and modeling. Her efforts have inspired other young people to get involved in rare disease advocacy, education, and STEM-related fields. Pari’s dedication was best demonstrated by her attendance at the NORD Breakthrough Summit, where she stood out as the only high school student participating in opportunities typically reserved for professionals 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 said. “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 NORD Breakthrough Summit® on Oct. 26-27 in Washington, D.C. The Scientific and Medical Trailblazer Awardees were recognized earlier this year at the NORD® Rare Disease Scientific Symposium, and NORD CEO Pamela Gavin is presenting the Industry Innovation Awards to each recipient company and their staff at their U.S. headquarters.
Learn more about the 2026 Rare Impact Awards at 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. Learn more at rarediseases.org.
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