The National Organization for Rare Disorders (NORD) will honor a distinguished group of individuals and industry leaders for their contributions to help improve the lives of more than 30 million Americans with a rare disease at the annual Rare Impact Awards. NBC News Chief White House Correspondent Peter Alexander will reprise his role as host and emcee at this year’s event, which will take place on June 8 in Universal City, California at 6:00 p.m. PDT.
“This year, we are thrilled to celebrate with the West Coast rare disease community for the first time, and to acknowledge the monumental strides made by our honorees and industry innovators, including our first Youth Champion Award,” says Peter L. Saltonstall, President and CEO of NORD. “Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care.”
The awards ceremony, to be held at Universal Studios Hollywood immediately following NORD’s signature patient and family conference, the Living Rare, Living Stronger NORD Patient and Family Forum, will spotlight the exceptional contributions of rare disease advocates, researchers, healthcare professionals, and companies. The honorees are an extraordinary group that includes pioneers in genetic research, patient advocacy leaders, and innovative companies whose FDA-approved treatments have significantly improved patient outcomes. Each honoree’s story is a testament to the power of innovation and perseverance.
Emcee Peter Alexander regularly reports on the deeply personal story of his sister Rebecca, who has Usher Syndrome, type III — the leading genetic cause of progressive deaf-blindness: “I am honored to emcee the Rare Impact Awards again this year,” says Alexander. “Having witnessed my sister’s journey, I know the challenges rare disease families face are not just physical but also emotional, mental, and financial. This community’s strength is inspiring, and I look forward to meeting this year’s honorees and celebrating their hard-earned triumphs.”
Tickets for the Rare Impact Awards are available at rareimpact.org.
Rare Impact Award Recipients
- Yann Le Cam: Lifetime Achievement Award recipient, Yann Le Cam, is celebrated for his three-decade-long history of advocacy in rare diseases, significantly impacting European regulations and global rare disease policy through his leadership at EURORDIS-Rare Diseases Europe.
- The Hemophilia Foundation of Southern California (HFSC): Winner of the Abbey S. Meyers Leadership Award, the HFSC has been pivotal in providing comprehensive support and fostering substantial community engagement among the Spanish-speaking population affected by bleeding disorders.
- The Honorable Gus M. Bilirakis of Florida: Recognized with the Policy Changemaker Award for his unwavering support in the U.S. House of Representatives, Representative Bilirakis (FL-12) is honored for championing multiple pieces of critical legislation that enhance access to treatments and support the rare disease community.
- The Honorable Liz Reyer of Minnesota: Also a Policy Changemaker Award recipient, Representative Reyer (MN-52A) is honored for her significant contributions to the rare disease community in Minnesota, including her efforts in establishing and serving on the Minnesota Rare Disease Advisory Council.
- Dr. Jose Abdenur of California: Recognized as a Medical & Scientific Trailblazer, Dr. Abdenur’s extensive work in metabolic disorders at California’s CHOC Children’s Hospital, a NORD Rare Disease Center of Excellence, and his leadership roles in various genetic screening programs mark his profound impact on rare disease diagnosis and treatment.
- Jana Monaco of Virginia: A Community Champion honoree, Jana Monaco’s experience with her children—a son diagnosed with isovaleric acidemia as a toddler and a daughter diagnosed with the same condition in utero—led her to years of advocacy that influenced newborn screening policies, significantly impacting early diagnosis and treatment of rare diseases in Virginia.
- Irfan Patel of Delaware: Recognized as a Community Champion, Irfan Patel’s dedication to enhancing awareness and support for rare disease communities in Delaware through legislative advocacy and community engagement was inspired by two of his children who are living with methylmalonic acidemia, a rare metabolic disorder.
- Darlene Shelton of Missouri: Another Community Champion honoree, Darlene Shelton of Missouri, has spearheaded initiatives to reform state and national emergency medical protocols for individuals with special medical needs through her nonprofit, Danny’s Dose, named in honor of her grandson who has hemophilia.
- Abigail Villarreal of Texas: Nominated as NORD’s first ever Youth Champion, Abigail Villarreal has created an annual event, “Be Rare Spirt Day,” in recognition of Rare Disease Day to increase awareness and education about rare diseases among her peers in high school and within her community in Texas.
Industry Innovators
In addition to the individual award recipients, the Rare Impact Awards are also honoring companies that have developed treatments changing the lives of those with rare diseases. These innovative companies include:
- Biogen for Skyclarys®: The first treatment approved to improve neurological function and slow disease progression in those living with Friedreich’s ataxia, a rare progressive neurogenetic disease.
- BioMarin for Roctavian™: The first gene therapy approved for adults with severe hemophilia A, reducing the need for ongoing routine therapy.
- Chiesi Global Rare Diseases for Lamzede®: The first enzyme replacement therapy approved in the U.S. for the treatment of non-central nervous system manifestations of alpha-mannosidosis in adults and pediatric patients.
- Ipsen Biopharmaceuticals for Sohonos™: An oral medication that is the first treatment approved to reduce the volume of extra-skeletal bone formation in adults and children with fibrodysplasia ossificans progressiva (FOP).
- Pharming for Joenja®: The first approved treatment for people affected by Activated PI3K Delta Syndrome (APDS), a rare primary immunodeficiency.
- Regeneron Pharmaceuticals for Veopoz™: The first and only approved treatment indicated specifically for CHAPLE disease, a rare hereditary immune disease.
- SpringWorks Therapeutics for Ogsiveo™: The first approved treatment for adults with progressing desmoid tumors who require systemic treatment.
- Travere Therapeutics for Filspari™: The first and only non-immunosuppressive therapy approved to reduce proteinuria in adults with primary IgA nephropathy (IgAN) at risk of rapid disease progression.
- Vertex Pharmaceuticals for Casgevy™: A groundbreaking genome editing therapy approved for patients 12 years of age or older with sickle cell disease.
Attendees of the Rare Impact Awards are also invited to attend the Living Rare, Living Stronger NORD Patient and Family Forum earlier that day, which offers educational programming designed to help patients, families, and caregivers navigate the complexities of living with a rare disease. Registration information can be found at livingrare.org.
Learn more about NORD’s 2024 Rare Impact Awards and purchase tickets here.
