Meet the Honorees

The 2024 Rare Impact Award Honorees are an extraordinary and diverse group that includes pioneers in genetic research, longstanding patient advocacy leaders, and innovative companies whose FDA-approved treatments have significantly improved rare disease patient outcomes. Each Honoree’s story is a testament to the power of rare innovation and perseverance.

Lifetime Achievement Award

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.

Abbey S. Meyers Leadership Award

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.

Policy Changemaker Award

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.

Policy Changemaker Award

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.

Medical & Scientific Trailblazer Award

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 and his leadership roles in various genetic screening programs mark his profound impact on rare disease diagnosis and treatment.

Community Champion Award

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.

Community Champion Award

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 a rare metabolic disorder.

Community Champion Award

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.

Youth Champion Award

Abigail Villarreal of Texas

Nominated as NORD’s first ever Youth Champion, Abigail Villarreal has created an annual event, “Be Rare Spirit Day,” in recognition of Rare Disease Day to increase awareness and education about rare diseases among her peers and within her community in Texas.

Industry Innovation Award Honorees

Biogen for Skyclarys®

The first treatment 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 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 to reduce the volume of extra-skeletal bone formation in adults and children with fibrodysplasia ossificans progressiva (FOP).

Pharming Healthcare, Inc for Joenja®

The first approved treatment for people affected by Activated PI3K Delta Syndrome (APDS), a rare primary immunodeficiency.

Regeneron for Veopoz®

The first and only 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 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 for patients 12 years of age or older with sickle cell disease.

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