NORD to celebrate 40th anniversary with rare disease awards

Advocacy group founded in 1983 for rare disorders like AADC deficiency

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by Mary Chapman |

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At a May 4 awards ceremony that will also mark the anniversary of its 1983 founding, the National Organization for Rare Disorders (NORD) will honor a group of rare disease innovators, advocates, and partners.

This year’s Rare Impact Awards, presented at the Smithsonian National Portrait Gallery, in Washington, D.C., will include NORD’s 40th anniversary celebration. The organization works to support those with rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, through advocacy, research funding, and education.

“Forty years ago, a courageous group of rare disease advocates came together to create NORD and ignite a movement that is working to improve lives for the 25 million Americans who live with rare diseases,” Peter L. Saltonstall, NORD’s president and CEO, said in a press release.

“This year’s winners of the Rare Impact Awards reflect the pioneering spirit of our founders — each of them using their passion and talent to achieve the vision of a world where every person with a rare disease can lead their best lives,” Saltonstall added.

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Each award recipient is being honored for having made unique and significant contributions that helped advance rare disease care, research, and advocacy.

  • Abbey S. Meyers, PhD, helped found NORD after working with other rare disease patient advocates to get U.S. lawmakers to pass the landmark Orphan Drug Act.
  • U.S. Rep. Jaime Herrera Beutler, whose daughter was born without kidneys — a rare condition — has worked for many years to help get funding for rare disease treatments.
  • Bernie Williams, the former New York Yankees centerfielder, has been a longtime advocate for rare diseases, including pulmonary fibrosis, from which his father died in 2001.
  • Ada Hamosh, MD, a pioneering clinical geneticist at Johns Hopkins School of Medicine, co-developed a web-based tool called PhenoDB, for collecting, storing, and analyzing standardized genetic and clinical data, as well as GeneMatcher, a website that connects clinicians and researchers who are studying the same gene.
  • Shannon Killebrew, herself a rare disease patient, is the founder of a national advocacy group for homebound patients, called Shannon’s Hope for House Calls and Home Medical Care.
  • Phillip Maderia is the founder of NORD’s signature Running for Rare fundraiser, which has generated more than $2 million through running events since its creation.

Another honoree this year is the Alliance to Cure Cavernous Malformation, which supports those with the rare disorder of the same name, marked by abnormal blood vessels in the brain or spinal cord. Led by Connie Lee, whose daughter had cavernous malformation, the nonprofit has developed a network of Centers of Excellence to enable clinical trials for the condition.  

The ceremony also will honor six biopharmaceutical companies for developing treatments that were approved last year for rare disorders, among them therapies for the neurodegenerative disease cerebral adrenoleukodystrophy and the bleeding disorder hemophilia B.

Tickets to the Real Impact Award ceremony are available on NORD’s website, at a cost of $300 for individuals and nonprofits, and $1,000 for industry representatives.

NORD is one of the driving forces behind the annual Rare Disease Day, held on Feb. 28. That day and Rare Disease Week, which runs through March 2, calls attention to the more than 7,000 rare disorders that together affect millions of patients worldwide.

To mark the event, AADC News columnist Richard E. Poulin III shared the story of his daughter Rylae-Ann, who has AADC deficiency and received the gene therapy Upstaza (eladocagene exuparvovec) in 2019 within a clinical trial.

Upstaza was approved in the European Union and in the U.K. as the first disease-modifying therapy for AADC deficiency. A regulatory application seeking approval of the treatment in the U.S. is expected to be filed later this year.

The therapy, developed by PTC Therapeutics, uses a harmless and modified virus to deliver to cells a working copy of DDC — the gene mutated in AADC deficiency — which is expected to prevent or slow disease progression.