The National Organization for Rare Disorders (NORD) 2017 Rare Impact Award winners were announced today and it is a great list of people who are all having an incredible impact on the rare disease community. The awards will be handed on May 18 at a special dinner and fundraiser in Washington, D.C.
The 2017 honorees are listed below.
Ellie was diagnosed with leukodystrophy (LBSL), a neurodegenerative mitochondrial disease in 2001. Her family created the ‘A Cure for Ellie’ organization to educated doctors about this little known disease so that other families will not go through the plethora of doctor appointments seaking a diagnosis that they went through.
Ellie and her family have teamed up with the John Hopkins University School of Medicine to address the lack of knowledge and understanding associated with LBSL.
Chrissy Grube was the first Giant Axon Neuropathy patient to receive gene therapy for the rare, neurological condition. Sadly, Chrissy passed away unexpectedly on February 6, 2016 from complications following scoliosis surgery. She was 10 years old.
Brandon was a college runner with Olympic aspirations that unfortunately were cut short when he developed Wegener’s granulmatosis, a rare autoimmune disease. After several years of therapy, he was strong enough to participate in the U.S. Olympic trials in 2016. He continues to run and do public speaking events.
Matthew Might, Ph.D.
Matthew’s son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency. There are now 8 people in the world known to have this condition. By documenting his experiences, he is helping other families find ways to get a diagnosis as well.
Beth Nguyen, R.N.
Beth has syringomyelia, a rare disease in which cysts form inside the spinal cord leading to a plethora of deliberating symptoms.
In the interview below, Ms Nguyen talks about the advocacy group she co-founded, the Worldwide Syringomyelia & Chiari Task Force and its goals to educate clinicians about this condition and help patients manage their condition (and find a cure).
Dr Desnick is Dean for Genetics and Genomic Medicine at Mount Sinai Hospital in New York. His research in Batten disease, Fabry disease, Gaucher disease, Niemann-Pick disease and other rare conditions have dramatically changed our understanding of these conditions and how they are managed.
Frederick Kaplan, M.D.
Dr Kaplan, Chief of the Division of Molecular Orthopaedic Medicine at the University of Pennsylvania School of Medicine in Philadelphia led a team that discovered the genetic cause of fibrodysplasia ossificans progressiva (FOP), a rare and disabling disorder in which the body forms a second skeleton.
Cynthia Tifft, M.D.
Dr Tifft is Deputy Clinical Director at the National Human Genome Research Institute at the NIH study the natural history of glycosphingolipid storage disorders. Dr Tiffis is also Director of the Pediatric Undiagnosed Diseases Program at the NIH where she helps families find medical answers they are not finding elsewhere.
Representative Diana DeGette (D-CO)
Representative DeGette co-authored the 21st Century Cures Act that got passed into law in 2016. She had long been a great supporter of the rare disease community.
Senator Johnny Isakson (R-GA)
Senator Isakson was instrumental in extending the Rare Pediatric Priority Review Voucher Program in 2016 so that companies, especially small biotech companies, have an additional incentive to develop drugs for rare pediatric populations.
A Twist of Fate (ATS)
ATS is a nonprofit patient organization serving the Arterial Tortuosity Syndrome community.
At the 2016 NORD Breakthrough Summit, we spoke with Andrea Taylor, President/Founder of A Twist of Fate-ATS about advocating the rare disease, current and upcoming research projects along with their patient registry.
Advanced Accelerator Applications USA, Biogen, CSL Behring, Intercept Pharmaceuticals, Jazz Pharmaceuticals, and Sarepta Therapeutics will also be receiving Impact Awards.
The evening will include musical entertainment by Gaelynn Lea.
More than 350 distinguished guests are expected to attend.
Rare Disease Report is a proud media partner for the event.