The National Organization for Rare Disorders (NORD) will honor CHOC physician and researcher Dr. Jose Abdenur as a “Medical & Scientific Trailblazer” at its annual Rare Impact Awards in Universal City this week.
Dr. Abdenur, an expert in genetics and metabolism and a leading authority on rare childhood diseases, is being recognized June 8 for his extensive work in metabolic disorders and his leadership roles in various genetic screening programs that have made a “profound impact” on rare disease diagnosis and treatment, NORD said.
CHOC, in partnership with UCI Health, is a designated NORD Rare Disease Center of Excellence.
Dr. Abdenur is chief of the division of metabolic disorders at CHOC and director of CHOC’s metabolic laboratory, one of only a few such laboratories in the United States. He will be one of nine people receiving a Rare Impact Award at NORD’s evening gala at Universal Studios.
“It is a great honor to receive this award from NORD,” Dr. Abdenur said. “I am humbled to be honored alongside so many outstanding people that are advocating for patients and families with rare diseases.”
Dr. Abdenur has been working in rare diseases for over 40 years, in different countries and in different capacities.
“At each step of the way,” he said, “I’ve learned from medical texts, journals and colleagues, but I have also learned from my patients and families, and I’m thankful to all of them.
“I have been blessed to work with an amazing group of people at CHOC: a team of clinicians, researchers, laboratory personnel and teachers who work tirelessly and with selfless commitment to the cause of rare diseases. Everything that we do is a team effort.”
Added Dr. Abdenur: “I’m grateful to CHOC, especially to the research administration, for its unwavering support. Most importantly, I want to thank my family who have encouraged me throughout my career. I could not have done it without them.”
Improving the lives of millions
In addition to the nine individual award recipients, Rare Impact Awards will also be handed out to nine companies that have developed treatments that have changed the lives of those with rare diseases.
Together, the contributions of these individuals and companies have helped improve the lives of more than 30 million Americans with a rare disease, according to NORD.
“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 will be held immediately after NORD’s patient and family conference, the Living Rare, Living Stronger NORD Patient and Family Forum, which will spotlight the exceptional contributions of rare disease advocates, researchers, healthcare professionals, and companies.
CHOC, a pediatric healthcare system based in Orange County, California, is committed to being a leading destination for children’s health by providing exceptional and innovative care. Our growing community includes two state-of-the-art hospitals in Orange and Mission Viejo and a regional network of primary and specialty care clinics serving children and families in four counties. CHOC offers several clinical programs of excellence providing the highest levels of care for the most serious pediatric illnesses and injuries, both physical and mental. Our research and innovation institutes are focused on translating real patient needs into real-world treatments so every child can live the healthiest and happiest life possible.
