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May. 5, 2016

TOPIC: Featured News

Dr. Stephen Cederbaum: 2016 Rare Impact Award Honoree

Posted by Christina Jensen
Cederbaum 10.05.05

A medical geneticist and expert on inborn errors of metabolism, Stephen Cederbaum, MD, has been affiliated for many years with the University of California, Los Angeles, as a professor, medical researcher and clinician. He has conducted pioneering research, published widely acclaimed papers and advanced understanding of urea cycle disorders, and in particular arginase deficiency, in his distinguished academic career.  

But to the families of the children who are his patients, he is “Steve” = a kind and compassionate friend and guide through the trauma of receiving a rare disease diagnosis and the ongoing stress of living with a life-threatening medical condition.Dr. Cederbaum patient 2

“Our world changed forever with our child’s diagnosis and it would have been very different if not impossible without Steve,” one parent wrote. To his patients and their families, Dr. Cederbaum is never more than a phone call or email away and always willing to spend as much time as needed to answer questions and address fears.

“He provides information, explanations and support,” another parent said. “He has no ‘former patients’ because he is always there. Time, space, distance make no difference. “

In addition to his work at UCLA, Dr. Cederbaum has been a longtime supporter and medical adviser to the National Urea Cycle Disorders Foundation, which is one of NORD’s member organizations.   

“We’re so thrilled that Steve is being recognized with the Rare Impact Award,” said Cynthia Le Mons, Executive Director of NUCDF and Co-Principal Investigator of the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium  who has known Dr. Cederbaum for over twenty years.  “Since the founding of NUCDF by a handful of parents in 1988, Steve has been and continues to be a refuge for the families who depend on his clinical expertise, and an enthusiastic mentor fostering the growth of our organization.  Steve is in so many ways one of our patriarchs, and we can’t imagine where our UCD community would be if not for him. He’s not only part of the fabric of the lives of the patients and families he cares for, his pioneering research continues to save lives and inspire the next generation of clinicians and researchers in explorations to improve the lives of those affected with urea cycle disorders.”

NORD is honored to tell Dr. Cedberbaum’s story and to honor him with a Rare Impact Award.
Read the stories of all of our 2016 Rare Impact Award Honorees here.

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