Researcher Leaves Legacy of Hope for Families with X-ALD
(October 4, 1924 – January 20, 2007)
Baltimore, MD – Hugo W. Moser, recognized throughout the world for his research on genetic disorders that affect nervous system function in children, passed away on Saturday, January 20th following a courageous battle with cancer. He leaves behind a legacy of advancing the science surrounding some of the most complex genetic disorders, particularly the disease adrenoleukodystrophy (X-ALD), as profiled in the 1992 release of the motion picture Lorenzo’s Oil.
“Hugo Moser’s passing is a profound loss for the field of neurogenetics, the international adrenoleukodystrophy community, and all who had the privilege of working with this great man. As anyone who knew him could attest, he was far more than a dedicated faculty member at Kennedy Krieger; he was a friend and mentor to us all,” said Dr. Gary Goldstein, President of the Kennedy Krieger Institute. “His sole motivation during his 30-plus year tenure at the Kennedy Krieger Institute was to help those suffering. Amid the many appointments he held, papers he published, studies he led and awards he received, he never wavered from this commitment.”
Dr. Moser, who was 82, served as President of the Kennedy Krieger Institute from 1976-1988, and later went on to act as Director of the Neurogenetics Research Center at the Institute. Dr. Moser was also a University Professor of Neurology and Pediatrics at Johns Hopkins University. As a neurologist specializing in genetic disorders that involve the part of the cell called the peroxisome, Dr. Moser helped to identify the characteristic biochemical abnormalities and the gene mutations that cause each of the fifteen peroxisomal disorders. However, he is best known for his work in the most common of these disorders, X-ALD.
In X-ALD, Dr. Moser established methods of early diagnosis, counseling and world-wide programs to evaluate methods of therapy, including diet, pharmacological agents and transplantation. Most recently, his landmark study of the preventative effects of Lorenzo’s Oil, proved the oil prevents the onset of disease symptoms for the vast majority of children suffering from this debilitating disorder.
“Without Hugo’s tireless commitment to studying the efficacy of Lorenzo’s oil, we would still be lacking the scientific validation that has proven the oil prevents the onset of X-ALD symptoms,” said Augusto Odone, developer of Lorenzo’s Oil, father of the son who made the disease famous and President of The Myelin Project. “Through this journey, I found not only a brilliant partner in X-ALD research, but a dear friend whose support has been invaluable to our family all these years.”
Even before Lorenzo’s Oil had been shown to prevent the onset of symptoms, Dr. Moser and his wife and research partner, Ann Moser, were already moving full steam ahead with developing a screening technique that would allow X-ALD to be detected at birth. In July of 2006, a published study outlined a technique for an X-ALD screening to be “piggybacked” onto states’ existing newborn screening programs. Broader testing of the technique is presently underway at the Kennedy Krieger Institute, led by Ann Moser.
“Hugo and Ann have been relentless in their search for a screening technique that can be readily applied to states’ existing newborn screening programs. Through this most recent discovery, the heavy lifting has been done. Now, it is just a matter of carrying on the torch and seeing this method through,” said Paula Brazeal, President of the United Leukodystrophy Foundation and long-time friend of the Moser’s. “We all sadly mourn the great loss of Hugo; founding father of our own organization, but we will continue to carry on his legacy by advancing his research.”
Dr. Moser’s career began in the late 1940s when he received his medical degree from the College of Physicians and Surgeons at Columbia University, and then went on to work as a medical intern at the Columbia-Presbyterian Medical Center. In the early 1950’s, he served in the Korean War as a Medical Officer in the U.S. Army. Upon his return from Korea, Dr. Moser received an advanced degree in biological chemistry at Harvard to prepare himself for a life of research. From 1957-1960 he was in the residency program in neurology at Mass General Hospital, where he later served as Professor of Neurology. Following his extensive training in the field of neurology, Dr. Moser began researching brain lipids. With the guidance of his mentors in the field, he became interested in leukodystrophies. It was in his first lab where he met his wife of over 40 years, Ann.
In 1976, Dr. Moser, along with other prominent scientists in the field, moved to Baltimore and to the Kennedy Krieger Institute where they began to work specifically on X-ALD. Together, the Moser’s developed the first diagnostic test for X-ALD, and today’s treatments, including bone marrow transplant and Lorenzo’s Oil therapy, have been tested in his famous lab.
Dr. Moser’s career spanned over 50 years, and he continued to work into the nights up until a few months ago when his health began to fail. He remained extremely active throughout the ALD community until the very end, serving on the boards of the United Leukodystrophy Foundation, The Myelin Project and the Montel Williams MS Foundation. Dr. Moser also participated in many professional societies and editorial boards, and was currently serving on the Board of Directors of the International Child Neurology Society. His many accomplishments earned him wide international recognition, and numerous honors and awards, including his October 2006 election to the rank of Fellow of the American Association for the Advancement of Science, honoring his pioneering work in the field of developmental neurogenetics.
Dr. Moser was well loved and well known by researchers and families throughout the world as an advocate for persons with mental retardation and developmental disabilities. His legacy will live on in the hope he inspired and the answers he uncovered through his tireless fight against X-ALD.
Hugo Moser joined the faculty in 1976 as President of the Kennedy Institute. He came to the Johns Hopkins University as Professor of Neurology and Pediatrics, and in 1988 was appointed University Professor of Neurology and Pediatrics, only the ninth designee in the University’s history. Since 1995 he has been the Director of the Neurogenetics Research Center at the Kennedy Krieger Institute.
Dr. Moser has many professional memberships, editorial activities, and study section and consultant appointments. His publications include over 340 referred journal articles and over 110 chapters in books and publications. His research on peroxisomal disorders has achieved international recognition, and he has been awarded several distinguished lectureships. Dr. Moser proceeds with his research work and continues to lecture at scientific meetings in the United States and abroad.
In 1999, Dr. Hugo Moser and Dr. Stephan Kemp decided to generate a website for X-ALD. The main goal has always been to provide good information with respect to the many aspects of X-ALD both for clinicians, researchers and for patients and family members of patients.
When first released in November 1999, the database primarily functioned as a platform for mutation analysis and mutation data collection. Some of its primary aims were to facilitate X-ALD mutation analysis, collect and catalogue mutations in the ABCD1 gene, and to improve analysis of mutations identified in X-ALD. Additionally, it could make this information more readily accessible and facilitate the report of new X-ALD mutations and polymorphisms. Soon after the website was online, we started to receive e-mails from patients and family members of patients, but also students, with questions about X-ALD and requests for more detailed information. This made us decide to extent the database and include more pages with specialized information and good, reliable and up-to-date information on X-ALD. With the help of many colleagues, the database has been expanded (and still is expanding) and it now also includes a large and growing section with pages written especially for laymen, patients and parents of patients to explain various aspects of the disease.