Hugo Wolfgang Moser:Hugo Wolfgang Moser, who has died aged 82, was an internationally renowned child neurologist and scientist who was portrayed in the 1992 film Lorenzo's Oil. At the time of his death, he was professor of neurology and paediatrics at Johns Hopkins University and director of the neurogenetics research centre at the Kennedy Krieger Institute in Baltimore, Maryland.
Moser was born in Bern, Switzerland, and spent his early years in Berlin, where his father was an art dealer and his mother an actor. His family fled Nazi Germany in 1933 and settled in the Netherlands. In 1940, they emigrated to the US, where Moser attended Harvard College (1942-1943), leaving to enter military service. He took his medical degree at Columbia University, New York, in 1948, and served as an intern at the Columbia-Presbyterian medical centre. In 1950, he became assistant in medicine at the Peter Bent Brigham hospital, Boston. From 1952 to 1954, he served as an army medical officer in Korea, before returning to Harvard to undertake his MA. He then obtained residency training in neurology at Massachusetts general hospital, where he was ultimately appointed professor of neurology.
In 1976, he moved to Baltimore to become professor at Johns Hopkins and took over as president of the Kennedy Krieger Institute. From 1988 to 1995, he was director of the research centre on mental retardation and related aspects of human development, though he later gave up many of his administrative duties to focus his efforts on researching metabolic diseases.
Moser will be best remembered as the foremost authority on X-linked adrenoleukodystrophy (ALD), an inherited metabolic disease that strikes down young boys with neurologic symptoms that worsen over several years and are ultimately fatal. The disease is caused by alterations in a gene required for fat metabolism.
Prior to the 1980s, ALD was diagnosed solely by invasive procedures such as brain biopsy, or more commonly at autopsy. In 1981, Moser developed a blood test to diagnose ALD and, with his wife Ann, subsequently identified more than 1,000 children and adults with the disease. The test is now used routinely for detecting ALD and preventing it by prenatal diagnosis.
Moser's research team discovered that ALD boys were unable to degrade certain fatty acids, which accumulate in the body and lead to symptoms. This prompted him to search for therapies that might reverse the metabolic problem. He was the first to perform bone marrow transplantation for ALD in a boy in an advanced stage of the disease, but the initial results were disappointing. Later, this treatment would be shown to prevent the deterioration and death of patients if it was started soon after the onset of the symptoms. The finding that certain fats - like those present in Lorenzo's oil - might have a beneficial metabolic effect in ALD prompted Moser to organise an international, decade-long study that demonstrated its efficacy in delaying the onset of the disease in boys treated at a young age.
In 2006, Moser and his wife demonstrated the feasibility of newborn screening for ALD, using a drop of blood collected within the first days of life, thereby raising the potential to diagnose and treat all ALD infants long before they developed symptoms.
Over the years, Moser's research team attracted numerous scientists, who travelled to Baltimore to learn new laboratory techniques and discuss clinical research. These interactions forged key collaborations that spawned discoveries in other metabolic diseases. His accomplishments were recognised by numerous awards. He published more than 350 articles in medical journals and wrote 100 book chapters.
Moser's contributions to children's health went beyond research on neurologic diseases. He helped establish the United Leukodystrophy Foundation, a grassroots organisation that supports research and education on ALD and similar disorders in the US. He also served on the advisory boards of many professional societies and was a vocal advocate for people with developmental disabilities.
For physicians treating patients with neurodegenerative diseases, Moser's name will always be synonymous with ALD. Yet among the population at large, he is marked by a film portrayal in Lorenzo's Oil as a reluctant, conflicted medical authority. Quite the opposite, he was a caring, compassionate physician, who took time to reach out to children and families in the midst of tragedy.
Hugo Wolfgang Moser: born October 4th, 1924; died January 20th, 2007