Hugo Moser (scientist)
Encyclopedia
Hugo Moser, M.D. was a research scientist and Director of the Neurogenetics Research Center at the Kennedy Krieger Institute. Dr. Moser was also University Professor of Neurology and Pediatrics at Johns Hopkins University
. His research on peroxisomal disorders achieved international recognition.
, Switzerland and grew up in Berlin
. His father was of Jewish background and a prominent art dealer in Berlin. His mother was Austria
n. Within a month of Hitler taking power in Germany the family left Berlin. Hugo spent his high school years in Holland. Three months prior to the invasion of Holland his mother arranged their timely escape from the Nazis. The family fled via Italy
and Spain
to Cuba
.
In 1940 the family arrived in United States of America, first living in Baltimore
, where the family owned paintings exhibited in the Baltimore Museum of Art
, then moved to New York City
. Survivor guilt
plagued Hugo for having escaped the Holocaust without harm. His aunt and uncle, who were not able to leave Holland, died in a German concentration camp. He devoted his life to working for the less privileged and disenfranchised.
Hugo Moser attended Harvard as a pre-med student until he was drafted into the army. After discharge he went to medical school at Columbia University
. At Columbia Presbyterian he was influenced by the chairman of medicine, Robert F. Loeb. He taught Hugo “two laws of therapeutics: if something doesn’t work, try something else, and if something does work, keep on doing it”. This principle later influenced his work on adrenoleukodystrophy (ALD)
.
After two years of residency at the Peter Bent Brigham Hospital during the Korean War
, he volunteered for the Army
. When back in the states, Hugo Moser returned to Harvard to get an advanced degree in biochemistry
. He took two years of course work and became the first fellow of the National Multiple Sclerosis Society (NMSS)
.
Hugo Moser worked on lipid chemistry with Dr. Manfred Karnofsky, until becoming a resident in neurology at Massachusetts General Hospital (MGH)
, where he established a neurochemistry program. Hugo set up the test for urinary sulfatides and compared the composition of urinary lipids with that of brain in metachromatic leukodystrophy
.
Dr. Moser spent formative years in the research laboratories of the neurochemist Jordi Folch-Pi
and Marjorie Lees at McLean Hospital
. At McLean Hospital he interviewed Ann Boody for a position in his laboratory. This proved to be the beginning of a long and successful professional and marital partnership between Ann and Hugo. In the early research years, Hugo and Ann worked on lysosomal disorders. They described first the presence of cholesterol sulfate in human brain. They further investigated the role of steroid sulfatase
s in metachromatic leukodystrophy
and multiple sulfatase deficiency
, and they identified acid ceramidase as the enzyme deficient in Farber’s disease. In 1964, Hugo returned to the Joseph P. Kennedy research laboratories at MGH, and with Mary Efron and her junior faculty staff, Harvey Levy and Vivian Shih, he started screening programs for amino acid disorders and lysosomal disorders.
When training with other neurologists under Dr. Ray Adams at the Fernald State School
in Waltham, Massachusetts
, Hugo Moser became interested in providing better services for persons with developmental and physical disabilities. He was appointed research director and later superintendent of the Fernald State School. He also founded and directed the Eunice Kennedy Shriver Center for research and training in mental retardation. During this time he became a Harvard University Professor of Neurology at MGH, and established a model of a close link between clinical practice, training and community services for the developmentally disabled and bench research.
and professor of Neurology and Pediatrics at Johns Hopkins
in Baltimore. Here he was able to merge areas of service, training and research. Dr. Yasuo Kishimoto, who had helped Kuni Suzuki make the discovery of elevated very long chain fatty acids in AdrenoleukodystrophyALD brains at Albert Einstein College of Medicine
, followed Dr. Moser from the Shriver Center to the Kennedy Inistitute. With Kishimoto’s help, Hugo and Ann Moser developed the first assay for ALD in fibroblasts In 1981, they developed the plasma assay.
Hugo worked with Jim Powers for many years defining the phenotypic variation in ALD. Dr. Jack Griffin, then a fellow at NIH in endocrinology, first described the adult form of ALD. Beyond establishing the diagnostic testing for X-linked adrenoleukodystrophy, Hugo Moser also contributed to the discovery of the gene
for X-ALD. During an interview with the American Neurological Association
, he recalled how a post-doc by the name of Patrick Aubourg had come from Paris to work in his lab. Dr. Aubourg began working on the gene abnormality at Kennedy Krieger. However, it was Dr. Aubourg’s work with Dr. Jean-Louis Mandel in Strasbourg
that finally led to identification and mapping of the gene.
As soon as diagnostic testing was established, Hugo Moser began to fight for treatment of patients with ALD. Together with the parents’ association United Leukodystrophy Foundation he provided support and guidance for families stricken by this devastating illness. Back in 1982, Johns Hopkins performed the first bone marrow transplantation in ALD. However, it wasn't until Patrick Aubourg transplanted a very mildly involved patient with his nonidentical twin as a donor, that bone marrow transplantation had a successful outcome. Hugo went on to collaborate a great deal with the University of Minnesota
, where Bill Krivit and Charlie Peters developed a unique method of transplantation of ALD boys.
Dr. Hugo Moser's clinical partner Dr. Gerald Raymond, trained in pediatric neurology at MGH, worked together with him on these clinical trials in ALD patients. Today Dr. Raymond continues Moser's legacy at Kennedy Krieger.
. It began with his relationship with Augusto and Michaela Odone
, the parents of Lorenzo Odone
, the namesake for Lorenzo’s oil. Hugo had diagnosed their son with the plasma assay. With the boy’s subsequent decline Hugo had suggested immunosuppression
, which turned out not to be successful and contributed to frustration and tension between the Odones and Hugo. Together they organized a meeting at Kennedy Krieger where Dr. Bill Rizzo presented data that showed that adding oleic acid
(C18 monounsaturated) to fibroblast
cultures of ALD patients, it would reduce their fatty acids. Mr. Odone made an independent intellectual computation – namely that the use of erucic acid
, which is C22:1 (C22 monounsaturated), would increase the effectiveness – and Lorenzo’s oil was developed. Controlled studies, however, indicate that Lorenzo's oil is not effective at treating symptomatic ALD, although it may delay the onset of symptoms if taken before they set in.
2.
Johns Hopkins University
The Johns Hopkins University, commonly referred to as Johns Hopkins, JHU, or simply Hopkins, is a private research university based in Baltimore, Maryland, United States...
. His research on peroxisomal disorders achieved international recognition.
Early life
Hugo Moser was born in BerneBerne
The city of Bern or Berne is the Bundesstadt of Switzerland, and, with a population of , the fourth most populous city in Switzerland. The Bern agglomeration, which includes 43 municipalities, has a population of 349,000. The metropolitan area had a population of 660,000 in 2000...
, Switzerland and grew up in Berlin
Berlin
Berlin is the capital city of Germany and is one of the 16 states of Germany. With a population of 3.45 million people, Berlin is Germany's largest city. It is the second most populous city proper and the seventh most populous urban area in the European Union...
. His father was of Jewish background and a prominent art dealer in Berlin. His mother was Austria
Austria
Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the...
n. Within a month of Hitler taking power in Germany the family left Berlin. Hugo spent his high school years in Holland. Three months prior to the invasion of Holland his mother arranged their timely escape from the Nazis. The family fled via Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
and Spain
Spain
Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula...
to Cuba
Cuba
The Republic of Cuba is an island nation in the Caribbean. The nation of Cuba consists of the main island of Cuba, the Isla de la Juventud, and several archipelagos. Havana is the largest city in Cuba and the country's capital. Santiago de Cuba is the second largest city...
.
In 1940 the family arrived in United States of America, first living in Baltimore
Baltimore
Baltimore is the largest independent city in the United States and the largest city and cultural center of the US state of Maryland. The city is located in central Maryland along the tidal portion of the Patapsco River, an arm of the Chesapeake Bay. Baltimore is sometimes referred to as Baltimore...
, where the family owned paintings exhibited in the Baltimore Museum of Art
Baltimore Museum of Art
The Baltimore Museum of Art in Baltimore, Maryland, United States, was founded in 1914. Built in the Roman Temple style, the Museum is home to an internationally renowned collection of 19th-century, modern, and contemporary art. Founded in 1914 with a single painting, the BMA today has 90,000 works...
, then moved to New York City
New York City
New York is the most populous city in the United States and the center of the New York Metropolitan Area, one of the most populous metropolitan areas in the world. New York exerts a significant impact upon global commerce, finance, media, art, fashion, research, technology, education, and...
. Survivor guilt
Survivor guilt
Survivor, survivor's, or survivors guilt or syndrome is a mental condition that occurs when a person perceives themselves to have done wrong by surviving a traumatic event when others did not...
plagued Hugo for having escaped the Holocaust without harm. His aunt and uncle, who were not able to leave Holland, died in a German concentration camp. He devoted his life to working for the less privileged and disenfranchised.
Education
Columbia University
Columbia University in the City of New York is a private, Ivy League university in Manhattan, New York City. Columbia is the oldest institution of higher learning in the state of New York, the fifth oldest in the United States, and one of the country's nine Colonial Colleges founded before the...
. At Columbia Presbyterian he was influenced by the chairman of medicine, Robert F. Loeb. He taught Hugo “two laws of therapeutics: if something doesn’t work, try something else, and if something does work, keep on doing it”. This principle later influenced his work on adrenoleukodystrophy (ALD)
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
.
After two years of residency at the Peter Bent Brigham Hospital during the Korean War
Korean War
The Korean War was a conventional war between South Korea, supported by the United Nations, and North Korea, supported by the People's Republic of China , with military material aid from the Soviet Union...
, he volunteered for the Army
United States Army
The United States Army is the main branch of the United States Armed Forces responsible for land-based military operations. It is the largest and oldest established branch of the U.S. military, and is one of seven U.S. uniformed services...
. When back in the states, Hugo Moser returned to Harvard to get an advanced degree in biochemistry
Biochemistry
Biochemistry, sometimes called biological chemistry, is the study of chemical processes in living organisms, including, but not limited to, living matter. Biochemistry governs all living organisms and living processes...
. He took two years of course work and became the first fellow of the National Multiple Sclerosis Society (NMSS)
National Multiple Sclerosis Society
The National Multiple Sclerosis Society, a United States-based non-profit organization, and its network of chapters nationwide promote research, educate, advocate on issues relating to multiple sclerosis, and organize a wide range of programs, including support for the newly diagnosed and those...
.
Career
Massachusetts General Hospital
Massachusetts General Hospital is a teaching hospital and biomedical research facility in the West End neighborhood of Boston, Massachusetts...
, where he established a neurochemistry program. Hugo set up the test for urinary sulfatides and compared the composition of urinary lipids with that of brain in metachromatic leukodystrophy
Metachromatic leukodystrophy
Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...
.
Dr. Moser spent formative years in the research laboratories of the neurochemist Jordi Folch-Pi
Jordi Folch Pi
Jordi Folch Pi was a Catalan biochemist at Harvard University who is recognized universally as one of the founders of the field of structural chemistry of complex lipids and as a leader in the development of Neurochemistry as a distinct discipline within the Neurosciences...
and Marjorie Lees at McLean Hospital
McLean Hospital
McLean Hospital is a psychiatric hospital in Belmont, Massachusetts.It is noted for its clinical staff expertise and ground-breaking neuroscience research...
. At McLean Hospital he interviewed Ann Boody for a position in his laboratory. This proved to be the beginning of a long and successful professional and marital partnership between Ann and Hugo. In the early research years, Hugo and Ann worked on lysosomal disorders. They described first the presence of cholesterol sulfate in human brain. They further investigated the role of steroid sulfatase
Steroid sulfatase
Steroid sulfatase , formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the STS gene.- Function :...
s in metachromatic leukodystrophy
Metachromatic leukodystrophy
Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...
and multiple sulfatase deficiency
Multiple sulfatase deficiency
Multiple sulfatase deficiency is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes...
, and they identified acid ceramidase as the enzyme deficient in Farber’s disease. In 1964, Hugo returned to the Joseph P. Kennedy research laboratories at MGH, and with Mary Efron and her junior faculty staff, Harvey Levy and Vivian Shih, he started screening programs for amino acid disorders and lysosomal disorders.
When training with other neurologists under Dr. Ray Adams at the Fernald State School
Walter E. Fernald State School
The Walter E. Fernald State School, now the Walter E. Fernald Developmental Center, located in Waltham, Massachusetts, is the Western hemisphere's oldest publicly funded institution serving people with developmental disabilities. Originally a Victorian sanatorium, it became a "poster child" for...
in Waltham, Massachusetts
Waltham, Massachusetts
Waltham is a city in Middlesex County, Massachusetts, United States, was an early center for the labor movement, and major contributor to the American Industrial Revolution. The original home of the Boston Manufacturing Company, the city was a prototype for 19th century industrial city planning,...
, Hugo Moser became interested in providing better services for persons with developmental and physical disabilities. He was appointed research director and later superintendent of the Fernald State School. He also founded and directed the Eunice Kennedy Shriver Center for research and training in mental retardation. During this time he became a Harvard University Professor of Neurology at MGH, and established a model of a close link between clinical practice, training and community services for the developmentally disabled and bench research.
ALD Research
In 1976 Hugo Moser accepted the position of president of the Kennedy Krieger InstituteKennedy Krieger Institute
The Kennedy Krieger Institute is an internationally recognized organization improving the lives of children and adolescents with learning disabilities, disorders of the brain, spinal cord, and musculoskeletal system...
and professor of Neurology and Pediatrics at Johns Hopkins
Johns Hopkins
Johns Hopkins was a wealthy American entrepreneur, philanthropist and abolitionist of 19th-century Baltimore, Maryland, now most noted for his philanthropic creation of the institutions that bear his name, namely the Johns Hopkins Hospital, and the Johns Hopkins University and its associated...
in Baltimore. Here he was able to merge areas of service, training and research. Dr. Yasuo Kishimoto, who had helped Kuni Suzuki make the discovery of elevated very long chain fatty acids in AdrenoleukodystrophyALD brains at Albert Einstein College of Medicine
Albert Einstein College of Medicine
Albert Einstein College of Medicine is a graduate school of Yeshiva University. It is a not-for-profit, private, nonsectarian medical school located on the Jack and Pearl Resnick Campus in the Morris Park neighborhood of the borough of the Bronx of New York City...
, followed Dr. Moser from the Shriver Center to the Kennedy Inistitute. With Kishimoto’s help, Hugo and Ann Moser developed the first assay for ALD in fibroblasts In 1981, they developed the plasma assay.
Hugo worked with Jim Powers for many years defining the phenotypic variation in ALD. Dr. Jack Griffin, then a fellow at NIH in endocrinology, first described the adult form of ALD. Beyond establishing the diagnostic testing for X-linked adrenoleukodystrophy, Hugo Moser also contributed to the discovery of the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
for X-ALD. During an interview with the American Neurological Association
American Neurological Association
The American Neurological Association, is a professional society with a mission of educating neurologists and physicians as well as increasing knowledge and enhancing treatment of diseases of the nervous system. It was founded in June 1875.-Officers:...
, he recalled how a post-doc by the name of Patrick Aubourg had come from Paris to work in his lab. Dr. Aubourg began working on the gene abnormality at Kennedy Krieger. However, it was Dr. Aubourg’s work with Dr. Jean-Louis Mandel in Strasbourg
Strasbourg
Strasbourg is the capital and principal city of the Alsace region in eastern France and is the official seat of the European Parliament. Located close to the border with Germany, it is the capital of the Bas-Rhin département. The city and the region of Alsace are historically German-speaking,...
that finally led to identification and mapping of the gene.
As soon as diagnostic testing was established, Hugo Moser began to fight for treatment of patients with ALD. Together with the parents’ association United Leukodystrophy Foundation he provided support and guidance for families stricken by this devastating illness. Back in 1982, Johns Hopkins performed the first bone marrow transplantation in ALD. However, it wasn't until Patrick Aubourg transplanted a very mildly involved patient with his nonidentical twin as a donor, that bone marrow transplantation had a successful outcome. Hugo went on to collaborate a great deal with the University of Minnesota
University of Minnesota
The University of Minnesota, Twin Cities is a public research university located in Minneapolis and St. Paul, Minnesota, United States. It is the oldest and largest part of the University of Minnesota system and has the fourth-largest main campus student body in the United States, with 52,557...
, where Bill Krivit and Charlie Peters developed a unique method of transplantation of ALD boys.
Dr. Hugo Moser's clinical partner Dr. Gerald Raymond, trained in pediatric neurology at MGH, worked together with him on these clinical trials in ALD patients. Today Dr. Raymond continues Moser's legacy at Kennedy Krieger.
Lorenzo's Oil
One of Dr. Hugo Moser’s longest endeavors was his work on Lorenzo's oilLorenzo's oil
Lorenzo's oil is a 4:1 mixture of glycerol trioleate and glycerol trierucate , prepared from olive oil and rapeseed oil....
. It began with his relationship with Augusto and Michaela Odone
Augusto and Michaela Odone
Augusto Daniel Odone and Michaela Teresa Murphy Odone are the parents of Lorenzo Odone , a child afflicted with the illness adrenoleukodystrophy...
, the parents of Lorenzo Odone
Lorenzo Odone
Lorenzo Michael Murphy Odone was an American adrenoleukodystrophy patient whose parents, Augusto and Michaela Odone, sought a treatment for the disease and invented Lorenzo's oil....
, the namesake for Lorenzo’s oil. Hugo had diagnosed their son with the plasma assay. With the boy’s subsequent decline Hugo had suggested immunosuppression
Immunosuppression
Immunosuppression involves an act that reduces the activation or efficacy of the immune system. Some portions of the immune system itself have immuno-suppressive effects on other parts of the immune system, and immunosuppression may occur as an adverse reaction to treatment of other...
, which turned out not to be successful and contributed to frustration and tension between the Odones and Hugo. Together they organized a meeting at Kennedy Krieger where Dr. Bill Rizzo presented data that showed that adding oleic acid
Oleic acid
Oleic acid is a monounsaturated omega-9 fatty acid found in various animal and vegetable fats. It has the formula CH37CH=CH7COOH. It is an odorless, colourless oil, although commercial samples may be yellowish. The trans isomer of oleic acid is called elaidic acid...
(C18 monounsaturated) to fibroblast
Fibroblast
A fibroblast is a type of cell that synthesizes the extracellular matrix and collagen, the structural framework for animal tissues, and plays a critical role in wound healing...
cultures of ALD patients, it would reduce their fatty acids. Mr. Odone made an independent intellectual computation – namely that the use of erucic acid
Erucic acid
Erucic acid is a monounsaturated omega-9 fatty acid, denoted 22:1 ω-9. It has the formula CH37CH=CH11COOH. It is prevalent in rapeseed, wallflower seed, and mustard seed, making up 40-50% of their oils...
, which is C22:1 (C22 monounsaturated), would increase the effectiveness – and Lorenzo’s oil was developed. Controlled studies, however, indicate that Lorenzo's oil is not effective at treating symptomatic ALD, although it may delay the onset of symptoms if taken before they set in.
External links
1.2.