J. Edwin Seegmiller
Encyclopedia
J Edwin Seegmiller, or Jay Seegmiller, (June 22, 1920 - May 31, 2006) was an American physician
and biochemical geneticist best known for his role in discovering the biochemical basis of the Lesch-Nyhan syndrome
. He was a rheumatologist and a pioneer in research on arthritic
diseases and on aging.
family in the small town of St. George
in southwestern Utah
. He attended the University of Utah
in Salt Lake City where he majored in chemistry
and graduated with a Bachelor's degree in 1942. He then served in the US Army. After the war, he went to medical school
and received his Doctor of Medicine degree with honors from the University of Chicago
in 1948. After an internship at Johns Hopkins Hospital
in Baltimore, Maryland, he trained at the National Institute of Arthritis and Metabolic Disease (NIAMD), a part of the National Institutes of Health
(NIH) in Bethesda, Maryland
.
He then worked as a research associate at the Thorndike Memorial Laboratory at Harvard Medical School
and as a visiting investigator at the Public Health Research Institute of the City of New York. Seegmiller returned to NIH in 1954. He was appointed senior investigator at NIAMD, and in time became Chief of Human Biochemical Genetics.
In 1969 Seegmiller started on his second career. He left NIH to become a founding faculty member of the new Medical School of the University of California, San Diego
(UCSD) and became the first head of the Arthritis Division of the Department of Medicine.
Seegmiller embarked on his third and last career in 1983 when he was appointed founding Director of the Stein Institute for Research on Aging (SIRA) at UCSD.
Seegmiller was given the United States Public Health
(USPHS) Distinguished Service Award in 1969. He was elected to the National Academy of Sciences
in 1972 and to the National Academy of Arts and Sciences in 1982. He was honored as Master of the American College of Rheumatology
(ACR) in 1992.
Jay Seegmiller died after a brief respiratory illness in La Jolla, California. He was survived by his second wife Barbara (his first wife Roberta died in 1992), 2 sons, 2 daughters and 17 grandchildren.
reported finding an X-linked recessive
disorder in two young brothers with progressive mental retardation
and a bizarre tendency to self-mutilation. Because the boys had abnormally high blood levels of uric acid
, Lesch and Nyhan called it A familial disorder of uric acid metabolism and central nervous system function.
It was only three years until the biochemical basis of the disease was identified by Jay Seegmiller and his colleagues at NIH. They discovered that this rare genetic disease, Lesch-Nyhan syndrome
, was due to a profound deficiency of an enzyme known as hypoxanthine guanine phosphoribosyltransferase
, or HGPRT, for short.
in the blood and leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.
Physician
A physician is a health care provider who practices the profession of medicine, which is concerned with promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments...
and biochemical geneticist best known for his role in discovering the biochemical basis of the Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
. He was a rheumatologist and a pioneer in research on arthritic
Arthritis
Arthritis is a form of joint disorder that involves inflammation of one or more joints....
diseases and on aging.
Life
Jay Seegmiller was born into a MormonMormon
The term Mormon most commonly denotes an adherent, practitioner, follower, or constituent of Mormonism, which is the largest branch of the Latter Day Saint movement in restorationist Christianity...
family in the small town of St. George
St. George, Utah
St. George is a city located in the southwestern part of the U.S. state of Utah, and the county seat of Washington County, Utah. It is the principal city of and is included in the St. George, Utah, Metropolitan Statistical Area. The city is 119 miles northeast of Las Vegas, Nevada, and 303 miles ...
in southwestern Utah
Utah
Utah is a state in the Western United States. It was the 45th state to join the Union, on January 4, 1896. Approximately 80% of Utah's 2,763,885 people live along the Wasatch Front, centering on Salt Lake City. This leaves vast expanses of the state nearly uninhabited, making the population the...
. He attended the University of Utah
University of Utah
The University of Utah, also known as the U or the U of U, is a public, coeducational research university in Salt Lake City, Utah, United States. The university was established in 1850 as the University of Deseret by the General Assembly of the provisional State of Deseret, making it Utah's oldest...
in Salt Lake City where he majored in chemistry
Chemistry
Chemistry is the science of matter, especially its chemical reactions, but also its composition, structure and properties. Chemistry is concerned with atoms and their interactions with other atoms, and particularly with the properties of chemical bonds....
and graduated with a Bachelor's degree in 1942. He then served in the US Army. After the war, he went to medical school
Medical school
A medical school is a tertiary educational institution—or part of such an institution—that teaches medicine. Degree programs offered at medical schools often include Doctor of Osteopathic Medicine, Bachelor/Doctor of Medicine, Doctor of Philosophy, master's degree, or other post-secondary...
and received his Doctor of Medicine degree with honors from the University of Chicago
University of Chicago
The University of Chicago is a private research university in Chicago, Illinois, USA. It was founded by the American Baptist Education Society with a donation from oil magnate and philanthropist John D. Rockefeller and incorporated in 1890...
in 1948. After an internship at Johns Hopkins Hospital
Johns Hopkins Hospital
The Johns Hopkins Hospital is the teaching hospital and biomedical research facility of Johns Hopkins University School of Medicine, located in Baltimore, Maryland . It was founded using money from a bequest by philanthropist Johns Hopkins...
in Baltimore, Maryland, he trained at the National Institute of Arthritis and Metabolic Disease (NIAMD), a part of the National Institutes of Health
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
(NIH) in Bethesda, Maryland
Bethesda, Maryland
Bethesda is a census designated place in southern Montgomery County, Maryland, United States, just northwest of Washington, D.C. It takes its name from a local church, the Bethesda Meeting House , which in turn took its name from Jerusalem's Pool of Bethesda...
.
He then worked as a research associate at the Thorndike Memorial Laboratory at Harvard Medical School
Harvard Medical School
Harvard Medical School is the graduate medical school of Harvard University. It is located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts....
and as a visiting investigator at the Public Health Research Institute of the City of New York. Seegmiller returned to NIH in 1954. He was appointed senior investigator at NIAMD, and in time became Chief of Human Biochemical Genetics.
In 1969 Seegmiller started on his second career. He left NIH to become a founding faculty member of the new Medical School of the University of California, San Diego
University of California, San Diego
The University of California, San Diego, commonly known as UCSD or UC San Diego, is a public research university located in the La Jolla neighborhood of San Diego, California, United States...
(UCSD) and became the first head of the Arthritis Division of the Department of Medicine.
Seegmiller embarked on his third and last career in 1983 when he was appointed founding Director of the Stein Institute for Research on Aging (SIRA) at UCSD.
Seegmiller was given the United States Public Health
United States Public Health Service
The Public Health Service Act of 1944 structured the United States Public Health Service as the primary division of the Department of Health, Education and Welfare , which later became the United States Department of Health and Human Services. The PHS comprises all Agency Divisions of Health and...
(USPHS) Distinguished Service Award in 1969. He was elected to the National Academy of Sciences
United States National Academy of Sciences
The National Academy of Sciences is a corporation in the United States whose members serve pro bono as "advisers to the nation on science, engineering, and medicine." As a national academy, new members of the organization are elected annually by current members, based on their distinguished and...
in 1972 and to the National Academy of Arts and Sciences in 1982. He was honored as Master of the American College of Rheumatology
American College of Rheumatology
The American College of Rheumatology is an organization of and for physicians, health professionals, and scientists that advances rheumatology through programs of education, research, advocacy and practice support that foster excellence in the care of people with arthritis and rheumatic and...
(ACR) in 1992.
Jay Seegmiller died after a brief respiratory illness in La Jolla, California. He was survived by his second wife Barbara (his first wife Roberta died in 1992), 2 sons, 2 daughters and 17 grandchildren.
Lesch-Nyhan syndrome
In 1964 medical student Michael Lesch and pediatric faculty member Bill Nyhan at Johns Hopkins HospitalJohns Hopkins Hospital
The Johns Hopkins Hospital is the teaching hospital and biomedical research facility of Johns Hopkins University School of Medicine, located in Baltimore, Maryland . It was founded using money from a bequest by philanthropist Johns Hopkins...
reported finding an X-linked recessive
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on...
disorder in two young brothers with progressive mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
and a bizarre tendency to self-mutilation. Because the boys had abnormally high blood levels of uric acid
Uric acid
Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the formula C5H4N4O3. It forms ions and salts known as urates and acid urates such as ammonium acid urate. Uric acid is created when the body breaks down purine nucleotides. High blood concentrations of uric acid...
, Lesch and Nyhan called it A familial disorder of uric acid metabolism and central nervous system function.
It was only three years until the biochemical basis of the disease was identified by Jay Seegmiller and his colleagues at NIH. They discovered that this rare genetic disease, Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
, was due to a profound deficiency of an enzyme known as hypoxanthine guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase is an enzyme encoded in humans by the HPRT1 gene.HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. This reaction transfers the 5-phosphoribosyl group from...
, or HGPRT, for short.
Kelley-Seegmiller syndrome
Seegmiller's laboratory team at NIH went on to discover that some men have partial HGPRT deficiency that causes high levels of uric acidUric acid
Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the formula C5H4N4O3. It forms ions and salts known as urates and acid urates such as ammonium acid urate. Uric acid is created when the body breaks down purine nucleotides. High blood concentrations of uric acid...
in the blood and leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.
External links
- Memorial notice for Jarvis Edwin Seegmiller by the University of California, San Diego
- Brief biographical sketch on the site Who Named It?
- In Memoriam in the University of Utah Alumni Association e-newsletter
- American College of Rheumatology
- United States Public Health Service