R. Ellen Magenis
Encyclopedia
R. Ellen Magenis is a distinguished American pediatrician, medical geneticist
and cytogeneticist
.
She was born in Gary, Indiana
and received her BA in zoology
from Indiana University
in Bloomington, Indiana
in 1948 and her MD degree from the Indiana University School of Medicine
in Indianapolis
in 1952. She took a number of years off to raise a large family and then returned to work in 1965-66 with Frederick Hecht in pediatrics and medical genetics at the University of Oregon
Medical School, now called the Oregon Health Sciences University (OHSU), in Portland where Dr. Magenis subsequently completed her residency training in Pediatrics and then did a postdoctoral fellowship in Medical Genetics.
Magenis's first major research project involved a heritable fragile site on the long (q) arm of chromosome
16. She traced this 16q fragile site through a multigenerational family and, together with Hecht and Everett Lovrien, she linked the 16q fragile site to the gene
for haptoglobin
. The mapping of haptoglobin to 16q was the second instance in which a human gene was mapped to a specific autosome
(non-sex chromosome), presaging the human genome project
.
Magenis joined the faculty at OHSU as an Assistant Professor, rising to be Professor of Pediatrics and of Molecular and Medical Genetics. She is the director of the Cytogenetic Laboratory and Chromosome Clinic at the Child Development and Rehabilitation Center at OHSU. Her special interest continues to be in human chromosome mapping.
Ellen Magenis is also associated with the Smith-Magenis syndrome
, a condition she and Ann C. M. Smith described in 1986 that is due to an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.
Medical genetics
Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from Human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the...
and cytogeneticist
Cytogenetics
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis of G-Banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ...
.
She was born in Gary, Indiana
Gary, Indiana
Gary is a city in Lake County, Indiana, United States. The city is in the southeastern portion of the Chicago metropolitan area and is 25 miles from downtown Chicago. The population is 80,294 at the 2010 census, making it the seventh-largest city in the state. It borders Lake Michigan and is known...
and received her BA in zoology
Zoology
Zoology |zoölogy]]), is the branch of biology that relates to the animal kingdom, including the structure, embryology, evolution, classification, habits, and distribution of all animals, both living and extinct...
from Indiana University
Indiana University
Indiana University is a multi-campus public university system in the state of Indiana, United States. Indiana University has a combined student body of more than 100,000 students, including approximately 42,000 students enrolled at the Indiana University Bloomington campus and approximately 37,000...
in Bloomington, Indiana
Bloomington, Indiana
Bloomington is a city in and the county seat of Monroe County in the southern region of the U.S. state of Indiana. The population was 80,405 at the 2010 census....
in 1948 and her MD degree from the Indiana University School of Medicine
Indiana University School of Medicine
The Indiana University School of Medicine is a leading medical school and medical research powerhouse connected to Indiana University. With several teaching campuses in the state, the School of Medicine has its predominant research and medical center at the Indiana University – Purdue University...
in Indianapolis
Indianapolis
Indianapolis is the capital of the U.S. state of Indiana, and the county seat of Marion County, Indiana. As of the 2010 United States Census, the city's population is 839,489. It is by far Indiana's largest city and, as of the 2010 U.S...
in 1952. She took a number of years off to raise a large family and then returned to work in 1965-66 with Frederick Hecht in pediatrics and medical genetics at the University of Oregon
University of Oregon
-Colleges and schools:The University of Oregon is organized into eight schools and colleges—six professional schools and colleges, an Arts and Sciences College and an Honors College.- School of Architecture and Allied Arts :...
Medical School, now called the Oregon Health Sciences University (OHSU), in Portland where Dr. Magenis subsequently completed her residency training in Pediatrics and then did a postdoctoral fellowship in Medical Genetics.
Magenis's first major research project involved a heritable fragile site on the long (q) arm of chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
16. She traced this 16q fragile site through a multigenerational family and, together with Hecht and Everett Lovrien, she linked the 16q fragile site to 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 haptoglobin
Haptoglobin
Haptoglobin is a protein that in humans is encoded by the HP gene. In blood plasma, haptoglobin binds free hemoglobin released from erythrocytes with high affinity and thereby inhibits its oxidative activity. The haptoglobin-hemoglobin complex will then be removed by the reticuloendothelial system...
. The mapping of haptoglobin to 16q was the second instance in which a human gene was mapped to a specific autosome
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
(non-sex chromosome), presaging the human genome project
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
.
Magenis joined the faculty at OHSU as an Assistant Professor, rising to be Professor of Pediatrics and of Molecular and Medical Genetics. She is the director of the Cytogenetic Laboratory and Chromosome Clinic at the Child Development and Rehabilitation Center at OHSU. Her special interest continues to be in human chromosome mapping.
Ellen Magenis is also associated with the Smith-Magenis syndrome
Smith-Magenis syndrome
Smith–Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems...
, a condition she and Ann C. M. Smith described in 1986 that is due to an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.
External links
- R. Ellen Magenis homepage at the Oregon Health Sciences University
- Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man by R. Ellen Magenis, Frederick Hecht, Everett W. Lovrien, published in the journal ScienceScienceScience is a systematic enterprise that builds and organizes knowledge in the form of testable explanations and predictions about the universe...
1970: vol. 170, pp.85-87