Ruth Ellen Magenis (September 24, 1925 – February 4, 2014) was an American

pediatrician Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth ...

, medical geneticist and

cytogeneticist Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis an ...

. She was born in

Gary, Indiana Gary ( ) is a city in Lake County, Indiana, United States. The population was 69,093 at the 2020 United States census, 2020 census, making it Indiana's List of municipalities in Indiana, eleventh-most populous city. The city has been historical ...

and received her BA in

zoology Zoology ( , ) is the scientific study of animals. Its studies include the anatomy, structure, embryology, Biological classification, classification, Ethology, habits, and distribution of all animals, both living and extinction, extinct, and ...

from

Indiana University Indiana University (IU) is a state university system, system of Public university, public universities in the U.S. state of Indiana. The system has two core campuses, five regional campuses, and two regional centers under the administration o ...

Bloomington, Indiana Bloomington is a city in Monroe County, Indiana, United States, and its county seat. The population was 79,168 at the 2020 United States census, 2020 census. It is the List of municipalities in Indiana, seventh-most populous city in Indiana and ...

in 1948 and her MD degree from the

Indiana University School of Medicine The Indiana University School of Medicine (IUSM) is a major, multi-campus medical school located throughout the US state, U.S. state of Indiana and is both the Medical school, undergraduate and Graduate medical education, graduate medical school o ...

Indianapolis Indianapolis ( ), colloquially known as Indy, is the List of capitals in the United States, capital and List of municipalities in Indiana, most populous city of the U.S. state of Indiana and the county seat of Marion County, Indiana, Marion ...

in 1952. She took a number of years off to raise a large family of 6 children. She then returned to work in 1965–66 with Frederick Hecht in pediatrics and medical genetics at the

University of Oregon The University of Oregon (UO, U of O or Oregon) is a Public university, public research university in Eugene, Oregon, United States. Founded in 1876, the university is organized into nine colleges and schools and offers 420 undergraduate and gra ...

Medical School, now called the

Oregon Health & Science University Oregon Health & Science University (OHSU) is a public university, public research university, research university focusing primarily on health sciences with a main campus, including two hospitals, in Portland, Oregon. The institution was founded ...

(OHSU), in Portland where 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 Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cel ...

. 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 In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

for

haptoglobin Haptoglobin (abbreviated as Hp) is the protein that in humans is encoded by the ''HP'' gene. In blood plasma, haptoglobin binds with high affinity to ''free'' hemoglobin released from erythrocytes, and thereby inhibits its deleterious oxidativ ...

. The mapping of haptoglobin to 16q was the second instance in which a human gene was mapped to a specific

autosome An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

(non-sex chromosome), presaging the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

. Magenis joined the faculty at OHSU as an assistant professor, rising to be professor of pediatrics and of molecular and medical genetics. She succeeded Frederick Hecht as the director of the Cytogenetic Laboratory and Chromosome Clinic at the Child Development and Rehabilitation Center at OHSU. Her special interest continued to be in human chromosome mapping. Magenis died on February 4, 2014, after a long illness. Ellen Magenis is also associated with the

Smith–Magenis syndrome Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, ...

, 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.

References

External links

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 ''

Science Science is a systematic discipline that builds and organises knowledge in the form of testable hypotheses and predictions about the universe. Modern science is typically divided into twoor threemajor branches: the natural sciences, which stu ...

'' 1970: vol. 170, pp. 85–87 {{DEFAULTSORT:Magenis, R. Ellen 1925 births American pediatricians Medical geneticists American women pediatricians American geneticists Indiana University School of Medicine alumni Oregon Health & Science University faculty Oregon Health & Science University alumni 2014 deaths