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

pediatrician Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the ...

medical geneticist Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the caus ...

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 a ...

. 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 Indianapolis (), colloquially known as Indy, is the state capital and most populous city of the U.S. state of Indiana and the seat of Marion County. According to the U.S. Census Bureau, the consolidated population of Indianapolis and 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 Medical School, now called the

Oregon Health & Science University Oregon Health & Science University (OHSU) is a public research university focusing primarily on health sciences with a main campus, including two hospitals, in Portland, Oregon. The institution was founded in 1887 as the University of Oregon Medi ...

(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 A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. Based on their frequency, fragile sites are classified ...

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 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 allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...

(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- 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, difficulty sl ...

, 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'' 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