R. Ellen Magenis

Ruth Ellen Magenis (1925 - 2014) 2

Ruth Ellen Magenis (1925 – 2014) was an American pediatrician, medical geneticist and cytogeneticist

Long-time director of the Oregon Health & Science University Clinical Cytogenetics Laboratory, Magenis also directed her own research laboratory and genetics clinic. Magenis took advantage of each technological breakthrough, combined with her clinical acumen, to stay on the cutting edge of cytogenetic research and clinical testing from the early days of gene mapping to clinical diagnosis to microdeletion syndrome delineation.

A founding fellow of the American College of Medical Genetics, she served on many editorial boards, made major research contributions to the field of genetics, and published over 150 manuscripts and 20 book chapters.

In the 1960s, Magenis and Frederick Hecht traced the 16q fragile site through a multigenerational family mapping linking the site to the gene for haptoglobin. The mapping of haptoglobin to 16q was only the second instance in which a human gene had been mapped to a specific autosome.

In the 1980s, along with Ann CM Smith and colleagues, she identified and described the condition that would become known as Smith-Magenis syndrome. 

Advocate for patients and their families through her work on the boards of PRISMS (National Smith-Magenis Syndrome Association), Angelman Syndrome Association, Prader-Willi Syndrome Association, the Multnomah County Prader-Willi Project Advisory Group and the Prader-Willi Parent Support Group of Oregon. 


Biography
  • Born Ruth Ellen Heath on September 24, 1925 in in Gary, Indiana
  • 1947 – Married Dr. Thomas Magenis (1918-1983) taking the name R. Ellen Magenis
  • 1948 – BA in zoology, Indiana University
  • 1952 – MD, Indiana University School of Medicine
  • Time out from medicine to raise 7 children…
  • 1965-1968 Residency training in pediatrics at the University of Oregon Medical School (Oregon Health & Science University (OHSU))
  • 1968-1971 Postdoctoral fellowship in Medical Genetics, OHSU
  • 1977 – Director of the OHSU Cytogenetics Laboratory helping to compile a national registry of human genetic errors
  • 1980 – Full professor of molecular and medical genetics, OHSU
  • 1993 – MRF Discovery Award, OHSU for her ‘significant, original contributions to health-related research in Oregon’
  • 2004 – American Cytogenetics Conference Distinguished Cytogeneticist Award 
  • 2011 – Professor emerita of molecular and medical genetics and pediatrics, OHSU
  • Died February 4, 2014 in Portland, Multnomah County, Oregon

Medical Eponyms
Smith-Magenis syndrome (1986)

Smith-Magenis Syndrome (SMS) is a rare neurobehavioral disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. Caused by particular genetic changes on chromosomal region 17p11.2, which contains the gene RAI1. [OMIM 182290]

Ann C.M. Smith et al in 1982, first reported interstitial deletion of the short arm of chromosome 17 in two unrelated patients (patients 1 and 2 in the 1986 report) who presented with facial clefts and congenital heart defects.

In 1984, Patil and Bartley reported a 4-year-old girl with an interstitial deletion of chromosome 17p11.2. She had mental retardation, hypotonia, speech delay, small ears, conductive hearing loss, esotropia, dental enamel dysplasia, and prominent premaxilla. Cardiac examination was normal. 

In 1986, Magenis, Smith et al described in detail the phenotype associated with an interstitial deletion of 17p11.2 in 7 further unrelated patients (following the 1982 report).

We describe a new and distinct syndrome involving an interstitial deletion of the short arm of chromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 as more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months.

Smith, Magenis et al 1986

Major Publications

References

Biography

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Studied at Univerisity of Cambridge - BA MB BChir. British doctor working in emergency medicine in Perth, Australia. Special interests include primary care and emergency medicine.

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

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