Angelo DiGeorge

Angelo M. DiGeorge
Angelo DiGeorge (right) and Bob Shprintzen at the "Deletion 22q11" Meeting in Rome in 2002
Born	April 15, 1921 Philadelphia
Died	October 11, 2009 (aged 88) Philadelphia
Alma mater	Temple University
Occupation	Pediatric Endocrinologist
Years active	1946–1989
Employer	Temple University School of Medicine
Known for	Discovery of DiGeorge syndrome
Home town	Philadelphia
Title	President, Lawson Wilkins Pediatric Endocrine Society
Term	1983–1984

Angelo M. DiGeorge^[1] (April 15, 1921 – October 11, 2009) was an Italian American physician and pediatric endocrinologist who is renowned for his research on an autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.

Early life and education

DiGeorge was the son of two Italian immigrants, Antonio DiGiorgio and his wife Emilia (née Taraborelli). He was born in South Philadelphia on April 15, 1921. His teacher at primary school changed his Italian surname DiGiorgio into the "American" DiGeorge.^[2] He graduated at the top of his class from South Philadelphia High School for Boys in 1939 and was awarded the competitive White Williams Scholarship at the Temple University, where he graduated with distinction in chemistry in 1943. DiGeorge received his medical degree with honors from Temple University School of Medicine in 1946, and completed his internship at Temple University Hospital. He then left Philadelphia from 1947 to 1949 to serve as Captain and Chief of the Medical Service for the U.S. Army 124th Station Hospital in Linz, Austria. After returning to Philadelphia, Angelo met his future wife, Natalie Picarello, who was a registered nurse at Temple Hospital. He completed his pediatric residency at St. Christopher's Hospital for Children and did a postdoctoral fellowship in endocrinology at the Jefferson Medical College in 1954.

Academic career

DiGeorge joined the Department of Pediatrics of Temple University School of Medicine in 1952. In 1967, he became a Professor of Pediatrics and an Emeritus Professor in 1991. Concurrently, he was also an attending physician at St. Christopher's, where he became the Chief of Endocrinology and Metabolism (1961–1989), and the Director of the Pediatric Clinical Research Center (1965–1982). He served on the Pediatric Endocrinology Subboard of the American Board of Pediatrics from 1987 until 1992. He was a founding member and past president (1983–1984) of the Lawson-Wilkins Pediatric Endocrine Society and was the primary author of the endocrinology chapter for the Nelson Textbook of Pediatrics,^[3] known by pediatricians around the world as the "Green Bible" for more than 40 years.

DiGeorge first gained international recognition in the mid-1960s for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect is now referred to as DiGeorge syndrome; alternate names include Velocardiofacial syndrome, Shprintzen Syndrome, and chromosome 22q11.2 deletion syndrome (the majority of affected individuals lack a distinct part of the long arm of chromosome 22). DiGeorge syndrome includes a pattern of more than 200 different defects, including hypoplastic thymus and parathyroid glands, conotruncal heart defects, and a characteristic facial appearance. Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial anomalies, and learning difficulties. It is now accepted that these two syndromes represent the different expression of a unique disorder manifesting at different stages of life. DiGeorge Syndrome is one of the most common genetic disorders known, occurring in about one every 4,000 livebirths. DiGeorge's original 1965 report^[4] and the initial paper^[5] reporting on this anomaly have been widely quoted and continues to garner citations.

On a personal level, he was described^[2] as a compassionate physician who viewed the patient as a whole person, a superb diagnostician, a keen observer, a great teacher, a masterful lecturer, an absorbing storyteller, an avid reader, a literary writer, and above all, a kind-hearted, fair-minded person. In addition to medicine, he had many other hobbies, including gardening, all of the performing arts, politics, stamp collecting, and Philadelphia sports, especially the Phillies. Dr. DiGeorge loved all things "Philly" and all things Italian. He first learned the art of debate on the debate team at South Philadelphia High School for Boys and he gladly engaged in animated debates on virtually any topic from sports to politics with his professional colleagues and at the family dinner table throughout his life. Dr Angelo DiGeorge was often invited to Italian scientific meetings, including the San Giovanni Rotondo Medical Genetic School and the Rome "Deletion 22q11" Meeting in 2002. It Rome, Angelo DiGeorge and Bob Shprintzen, the fathers of a unique disorder, met for the first time (see photo), although they had long been working on the same syndrome, living close to one another in the United States.

Death

DiGeorge died at the age of 88 years, on October 11, 2009, of kidney failure at his home in East Falls, Philadelphia.^[6]

References

1. This article incorporates text from a scholarly publication published under a copyright license that allows anyone to reuse, revise, remix and redistribute the materials in any form for any purpose: Tarani, L.; Digilio, M. C.; Dallapiccola, B.; Mc Donald-McGinn, D. M.; Marino, B. (2010). "Obituary of Dr. Angelo Di George". Italian Journal of Pediatrics. 36: 22. doi:10.1186/1824-7288-36-22. PMC 2845140. PMID 20202193. Please check the source for the exact licensing terms.
2. Tarani, L.; Digilio, M. C.; Dallapiccola, B.; Mc Donald-McGinn, D. M.; Marino, B. (2010). "Obituary of Dr. Angelo Di George". Italian Journal of Pediatrics. 36: 22. doi:10.1186/1824-7288-36-22. PMC 2845140. PMID 20202193.
3. Nelson Textbook of Pediatrics, 18th ed. 2007. ISBN 978-1-4160-5622-5.
4. A comment on another paper, Cooper, M.; Peterson, R.; Good, R. (1965). "A new concept of the cellular basis of immunity". The Journal of Pediatrics. 67 (5): 907. doi:10.1016/S0022-3476(65)81796-6.
5. DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. IV(1). White Plains, NY: March of Dimes-Birth Defects Foundation; 1968:116-21
6. Naedele, Walter F. (18 October 2009). "ANGELO M. DiGEORGE, 1921-2009 A St. Christopher's pioneer on ailment". The Philadelphia Inquirer. philly.com. Retrieved 2 November 2014.