Angelo DiGeorge
Encyclopedia
Angelo M. DiGeorge 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
.
on April 15, 1921. His teacher at primary school changed his Italian surname DiGiorgio into the "american" DiGeorge. 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 post-doctoral fellowship in endocrinology at the Jefferson Medical College in 1954.
DiGeorge first gained international recognition in the mid-1960's for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect is now-a-days referred to as DiGeorge syndrome
or Velocardiofacial syndrome (Shprintzen Syndrome) or chromosome 22q11.2 deletion syndrome, since the majority of affected individuals have a distinct part of the long arm of chromosome 22 missing. DiGeorge syndrome includes a pattern of more than 200 different defects, including hypoplastic thymus
and parathyroid gland
s, 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 disorder
s known, occurring in about one every 4,000 livebirths. DiGeorge's original 1965 report and the initial paper reporting on this anomaly have been widely quoted and continues to garner citations.
On a personal level, he was described 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 was in Rome that 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. Dr. Angelo M. DiGeorge died at age of 88 years, on October 11, 2009 of kidney failure at his home in Philadelphia.
Italian American
An Italian American , is an American of Italian ancestry. The designation may also refer to someone possessing Italian and American dual citizenship...
physician
Physician
A physician is a health care provider who practices the profession of medicine, which is concerned with promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments...
and pediatric endocrinologist who is renowned for his research on an autosomal dominant immunodeficiency
Immunodeficiency
Immunodeficiency is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent. Immunodeficiency may also decrease cancer immunosurveillance. Most cases of immunodeficiency are acquired but some people are born with defects in their immune system,...
now commonly referred to as DiGeorge syndrome
DiGeorge syndrome
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome , DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a...
.
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 PhiladelphiaSouth Philadelphia
South Philadelphia, nicknamed South Philly, is the section of Philadelphia bounded by South Street to the north, the Delaware River to the east and south, and the Schuylkill River to the west.-History:...
on April 15, 1921. His teacher at primary school changed his Italian surname DiGiorgio into the "american" DiGeorge. 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
Temple University
Temple University is a comprehensive public research university in Philadelphia, Pennsylvania, United States. Originally founded in 1884 by Dr. Russell Conwell, Temple University is among the nation's largest providers of professional education and prepares the largest body of professional...
where he graduated with distinction in chemistry in 1943. DiGeorge received his medical degree with Honors from Temple University School of Medicine
Temple University School of Medicine
The Temple University School of Medicine , located on the Health Science Campus of Temple University in Philadelphia, PA, is one of 7 schools of medicine in Pennsylvania conferring the doctor of medicine degree. It also confers the Ph.D. and M.S. degrees in biomedical sciences.The 2011 U.S...
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
Army Medical Department (United States)
The Army Medical Department of the U.S. Army – known as the AMEDD – comprises the Army's six medical Special Branches of officers and medical enlisted soldiers. It was established as the "Army Hospital" in July 1775 to coordinate the medical care required by the Continental Army during the...
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
Residency
Residency is the act of establishing or maintaining a residence in a given place.-United States of America:It is important in terms of politics, as candidates must maintain residency within the district in which they intend to run. Requirements vary by jurisdiction, and sometimes by the political...
at St. Christopher's Hospital for Children
St. Christopher's Hospital for Children
St. Christopher's Hospital for Children is a 189 bed non-sectarian children’s hospital located near Center City, Philadelphia. It is one of the oldest full-service hospitals in the United States totally dedicated to the care of children. St...
and did a post-doctoral 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, known by pediatricians around the world as the "Green Bible" for more than 40 years.DiGeorge first gained international recognition in the mid-1960's for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect is now-a-days referred to as DiGeorge syndrome
DiGeorge syndrome
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome , DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a...
or Velocardiofacial syndrome (Shprintzen Syndrome) or chromosome 22q11.2 deletion syndrome, since the majority of affected individuals have a distinct part of the long arm of chromosome 22 missing. DiGeorge syndrome includes a pattern of more than 200 different defects, including hypoplastic thymus
Thymus
The thymus is a specialized organ of the immune system. The thymus produces and "educates" T-lymphocytes , which are critical cells of the adaptive immune system....
and parathyroid gland
Parathyroid gland
The parathyroid glands are small endocrine glands in the neck that produce parathyroid hormone. Humans usually have four parathyroid glands, which are usually located on the rear surface of the thyroid gland, or, in rare cases, within the thyroid gland itself or in the chest...
s, 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
Learning difficulties
Learning difficulties may refer to:*The conditions known in North America as learning disabilities, which are called "specific learning difficulties" in the United Kingdom...
. 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 disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
s known, occurring in about one every 4,000 livebirths. DiGeorge's original 1965 report and the initial paper reporting on this anomaly have been widely quoted and continues to garner citations.
On a personal level, he was described 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
Gardening
Gardening is the practice of growing and cultivating plants. Ornamental plants are normally grown for their flowers, foliage, or overall appearance; useful plants are grown for consumption , for their dyes, or for medicinal or cosmetic use...
, all of the performing arts
Performing arts
The performing arts are those forms art which differ from the plastic arts insofar as the former uses the artist's own body, face, and presence as a medium, and the latter uses materials such as clay, metal or paint which can be molded or transformed to create some physical art object...
, politics
Politics
Politics is a process by which groups of people make collective decisions. The term is generally applied to the art or science of running governmental or state affairs, including behavior within civil governments, but also applies to institutions, fields, and special interest groups such as the...
, 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 was in Rome that 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. Dr. Angelo M. DiGeorge died at age of 88 years, on October 11, 2009 of kidney failure at his home in Philadelphia.