Angelo Mario DiGeorge (April 15, 1921 – October 11, 2009) was an
Italian American
Italian Americans ( it, italoamericani or ''italo-americani'', ) are Americans who have full or partial Italian ancestry. The largest concentrations of Italian Americans are in the urban Northeast and industrial Midwestern metropolitan areas, ...
physician
A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through th ...
and
pediatric endocrinologist Pediatric endocrinology (British: Paediatric) is a medical subspecialty dealing with disorders of the endocrine glands, such as variations of physical growth and sexual development in childhood, diabetes and many more.
By age, pediatric endocrinol ...
from Philadelphia who pioneered the research on the
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
immunodeficiency
Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that a ...
now commonly referred to as
DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent in ...
.
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
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. He graduated at the top of his class from South Philadelphia High School for Boys in 1939 and was awarded the White Williams Scholarship at the
Temple University
Temple University (Temple or TU) is a public state-related research university in Philadelphia, Pennsylvania. It was founded in 1884 by the Baptist minister Russell Conwell and his congregation Grace Baptist Church of Philadelphia then called Ba ...
, where he graduated with distinction in chemistry in 1943. DiGeorge received his medical degree with honors from
Temple University School of Medicine
The Lewis Katz School of Medicine at Temple University (LKSOM), located on the Health Science Campus of Temple University in Philadelphia, PA, is one of 7 schools of medicine in Pennsylvania conferring the M.D. (Doctor of Medicine) degree. It also ...
in 1946, and completed his internship at
Temple University Hospital
Temple University Hospital (TUH) in Philadelphia, Pennsylvania is an academic medical center in the United States which is a part of the healthcare network Temple Health. It is the chief clinical training site for the Temple University School of ...
. He then left Philadelphia from 1947 to 1949 to serve as captain and Chief of the
Medical Service
Health care or healthcare is the improvement of health via the prevention, diagnosis, treatment, amelioration or cure of disease, illness, injury, and other physical and mental impairments in people. Health care is delivered by health profess ...
for the
U.S. Army
The United States Army (USA) is the land service branch of the United States Armed Forces. It is one of the eight U.S. uniformed services, and is designated as the Army of the United States in the U.S. Constitution.Article II, section 2, cl ...
124th Station Hospital in
Linz, Austria
Linz ( , ; cs, Linec) is the capital of Upper Austria and third-largest city in Austria. In the north of the country, it is on the Danube south of the Czech border. In 2018, the population was 204,846.
In 2009, it was a European Capital of ...
. 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 may refer to:
* Domicile (law), the act of establishing or maintaining a residence in a given place
** Permanent residency, indefinite residence within a country despite not having citizenship
* Residency (medicine), a stage of postgrad ...
at
St. Christopher's Hospital for Children
St. Christopher's Hospital for Children is a pediatric acute care hospital located in Philadelphia, Pennsylvania. The hospital has 188 beds and is affiliated with both the Drexel University College of Medicine and the Temple University School of Me ...
and did a postdoctoral fellowship in endocrinology at the
Jefferson Medical College
Thomas Jefferson University is a private research university in Philadelphia, Pennsylvania. Established in its earliest form in 1824, the university officially combined with Philadelphia University in 2017. To signify its heritage, the univer ...
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
The American Board of Pediatrics (ABP) was founded in 1933. It is one of the 24 certifying boards of the American Board of Medical Specialties (ABMS). The ABP is an independent and nonprofit organization. The ABP's mission is to advance child hea ...
from 1987 until 1992. He was a founding member and past president (1983–1984) of the Lawson-Wilkins Pediatric Endocrine Society and was the 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-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
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent in ...
; 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
Chromosome 22 is one of the 23 pairs of chromosomes in human cell (biology), cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and ...
). DiGeorge syndrome includes a pattern of more than 200 different defects, including
hypoplastic
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.thymus
The thymus is a specialized primary lymphoid organ of the immune system. Within the thymus, thymus cell lymphocytes or ''T cells'' mature. T cells are critical to the adaptive immune system, where the body adapts to specific foreign invaders. ...
and
parathyroid gland
Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods. Humans usually have four parathyroid glands, located on the back of the thyroid gland in variable locations. The parathyroid gland produces and secretes pa ...
s, conotruncal heart defects, and a characteristic facial appearance. Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects,
cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
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
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
s known, occurring in about one every 4,000 livebirths. DiGeorge's original 1965 report and the initial paperDiGeorge 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 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 is the practice of growing and cultivating plants as part of horticulture. In gardens, ornamental plants are often grown for their flowers, foliage, or overall appearance; useful plants, such as root vegetables, leaf vegetables, fruits ...
, all of the
performing arts
The performing arts are arts such as music, dance, and drama which are performed for an audience. They are different from the visual arts, which are the use of paint, canvas or various materials to create physical or static art objects. Perform ...
,
politics
Politics (from , ) is the set of activities that are associated with making decisions in groups, or other forms of power relations among individuals, such as the distribution of resources or status. The branch of social science that studies ...
,
stamp collecting
Stamp collecting is the collecting of postage stamps and related objects. It is an area of philately, which is the study (or combined study and collection) of stamps. It has been one of the world's most popular hobbies since the late nineteenth ...
, and Philadelphia sports, especially the
Philadelphia Phillies
The Philadelphia Phillies are an American professional baseball team based in Philadelphia. They compete in Major League Baseball (MLB) as a member of the National League (NL) National League East, East division. Since 2004, the team's home sta ...
. 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 there in Rome that Angelo DiGeorge and Bob Shprintzen, the fathers of the unique disorder, met for the first time, 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
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as eit ...
at his home in
East Falls, Philadelphia
East Falls (also The Falls, formerly the Falls of Schuylkill) is a neighborhood in the Northwest section of Philadelphia, Pennsylvania, in the United States. It lies on the east bank of the "Falls of the Schuylkill," cataracts submerged in 182 ...