Andrea Superti-Furga (born

1959 Events January * January 1 - Cuba: Fulgencio Batista flees Havana when the forces of Fidel Castro advance. * January 2 - Lunar probe Luna 1 was the first man-made object to attain escape velocity from Earth. It reached the vicinity of E ...

Milan Milan ( , , Lombard: ; it, Milano ) is a city in northern Italy, capital of Lombardy, and the second-most populous city proper in Italy after Rome. The city proper has a population of about 1.4 million, while its metropolitan city h ...

) is a

Swiss Swiss may refer to: * the adjectival form of Switzerland * Swiss people Places * Swiss, Missouri * Swiss, North Carolina *Swiss, West Virginia * Swiss, Wisconsin Other uses *Swiss-system tournament, in various games and sports *Swiss Internation ...

Italian Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Ita ...

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 ...

geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processe ...

and molecular biologist. He is the head of the Division of Genetic Medicine at the

Lausanne University Hospital The Lausanne University Hospital (french: Centre hospitalier universitaire vaudois, CHUV), in Lausanne, is one of the five university hospitals in Switzerland. The Lausanne University Hospital is linked to the Faculty of Biology and Medicine of ...

(CHUV) and a professor at the Faculty of Medicine and Biology of the

University of Lausanne The University of Lausanne (UNIL; french: links=no, Université de Lausanne) in Lausanne, Switzerland was founded in 1537 as a school of Protestant theology, before being made a university in 1890. The university is the second oldest in Switzer ...

Career

Superti-Furga was educated at the

German School of Milan The German School of Milan (german: Deutsche Schule Mailand, DSM; it, Scuola Germanica di Milano), founded in 1886, is an international institution located in Milan, Italy. It is one of the three German schools in Italy, the other two based in R ...

in Milan, where he obtained his ''Abitur'' in 1978. He studied medicine at the Universities of

Genoa Genoa ( ; it, Genova ; lij, Zêna ). is the capital of the Italian region of Liguria and the List of cities in Italy, sixth-largest city in Italy. In 2015, 594,733 people lived within the city's administrative limits. As of the 2011 Italian ce ...

, and Zurich, and obtained his MD degrees from

in 1984 and from Zurich in 1992. During his studies he has been mentored by Paolo Durand,

Victor McKusick Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its us ...

Andrea Prader Andrea is a given name which is common worldwide for both males and females, cognate to Andreas, Andrej and Andrew. Origin of the name The name derives from the Greek word ἀνήρ (''anēr''), genitive ἀνδρός (''andrós''), that ref ...

, Andres Giedion, Richard Gitzelmann, Beat Steinmann, and Sergio Fanconi. He worked with Francesco Ramirez on genetic diseases in both Zurich and New York. In 2002, he was appointed professor for Molecular Pediatrics at the

, before moving as a professor and chairman of the Department of Pediatrics to the

University of Freiburg The University of Freiburg (colloquially german: Uni Freiburg), officially the Albert Ludwig University of Freiburg (german: Albert-Ludwigs-Universität Freiburg), is a public university, public research university located in Freiburg im Breisg ...

, Germany in 2005. In 2010, he was awarded the Leenaards Chair of Excellence in Pediatrics at the

. From 2014 to 2015, he was director of the Department of Pediatrics in Lausanne. Since 2016, he has been professor and head of the Division of Genetic Medicine at the

, Switzerland.

Research

Superti-Furga's research activities have been focused on

inborn errors of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substra ...

, inherited disorders of connective tissue, genetic bone disorders and

skeletal dysplasias A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside ...

dysmorphology Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in Dysmorphic feature, dysmorph ...

, neurodevelopment, and

bioinformatics Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combi ...

. He was involved in the discovery of the molecular and biochemical basis of genetic disorders, such as the Ehlers-Danlos syndrome type IV related to collagen type III, the sulfate transporter (''SLC26A2'')-related chondrodysplasias, the

TBX15 T-box transcription factor TBX15 is protein that is encoded in humans by the Tbx15 gene, mapped to Chromosome 3 in mice and Chromosome 1 in humans. Tbx15 is a transcription factor that plays a key role in embryonic development. Like other member ...

-related

Cousin syndrome Cousin syndrome is a genetic condition characterized by short stature at birth, a short neck with low-positioned external ears, as well as congenital malformations of the skeletal system affecting the shoulders, the pelvis, the neck, and the limbs ...

, the '' FAM111A''-related disorders Kenny-Caffey syndrome and Osteocraniostenosis, the

tartrate-resistant acid phosphatase Tartrate-resistant acid phosphatase (TRAP or TRAPase), also called acid phosphatase 5, tartrate resistant (ACP5), is a glycosylated monomeric metalloprotein enzyme expressed in mammals. It has a molecular weight of approximately 35kDa, a basic iso ...

(''ACP5'')-related spondyloenchondrodysplasia, the

SFRP4 Secreted frizzled-related protein 4 is a protein that in humans is encoded by the ''SFRP4'' gene. Function Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putati ...

-related Pyle disease, the

HSPA9 Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a protein that in humans is encoded by the ''HSPA9'' gene. Function The product encoded by this gene belongs to the heat shock protein 70 family which contains both h ...

-related EVEN-PLUS syndrome,

sialic acid Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone. The term "sialic acid" (from the Greek for saliva, - ''síalon'') was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this gr ...

deficiency related to '' NANS'' and the malformation disorders related to

EN1 (gene) Homeobox protein engrailed-1 is a protein that in humans is encoded by the ''EN1'' gene. Function Homeobox-containing genes are thought to have a role in controlling development. In ''Drosophila'', the ''engrailed'' (''en'') gene plays an imp ...

and the ''EN1''-regulating lncRNA element, ''MAENLI''. According to Google Scholar, Superti-Furga has published more than 300 articles and holds an h-index of 79 (February 2022).

Personal life

Superti-Furga is married to Sheila Unger, geneticist at the

. He is the brother of

Giulio Superti-Furga Giulio Superti-Furga (born 17 May 1962 in Milan) is an Italian molecular and systems biologist based in Vienna, Austria. He is the Scientific Director of CeMM Research Center for Molecular Medicine of the Austrian Academy of SciencesCeMM, and P ...

, a molecular and system biologist, director of the Center for Molecular Medicine in Vienna.

Distinctions

He is the recipient of the 2015 Maroteaux Award of the International Skeletal Dysplasia Society, the 2002

Cloëtta Prize The Cloëtta Prize (german: Cloëtta-Preis; french: Prix Cloëtta) is a Swiss distinction to honour personalities who have distinguished themselves in biomedical research. Worth 50,000 Swiss francs, it has been awarded annually by the Max Clo� ...

by the Max Cloëtta Foundation, and the 1995 Georg-Friedrich Götz prize of the Medical School of the University of Zurich. In 2008, he was Santa Chiara visiting chair at

University of Siena The University of Siena ( it, Università degli Studi di Siena, abbreviation: UNISI) in Siena, Tuscany, is one of the oldest and first publicly funded universities in Italy. Originally called ''Studium Senese'', the institution was founded in 1240 ...

's School of Medicine. He is a member of the executive board of the Swiss Academy of Medical Sciences (SAMW), and member of the German National

Academy of Sciences Leopoldina The German National Academy of Sciences Leopoldina (german: Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften), short Leopoldina, is the national academy of Germany, and is located in Halle (Saale). Founded ...

. He is president of the committee for pediatrics of the Pfizer Prize Foundation as well as member of the scientific board of the Novartis Foundation for Medical-Biological Research.

Selected works

Papers

* * * * * * * *

Books

References

External links

* * Website of Lausanne University Hospital'
Division of Genetic Medicine
{{DEFAULTSORT:Superti-Furga, Andrea 1959 births Living people University of Milan alumni University of Genoa alumni University of Zurich alumni University of Freiburg alumni Academic staff of the University of Lausanne Human geneticists Italian geneticists Swiss physicians Italian physicians Italian pediatricians Swiss pediatricians