Andrea Superti-Furga (born 1959 in Milan) is a

Swiss Swiss most commonly refers to: * the adjectival form of Switzerland * Swiss people Swiss may also refer to: Places * Swiss, Missouri * Swiss, North Carolina * Swiss, West Virginia * Swiss, Wisconsin Other uses * Swiss Café, an old café located ...

-Italian

pediatrician Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth ...

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 process ...

and molecular biologist.

Career

Superti-Furga was educated at the German School of Milan in Milan, where he obtained his ''Abitur'' in 1978. He studied medicine at the Universities of

Milan Milan ( , , ; ) is a city in northern Italy, regional capital of Lombardy, the largest city in Italy by urban area and the List of cities in Italy, second-most-populous city proper in Italy after Rome. The city proper has a population of nea ...

Genoa Genoa ( ; ; ) is a city in and the capital of the Italian region of Liguria, and the sixth-largest city in Italy. As of 2025, 563,947 people live within the city's administrative limits. While its metropolitan city has 818,651 inhabitan ...

, and

Zurich Zurich (; ) is the list of cities in Switzerland, largest city in Switzerland and the capital of the canton of Zurich. It is in north-central Switzerland, at the northwestern tip of Lake Zurich. , the municipality had 448,664 inhabitants. The ...

, obtained his MD degrees from

in 1984 and from Zurich in 1992 and is board certified in paediatrics and in genetics. 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 ...

, Andrea Prader, 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

University of Lausanne The University of Lausanne (UNIL; ) 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 Switzerland, and one of the oldest universities ...

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

University of Freiburg The University of Freiburg (colloquially ), officially the Albert Ludwig University of Freiburg (), is a public university, public research university located in Freiburg im Breisgau, Baden-Württemberg, Germany. The university was founded in 1 ...

, 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. From 2016 to 2023, he has been head of Genetic Medicine at the

Lausanne University Hospital The Lausanne University Hospital (, CHUV), in Lausanne, is one of the five Teaching hospital, university hospitals in Switzerland. The Lausanne University Hospital is linked to the Faculty of Biology and Medicine of the University of Lausanne, ...

, Switzerland. Since 2023, he is senior consultant at Genetica AG in Zurich and Lausanne.

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 ( substr ...

, inherited disorders of connective tissue, genetic bone disorders and

skeletal dysplasias An osteochondrodysplasia,Etymology: . or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if t ...

, dysmorphology, neurodevelopment, and

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

. He was involved in the discovery of the molecular and biochemical basis of a number 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) or TRAP5b, is a glycosylated monomeric metalloprotein enzyme expressed in mammals. It has a molecular weight of approximately 35kDa, ...

(''ACP5'')-related spondyloenchondrodysplasia, the SFRP4-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 ...

-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" () was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is ''N''-acetylneuraminic acid ...

deficiency related to '' NANS'', the malformation disorders related to EN1 (gene), and the ''EN1''-regulating lncRNA element, ''MAENLI'', and the TIMES syndrome related to the VRAC channel subunit LRRC8C. According to Google Scholar, Superti-Furga has published more than 350 articles and holds an h-index of 89 (October 2024).

Personal life

Superti-Furga is married to geneticist Sheila Unger, MD. He is the brother of Giulio Superti-Furga, 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 (; ) 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 Cloëtta Foundation (based in Zurich), since 19 ...

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 (, abbreviation: UNISI), located in Siena, Tuscany, holds the distinction of being Italy's first publicly funded university as well as one of the oldest, originally established as ''Studium Senese'' in 1240. As of 2022, it ...

's School of Medicine. He has a member of the executive board of the Swiss Academy of Medical Sciences (SAMW), and he has been president of the committee for pediatrics of the Pfizer Prize Foundation. He is member of the German National

Academy of Sciences Leopoldina The German National Academy of Sciences Leopoldina (), in short Leopoldina, is the national academy of Germany, and is located in Halle (Saale). Founded on 1 January 1652, based on academic models in Italy, it was originally named the ''Academi ...

. as well as member of the scientific board of the Novartis Foundation for Medical-Biological Research.

Selected works

Papers

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Books

References

External links

* {{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