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Andrea Superti-Furga
Andrea Superti-Furga (born 1959 in Milan) is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital (CHUV) and a professor at the Faculty of Medicine and Biology of the University of Lausanne. 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, Genoa, and Zurich, and obtained his MD degrees from Genoa in 1984 and from Zurich in 1992. During his studies he has been mentored by Paolo Durand, Victor McKusick, 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, before moving as a professor and chairman of the Department of Pediatrics to the University of Freiburg, Ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 has 3.26 million inhabitants. Its continuously built-up urban area (whose outer suburbs extend well beyond the boundaries of the administrative metropolitan city and even stretch into the nearby country of Switzerland) is the fourth largest in the EU with 5.27 million inhabitants. According to national sources, the population within the wider Milan metropolitan area (also known as Greater Milan), is estimated between 8.2 million and 12.5 million making it by far the largest metropolitan area in Italy and one of the largest in the EU.* * * * Milan is considered a leading alpha global city, with strengths in the fields of art, chemicals, commerce, design, education, entertainment, fashion, finance, healthcar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 Cloëtta Foundation (based in Zurich), since 1974. Laureates SourceCloetta See also * List of biomedical science awards This list of biomedical science awards is an index to articles on notable awards for biomedical sciences, a set of sciences applying portions of natural science or formal science, or both, to knowledge, interventions, or technology that are of u ... References External links Official website {{DEFAULTSORT:Cloetta Prize Biomedical awards Swiss awards Awards established in 1974 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 members of the T-box subfamily, Tbx15 is expressed in the notochord and primitive streak, where it assists with the formation and differentiation of the mesoderm. It is steadily downregulated after segmentation of the paraxial mesoderm. Expression of the T-box overall is a requirement for an embryo to remain viable. Heterozygous T-null mutations in mice result in short tails and some defects in sacral vertebrae. Homozygous null embryos display extreme deformities with mesodermal development: the axis of the body is shortened, the notochord fails to form, and posterior somites never develop. Embryonic death occurs around 10 days due to the failure to form the allantois. Tbx15 plays a relatively minor role within this family. Tbx15 plays a role ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sulfate Transporter
The sulfate transporter is a solute carrier family protein that in humans is encoded by the ''SLC26A2'' gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter (DTDST), and was first described by Hästbacka et al. in 1994. A defect in sulfate activation described by Superti-Furga in achondrogenesis type 1B was subsequently also found to be caused by genetic variants in the sulfate transporter gene. This sulfate (SO42−) transporter also accepts chloride, hydroxyl ions (OH−), and oxalate as substrates. SLC26A2 is expressed at high levels in developing and mature cartilage, as well as being expressed in lung, placenta, colon, kidney, pancreas and testis. Function The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. In chondrocytes, SLC26A2 functions to transport most of the cellular sulfate, which is critical for the sulfation of proteoglycans and normal cartilage fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 combines biology, chemistry, physics, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for '' in silico'' analyses of biological queries using computational and statistical techniques. Bioinformatics includes biological studies that use computer programming as part of their methodology, as well as specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidates genes and single nucleotide polymorphisms (SNPs). Often, such identification is made with the aim to better understand the genetic basis of disease, unique adaptations, desirable properties (e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratology
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 dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, mercury, alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek (word stem ), meaning "sign sent by the gods, portent, marvel, monster", and ('' -ology''), used to designate a discourse, treaty, science, theory ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 the body, and the hydroskeleton, a flexible internal skeleton supported by fluid pressure. Vertebrates are animals with a vertebral column, and their skeletons are typically composed of bone and cartilage. Invertebrates are animals that lack a vertebral column. The skeletons of invertebrates vary, including hard exoskeleton shells, plated endoskeletons, or spicules. Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invertebrates. Etymology The term ''skeleton'' comes . ''Sceleton'' is an archaic form of the word. Classification Skeletons can be defined by several attributes. Solid skeletons consist of hard substances, such as bone, cartilage, or cuticle. These can be further divided by locat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ( substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 census, the Province of Genoa, which in 2015 became the Metropolitan City of Genoa, had 855,834 resident persons. Over 1.5 million people live in the wider metropolitan area stretching along the Italian Riviera. On the Gulf of Genoa in the Ligurian Sea, Genoa has historically been one of the most important ports on the Mediterranean Sea, Mediterranean: it is currently the busiest in Italy and in the Mediterranean Sea and twelfth-busiest in the European Union. Genoa was the capital of Republic of Genoa, one of the most powerful maritime republics for over seven centuries, from the 11th century to 1797. Particularly from the 12th century to the 15th century, the city played a leading role in the commercial trade in Europe, becoming one o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 Rome and Genoa, in which subjects are taught in both German and Italian. It follows the German educational program from preschool to secondary school, finally leading to graduation with both the German and the Italian . History The German School of Milan was founded in 1886 as an educational centre for children of German businessmen living in northern Italy. Due to the drastic historical events of the early 20th century, its address changed numerous times. Its current location, close to the historical centre of Milan, was set in 1957 with great acclaim for its bilingual nature. In the seventies, the school and the Italian government established an educational curriculum which integrates subjects taught in Italian in to the existin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
