Sammy Basso
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Sammy Basso
Sammy Basso (1 December 1995 – 5 October 2024) was an Italian biologist, patient of progeria and one of the oldest known survivors of the disease. Basso also took part in clinical trials for which he carried out research. Early life and education Basso was born in 1995 in Schio, Italy, and grew up in Tezze sul Brenta, a small town near Venice. At the age of 2, he was diagnosed with progeria, also known as Hutchinson-Gilford syndrome, a rare genetic disorder that accelerates aging. In the world a mere 130 cases of progeria have been recognized. From the age of 5, he was a friend of Sam Berns, a person with the same condition. Despite the challenges, his family encouraged him to attend school and participate in everyday activities. He earned a master's degree in molecular biology, contributing to significant research efforts aimed at understanding and treating the disease. Youth Through research on the Internet, Basso's family found an American association, the Sunshine Foun ...
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Schio
Schio () is a town and comune in the province of Vicenza (region of Veneto, northern Italy) situated north of Vicenza and east of the Lake Garda. It is surrounded by the Little Dolomites (Italian Prealps) and Mount Pasubio. History Its name comes from Latin: ''escletum'' was a wood of oaks and it was first used in a document of some Benedictines from Vicenza. The first settlements were around two old hills, where now there are respectively the ruins of an old castle and a neoclassical cathedral. By the 12th century Schio had become an important centre of prosperous wool manufacturing. The city was ruled by the Venetian Maltraversi family until 1311. Schio is now an industrial town thanks to Alessandro Rossi, who founded the biggest Italian wool firm (Lanerossi) in the 19th century. Rossi also arranged the building of houses, nurseries, schools, theatres and gardens for his workers. The most important textile factories in Schio were Lanerossi, Conte and Cazzola. Schio was ca ...
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Natural Sciences
Natural science or empirical science is one of the branches of science concerned with the description, understanding and prediction of natural phenomena, based on empirical evidence from observation and experimentation. Mechanisms such as peer review and reproducibility of findings are used to try to ensure the validity of scientific advances. Natural science can be divided into two main branches: life science and physical science. Life science is alternatively known as biology. Physical science is subdivided into branches: physics, astronomy, Earth science and chemistry. These branches of natural science may be further divided into more specialized branches (also known as fields). As empirical sciences, natural sciences use tools from the formal sciences, such as mathematics and logic, converting information about nature into measurements that can be explained as clear statements of the " laws of nature". Modern natural science succeeded more classical approaches to natura ...
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Lonafarnib
Lonafarnib, sold under the brand name Zokinvy, is a medication used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain processing-deficient progeroid laminopathies in people one year of age and older. It is under trial for its use as combination treatment for Hepatitis D Virus. The most common side effects included nausea, vomiting, headache, diarrhea, infection, decreased appetite and fatigue. Lonafarnib was approved for medical use in the United States in November 2020, and in the European Union in July 2022. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication. Medical uses Lonafarnib is indicated to be used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain other processing-deficient progeroid laminopathies in people one year of age and older. Ongoing studies and clinical trials have found a correlation of lonafarnib treat ...
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Bethesda, Maryland
Bethesda () is an unincorporated, census-designated place in southern Montgomery County, Maryland, United States. Located just northwest of Washington, D.C., it is a major business and government center of the Washington metropolitan region and a national center for medical research. According to the 2020 census, the community had a population of 68,056. Etymology It takes its name from a local church, the Bethesda Meeting House (1820, rebuilt 1849), which in turn took its name from Jerusalem's Pool of Bethesda. History Bethesda is located in the traditional territory of the indigenous Native Piscataway and Nacotchtank at the time of European colonization. Fur trader Henry Fleet became the first European to visit the area, reaching it by sailing up the Potomac River. He stayed with the Piscataway tribe from 1623 to 1627, either as a guest or prisoner (historical accounts differ). Fleet eventually secured funding for another expedition to the region and was later gra ...
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Progerin
Progerin (UniProt# P02545-6) is a truncated version of the lamin A protein involved in the pathology of Hutchinson–Gilford progeria syndrome. Progerin is most often generated by a sporadic single point nucleotide polymorphism c.1824 C>T (GGC -> GGT, p.Gly608Gly) in the gene that codes for matured Lamin A. This mutation activates a cryptic splice site that induces a larger mutation in the processed prelamin A messenger RNA, causing the deletion of a 50 amino-acid Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 a ... group near the C-terminus of the prelamin A protein. The endopeptidase ZMPSTE24 cannot cleave between the missing RSY - LLG amino acid sequence (as seen in the figure) during the maturation of Lamin A, due to the deletion of the 50 amino acids which included that sequence. ...
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Lamins A And C
Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the ''LMNA'' gene. Lamin A/C belongs to the lamin family of proteins. Function In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In Hutchinson–Gilford progeria syndrome, a 50-amino acid deletion in prelamin A (amino acids 607–656) removes the site for the second endoproteolytic cleavage. Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. The nuclear lamina consist of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lam ...
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Progeria Research Foundation
The Progeria Research Foundation (PRF) is a nonprofit organization, non-profit organization dedicated to developing treatments and, ultimately, a cure for progeria, a congenital disorder. The Foundation was established in 1999 by the family and friends of Sam Berns, a child with progeria, including Dr. Leslie Gordon and Dr. Scott Berns, his parents, and Audrey Gordon, his aunt.Moore, Keith. Old at Age 3: The Story of Zachary Moore' Old At Age 3, 2007 , pp. 11–13 From their website, the Foundation's mission statement is: "To discover treatments and the cure for Progeria and its aging related disorders." In 2003, The Progeria Research Foundation helped to discover the gene mutation that causes progeria and developed a diagnostic test for it. In 2020 the American Food and Drug Administration approved the use of lonafarnib in children with the disease based on research and funding provided by the Foundation. It is the first and only certified medical protocol for the disease. One of ...
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Sergio Mattarella
Sergio Mattarella (; born 23 July 1941) is an Italian politician and jurist who has served as the president of Italy since 2015. He is the longest-serving president in the history of the Italian Republic. Since Giorgio Napolitano's death in 2023, Mattarella has also been the only living Italian president. A Catholic leftist politician, Mattarella was a leading member of the Christian Democracy (Italy), Christian Democracy (CD) party from the early 1980s until its dissolution. He served as Italian Minister for Parliamentary Relations, Minister for Parliamentary Relations from 1987 to 1989, and Italian Minister of Education, Minister of Education from 1989 to 1990. In 1994, Mattarella was among the founders of the Italian People's Party (1994), Italian People's Party (PPI), serving as Deputy Prime Minister of Italy from 1998 to 1999, and Italian Minister of Defence, Minister of Defence from 1999 to 2001. He joined Democracy is Freedom – The Daisy, The Daisy in 2002 and was one ...
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Motu Proprio
In law, (Latin for 'on his own impulse') describes an official act taken without a formal request from another party. Some jurisdictions use the term for the same concept. In Catholic canon law, it refers to a document issued by the pope on his own initiative and personally signed by him.Oxford Dictionary of the Christian Church (Oxford University Press 2005 ), s.v. motu proprio Such a document may be addressed to the whole church, to part of it, or to some individuals. The first papal was promulgated by Pope Innocent VIII in 1484. It continues to be a common form of papal rescript, especially when establishing institutions, making minor changes to law or procedure, and when granting favours to persons or institutions. Catholic Church Effect An important effect of issuing a document in this way is that a rescript containing the clause is valid and produces its effect even in cases where fraud would ordinarily have vitiated the document, since the pope does not rely o ...
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Order Of Merit Of The Italian Republic
The Order of Merit of the Italian Republic () is the most senior Italian order of merit. It was established in 1951 by the second President of Italy, President of the Italian Republic, Luigi Einaudi. The highest-ranking honour of the Republic, it is awarded for "merit acquired by the nation" in the fields of science, literature, arts, economy, public service, and social, philanthropic and humanitarian activities and for long and conspicuous service in civilian and military careers. The post-nominal letters for the order are OMRI. The order effectively replaced national orders such as the Civil Order of Savoy (1831), the Order of the Crown of Italy (1868), the Order of Saints Maurice and Lazarus (1572) and the Supreme Order of the Most Holy Annunciation (1362). Grades Investiture takes place twice a year – on 2 June, the anniversary of the 1946 Italian institutional referendum, foundation of the Republic, and on 27 December, the anniversary of the promulgation of the Cons ...
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Molecular Biology
Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactions. Though cells and other microscopic structures had been observed in living organisms as early as the 18th century, a detailed understanding of the mechanisms and interactions governing their behavior did not emerge until the 20th century, when technologies used in physics and chemistry had advanced sufficiently to permit their application in the biological sciences. The term 'molecular biology' was first used in 1945 by the English physicist William Astbury, who described it as an approach focused on discerning the underpinnings of biological phenomena—i.e. uncovering the physical and chemical structures and properties of biological molecules, as well as their interactions with other molecules and how these interactions explain observ ...
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Master Of Science
A Master of Science (; abbreviated MS, M.S., MSc, M.Sc., SM, S.M., ScM or Sc.M.) is a master's degree. In contrast to the Master of Arts degree, the Master of Science degree is typically granted for studies in sciences, engineering and medicine and is usually for programs that are more focused on scientific and mathematical subjects; however, different universities have different conventions and may also offer the degree for fields typically considered within the humanities and social sciences. While it ultimately depends upon the specific program, earning a Master of Science degree typically includes writing a thesis. The Master of Science degree was introduced at the University of Michigan in 1858. One of the first recipients of the degree was De Volson Wood, who was conferred a Master of Science degree at the University of Michigan in 1859. Algeria Algeria follows the Bologna Process. Australia Australian universities commonly have coursework or research-based Master o ...
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