Marina Cavazzana
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Marina Cavazzana
Marina Cavazzana is a professor of Paediatric Immunology at the Necker-Enfants Malades Hospital and the Imagine Institute, as well as an academic at Paris Descartes University. She was awarded the Irène Joliot-Curie Prize in 2012 and elected to the National Academy of Medicine in 2019. Early life and education Cavazzana was born in Venice. Her father worked on the railway and her mother was a teacher. She studied medicine in Padua, where she completed her residency at the University of Padua. She moved to Paris, where she earned her doctorate at the Paris Diderot University studying bone marrow transplants with Élaine Gluckman at the Hôpital Saint-Louis. Research and career Cavazzana joined the Necker-Enfants Malades Hospital in 1987, where she worked with Alain Fischer and Claude Gricelli. She was appointed to Professor of Immunology in 1994. She served as Director of the Institut national de la santé et de la recherche médicale (INSERM) in 1994. In 2003 she was ma ...
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University Of Padua
The University of Padua ( it, Università degli Studi di Padova, UNIPD) is an Italian university located in the city of Padua, region of Veneto, northern Italy. The University of Padua was founded in 1222 by a group of students and teachers from Bologna. Padua is the second-oldest university in Italy and the world's fifth-oldest surviving university. In 2010, the university had approximately 65,000 students. In 2021, it was ranked second "best university" among Italian institutions of higher education with more than 40,000 students according to Censis institute, and among the best 200 universities in the world according to ARWU. History The university is conventionally said to have been founded in 1222 when a large group of students and professors left the University of Bologna in search of more academic freedom ('Libertas scholastica'). The first subjects to be taught were law and theology. The curriculum expanded rapidly, and by 1399 the institution had divided in two: a ''Univ ...
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Sickle Cell Disease
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain (known as a sickle cell crisis), anemia, swelling in the hands and feet, bacterial infections and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years. Sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene (''HBB'') that makes haemoglobin, one from each parent. This gene occurs in chromosome 11. Several subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can be set off by tempera ...
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University Of Zurich
The University of Zürich (UZH, german: Universität Zürich) is a public research university located in the city of Zürich, Switzerland. It is the largest university in Switzerland, with its 28,000 enrolled students. It was founded in 1833 from the existing colleges of theology, law, medicine which go back to 1525, and a new faculty of philosophy. Currently, the university has seven faculties: Philosophy, Human Medicine, Economic Sciences, Law, Mathematics and Natural Sciences, Theology and Veterinary Medicine. The university offers the widest range of subjects and courses of any Swiss higher education institution. History The University of Zurich was founded on April 29, 1833, when the existing colleges of theology, the ''Carolinum'' founded by Huldrych Zwingli in 1525, law and medicine were merged with a new faculty of Philosophy. It was the first university in Europe to be founded by the state rather than a monarch or church. In the university's early years, the 183 ...
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American Society Of Hematology
The American Society of Hematology (ASH) is a professional organization representing hematologists. It was founded in 1958. Its annual meeting is held in December of every year and has attracted more than 30,000 attendees. The society publishes the medical journal ''Blood'', the most cited peer-reviewed publication in the field, and ''Blood Advances'', an online, peer-reviewed open-access journal. The first official ASH meeting was held in Atlantic City, New Jersey, in April 1958. More than 300 hematologists met together to discuss the key research and clinical issues related to blood and blood diseases. Since the first gathering, ASH has been an important member in the development of hematology as a discipline. For more than six decades, ASH has sponsored its annual meeting. Today, ASH has more than 17,000 members, many of whom have made major advancements in understanding and treating blood diseases. Annual meeting Held each year in December, the annual meeting brings together ...
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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 affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID. In clinical settings, immunosuppression by some drugs, such as steroids, can either be an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti- rejection measure and in patients with an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised individual may particular ...
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Wiskott–Aldrich Syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene. Signs and symptoms WAS occurs most often in males due to its X-linked recessive pattern of inheritance, affecting between 1 and 10 males per million. The first signs are usually petechiae and bruising, resulting from a low platelet count (i.e. thrombocytopenia). Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life. Recurrent bacterial infections typically develop by three month ...
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Thalassemia Major
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the nature of the mutation. HBB blockage over time leads to decreased beta-chain synthesis. The body's inability to construct new beta-chains leads to the underproduction of HbA (adult hemoglobin). Reductions in HbA available overall to fill the red blood cells in turn leads to microcytic anemia. Microcytic anemia ultimately develops in respect to inadequate HBB protein for sufficient red blood cell functioning. Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. Repeated ...
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Beta Thalassemia
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the nature of the mutation. HBB blockage over time leads to decreased beta-chain synthesis. The body's inability to construct new beta-chains leads to the underproduction of HbA (adult hemoglobin). Reductions in HbA available overall to fill the red blood cells in turn leads to microcytic anemia. Microcytic anemia ultimately develops in respect to inadequate HBB protein for sufficient red blood cell functioning. Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. Repeated ...
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Bluebird Bio
bluebird bio, Inc., based in Somerville, Massachusetts, is a biotechnology company that develops gene therapies for severe genetic disorders. The company's only - in the European Union (EU) - approved drug is betibeglogene autotemcel (Zynteglo), which treats transfusion-dependent beta thalassemia (TDT), a rare genetic blood disorder, and has been approved for use by the European Medicines Agency. The company has been criticized for the $1.8 million cost of the drug, which is the second most expensive drug in the world. The company is developing LentiGlobin gene therapy for the treatment of sickle cell disease and cerebral adrenoleukodystrophy. It is also developing T cell product candidates to treat acute myeloid leukemia, Merkel-cell carcinoma, diffuse large B-cell lymphoma, and MAGEA4 solid tumors. History The company was founded as Genetix Pharmaceuticals in April 1992 by MIT faculty members Philippe Leboulch and Irving London. In 2001, Walter Ogier was appointed chief ...
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