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Spark Therapeutics
Spark Therapeutics, Inc. is a developer of gene therapy treatments, which treat debilitating genetic diseases. It is a subsidiary of Hoffmann-La Roche. History The company was founded in 2013 by Katherine A. High, Jeffrey Marrazzo, and Steven Altschuler in an effort to commercially develop treatments against haemophilia that High was working on at Children's Hospital of Philadelphia. In January 2015, the company became a public company, trading under the ticker $ONCE via a $161 million initial public offering led by Chief Legal Officer Joseph La Barge. In December 2017, the U.S. Food and Drug Administration approved LUXTURNATM (voretigene neparvovec-rzyl) for the treatment of patients with viable retinal cells and confirmed biallelic RPE65 mutation-associated retinal dystrophy, a genetic blinding condition caused by mutations in the RPE65 gene. The company is currently developing several gene therapies to target a suite of diseases, including Haemophilia A and B, and several cen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subsidiary
A subsidiary, subsidiary company or daughter company is a company owned or controlled by another company, which is called the parent company or holding company. Two or more subsidiaries that either belong to the same parent company or having a same management being substantially controlled by same entity/group are called sister companies. The subsidiary can be a company (usually with limited liability) and may be a government- or state-owned enterprise. They are a common feature of modern business life, and most multinational corporations organize their operations in this way. Examples of holding companies are Berkshire Hathaway, Jefferies Financial Group, The Walt Disney Company, Warner Bros. Discovery, or Citigroup; as well as more focused companies such as IBM, Xerox, and Microsoft. These, and others, organize their businesses into national and functional subsidiaries, often with multiple levels of subsidiaries. Details Subsidiaries are separate, distinct legal entities f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Katherine High
Katherine, also spelled Catherine, and other variations are feminine names. They are popular in Christian countries because of their derivation from the name of one of the first Christian saints, Catherine of Alexandria. In the early Christian era it came to be associated with the Greek adjective (), meaning "pure", leading to the alternative spellings ''Katharine'' and ''Katherine''. The former spelling, with a middle ''a'', was more common in the past and is currently more popular in the United States than in Britain. ''Katherine'', with a middle ''e'', was first recorded in England in 1196 after being brought back from the Crusades. Popularity and variations English In Britain and the U.S., ''Catherine'' and its variants have been among the 100 most popular names since 1880. The most common variants are ''Katherine,'' ''Kathryn,'' and ''Katharine''. The spelling ''Catherine'' is common in both English and French. Less-common variants in English include ''Katheryn'', ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stat (website)
Stat (stylized STAT, sometimes also called Stat News) is an American health-oriented news website launched on November 4, 2015, by John W. Henry, the owner of ''The Boston Globe''. It is produced by Boston Globe Media and is headquartered in the ''Globe''s own building in Boston. Its executive editor is Rick Berke, who formerly worked at both ''The New York Times'' and ''Politico''. According to Kelsey Sutton of ''Politico'', the website is Henry's "biggest and most ambitious standalone site yet". The site's name comes from the term "stat", short for '' statim'', or "immediately"—a term that has long been used in medical contexts. As of February 2016, it had 45 staff members. Impact Notable stories Stat has broken include one about Robert Califf's research, published after then–President of the United States Barack Obama announced he would be his nominee to lead the Food and Drug Administration. The site also uncovered claims made by a vitamin company to which President Donal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Factor VIII
Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the ''F8'' gene. Defects in this gene result in hemophilia A, a recessive X-linked coagulation disorder. Factor VIII is produced in liver sinusoidal cells and endothelial cells outside the liver throughout the body. This protein circulates in the bloodstream in an inactive form, bound to another molecule called von Willebrand factor, until an injury that damages blood vessels occurs. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor. The active protein (sometimes written as coagulation factor VIIIa) interacts with another coagulation factor called factor IX. This interaction sets off a chain of additional chemical reactions that form a blood clot. Factor VIII participates in blood coagulation; it is a cofactor for factor IXa, which, in the presence of Ca2+ and phospholipids, forms a complex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phases Of Clinical Research
The phases of clinical research are the stages in which scientists conduct experiments with a health intervention to obtain sufficient evidence for a process considered effective as a medical treatment. For drug development, the clinical phases start with testing for safety in a few human subjects, then expand to many study participants (potentially tens of thousands) to determine if the treatment is effective. Clinical research is conducted on drug candidates, vaccine candidates, new medical devices, and new diagnostic assays. Summary Clinical trials testing potential medical products are commonly classified into four phases. The drug development process will normally proceed through all four phases over many years. If the drug successfully passes through Phases I, II, and III, it will usually be approved by the national regulatory authority for use in the general population. Phase IV trials are 'post-marketing' or 'surveillance' studies conducted to monitor safety over sever ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemophilia A
Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males. In the majority of cases it is inherited as an X-linked recessive trait, though there are cases which arise from spontaneous mutations. Factor VIII medication may be used to treat and prevent bleeding in people with haemophilia A. Signs and symptoms In terms of the symptoms of haemophilia A, there are internal or external bleeding episodes. Individuals with more severe haemophilia have more severe and more frequent bleeding, while others with mild haemophilia typically have more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms. Prolonged bleeding from a venepuncture or heelprick is another common early sign of haemophilia, these signs may lead to blood tests which indicate haemophilia. In other people, especially those with modera ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood (journal)
''Blood'' is a peer-reviewed medical journal published by the American Society of Hematology. It was established by William Dameshek in 1946. The journal changed from semimonthly (24 times annually) to weekly publication at the start of 2009. It covers clinical and basic research in all areas of hematology, including disorders of leukocytes, both benign and malignant, erythrocytes, platelets, hemostatic mechanisms, vascular biology, immunology, and hematologic oncology. Abstracting and indexing ''Blood'' is indexed and abstracted by: According to the ''Journal Citation Reports'', the journal has a 2021 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 25.476, and has a Journal Impact Factor rank of 1/76 in the Hematology category. References External l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Factor IX
Factor IX (or Christmas factor) () is one of the serine proteases of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes haemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to haemophilia. Coagulation factor IX is on the World Health Organization's List of Essential Medicines. Physiology Factor IX is produced as a zymogen, an inactive precursor. It is processed to remove the signal peptide, glycosylated and then cleaved by factor XIa (of the contact pathway) or factor VIIa (of the tissue factor pathway) to produce a two-chain form, where the chains are linked by a disulfide bridge. When activated into factor IXa, in the presence of Ca2+, membrane phospholipids, and a Factor VIII cofactor, it hydrolyses one arginine-isoleucine bond in factor X to form factor Xa. Factor IX is inhibited by antithrombin. Factor IX expression increases with age in humans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adeno-associated Virus
Adeno-associated viruses (AAV) are small viruses that infect humans and some other primate species. They belong to the genus ''Dependoparvovirus'', which in turn belongs to the family ''Parvoviridae''. They are small (approximately 26 nm in diameter) replication-defective, nonenveloped viruses and have linear single-stranded DNA (ssDNA) genome of approximately 4.8 kilobases (kb). AAV are not currently known to cause disease. The viruses cause a very mild immune response. Several additional features make AAV an attractive candidate for creating viral vectors for gene therapy, and for the creation of isogenic human disease models. Gene therapy vectors using AAV can infect both dividing and quiescent cells and persist in an extrachromosomal state without integrating into the genome of the host cell. In the native virus, however, integration of virally carried genes into the host genome does occur. Integration can be important for certain applications, but can also have unwan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemophilia B
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). Haemophilia B was first recognized as a distinct disease entity in 1952. It is also known by the eponym ''Christmas disease'', named after Stephen Christmas, the first patient described with haemophilia B. In addition, the first report of its identification was published in the Christmas edition of the ''British Medical Journal''. Most individuals who have Hemophilia B and experience symptoms are men. The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia. Many women carriers of the disease have no symptoms. However, an estimated 10-25% of women carriers have mild symptoms; in rare cases, women may have moderate or severe symptoms. Si ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Experimental Drug
An experimental drug is a medicinal product (a drug or vaccine) that has not yet received approval from governmental regulatory authorities for routine use in human or veterinary medicine. A medicinal product may be approved for use in one disease or condition but still be considered experimental for other diseases or conditions. In 2018 the United States of America signed the legislation "Right to Try", this allows individuals who fit into the criteria to try experimental drugs that are not yet deemed safe. In the United States, the body responsible for approval is the U.S. Food and Drug Administration (FDA), which must grant the substance Investigational New Drug (IND) status before it can be tested in human clinical trials. IND status requires the drug's sponsor to submit an IND application that includes data from laboratory and animal testing for safety and efficacy. A drug that is made from a living organism or its products undergoes the same approval process but is called a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leber's Congenital Amaurosis
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008. Signs and symptoms The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes. LCA is typically characterized by nystagmus, sluggish or absent pupillary responses, and severe vision loss or blindness. Genetics It is usually autosomal recessive; however, importantly for family planning, it is sometimes autosomal dominant. It is a disorder thought to be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
