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Emil Kakkis
Emil Kakkis (born 1960) is an American medical geneticist known for his work to develop treatments for ultra rare disorders. He is the Founder of the Everylife Foundation for Rare Disease and Founder, CEO and President of Ultragenyx Pharmaceutical Inc. Professional background Kakkis began his work at Harbor–UCLA Medical Center working with minimal funding and support to develop an enzyme replacement therapy (Aldurazyme) for the rare disorder Mucopolysaccharidosis (MPS I). The struggle to get the therapy translated from a successful canine model to patients succeeded due to the critical financial support of a patient organization formed by Mark and Jeanne Dant for their son Ryan, called the Ryan Foundation. Aldurazyme development was later supported by BioMarin and eventually, their partner Genzyme leading to U.S. Food and Drug Administration (FDA) approval in 2003. During his tenure at BioMarin, Kakkis guided the development and approval of two more treatments for rare di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Error 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 (substrate (biochemistry), substrates) into others (Product (chemistry), 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 Biochemical Processes, 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 (1857â ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genzyme
Genzyme was an American biotechnology company based in Cambridge, Massachusetts. Since its acquisition in 2011, Genzyme (also known as Genzyme Transgenics Corp or GTC Biotherapeutics) has been a fully owned subsidiary of Sanofi. In 2010, Genzyme was the world’s third-largest biotechnology company, employing more than 11,000 people around the world. As a subsidiary of Sanofi, Genzyme has a presence in approximately 65 countries, including 17 manufacturing facilities and 9 genetic-testing laboratories. Its products are also sold in 90 countries. In 2007, Genzyme generated $3.8 billion in revenue with more than 25 products on the market. In 2006 and 2007, Genzyme was named one of ''Fortune'' magazine’s “100 Best Companies to Work for”. The company donated $83 million worth of products worldwide; in 2006, it made $11 million in cash donations. In 2005, Genzyme was awarded the National Medal of Technology, the highest level of honor awarded by the president of the United States ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1960 Births
Year 196 ( CXCVI) was a leap year starting on Thursday (link will display the full calendar) of the Julian calendar. At the time, it was known as the Year of the Consulship of Dexter and Messalla (or, less frequently, year 949 ''Ab urbe condita''). The denomination 196 for this year has been used since the early medieval period, when the Anno Domini calendar era became the prevalent method in Europe for naming years. Events By place Roman Empire * Emperor Septimius Severus attempts to assassinate Clodius Albinus but fails, causing Albinus to retaliate militarily. * Emperor Septimius Severus captures and sacks Byzantium; the city is rebuilt and regains its previous prosperity. * In order to assure the support of the Roman legion in Germany on his march to Rome, Clodius Albinus is declared Augustus by his army while crossing Gaul. * Hadrian's wall in Britain is partially destroyed. China * First year of the '' Jian'an era of the Chinese Han Dynasty. * Emperor Xian o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Philanthropists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Geneticists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elizabeth F
The Fritzl case emerged in 2008, when a woman named Elisabeth Fritzl (born 6 April 1966) told police in the town of Amstetten, Lower Austria, Austria, that she had been held captive for 24 years by her father, Josef Fritzl (born 9 April 1935). J. Fritzl had assaulted, sexually abused, and raped his daughter repeatedly during her imprisonment inside a concealed area in the cellar of the family home. The abuse resulted in the birth of seven children: three of them remained in captivity with their mother; one had died just days after birth at the hands of J. Fritzl, who disposed of his body in an incinerator; and the other three were brought up by J. Fritzl and his wife, Rosemarie, having been reported as foundlings. J. Fritzl was arrested on suspicion of rape, false imprisonment, manslaughter by negligence, and incest. In March 2009, he pleaded guilty to all counts and was sentenced to life imprisonment. History Josef Fritzl was born on 9 April 1935, in Amstetten, Lower Austri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pediatrics
Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children," derived from the two Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires resources available in a NICU). History The ear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is due to mutations in the '' PAH'' gene, which results in low levels of the enzyme phenylalanine hydroxylase. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the disease. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Food And Drug Administration
The United States Food and Drug Administration (FDA or US FDA) is a List of United States federal agencies, federal agency of the United States Department of Health and Human Services, Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, caffeine products, dietary supplements, Prescription drug, prescription and Over-the-counter drug, over-the-counter pharmaceutical drugs (medications), vaccines, biopharmaceuticals, blood transfusions, medical devices, electromagnetic radiation emitting devices (ERED), cosmetics, Animal feed, animal foods & feed and Veterinary medicine, veterinary products. The FDA's primary focus is enforcement of the Federal Food, Drug, and Cosmetic Act (FD&C), but the agency also enforces other laws, notably Section 361 of the Public Health Service Act, as well as associated regulations. Much of this regulatory-enforcement work is not d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the Cell (biology), cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in Synovial fluid, the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pomona College
Pomona College ( ) is a private liberal arts college in Claremont, California. It was established in 1887 by a group of Congregationalists who wanted to recreate a "college of the New England type" in Southern California. In 1925, it became the founding member of the Claremont Colleges consortium of adjacent, affiliated institutions. Pomona is a four-year undergraduate institution that approximately students. It offers 48 majors in liberal arts disciplines and roughly 650 courses, as well as access to more than 2,000 additional courses at the other Claremont Colleges. Its campus is in a residential community east of downtown Los Angeles, near the foothills of the San Gabriel Mountains. Pomona has the lowest acceptance rate of any U.S. liberal arts college and is considered the most prestigious liberal arts college in the American West and one of the most prestigious in the country. It has a $ endowment , making it the seventh-wealthiest college or university in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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