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The National Institutes of Health, commonly referred to as NIH, is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. Many NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program.
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.
Glycogen storage disease type II, also called Pompe disease, and formerly known as GSD-IIa. It is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.
Stanley Norman Cohen is an American geneticist and the Kwoh-Ting Li Professor in the Stanford University School of Medicine. Stanley Cohen and Herbert Boyer were the first scientists to transplant genes from one living organism to another, a fundamental discovery for genetical engineering. Thousands of products have been developed on the basis of their work, including human growth hormone and hepatitis B vaccine. According to immunologist Hugh McDevitt, "Cohen's DNA cloning technology has helped biologists in virtually every field". Without it, "the face of biomedicine and biotechnology would look totally different." Boyer cofounded Genentech in 1976 based on their work together, but Cohen was a consultant for Cetus Corporation and declined to join. In 2022, Cohen was found guilty of having committed fraud in misleading investors into a biotechnology company he founded in 2016, and paid $29 million in damages.
The Tufts University School of Medicine is the medical school of Tufts University, a private research university in Massachusetts. It was established in 1893 and is located on the university's health sciences campus in downtown Boston. It has clinical affiliations with numerous doctors and researchers in the United States and around the world, as well as with its affiliated hospitals in both Massachusetts, and Maine.
Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme.
β-Glucocerebrosidase is an enzyme with glucosylceramidase activity that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes. It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da.
α-Galactosidase is a glycoside hydrolase enzyme that catalyses the following reaction:
Imiglucerase is a medication used in the treatment of Gaucher's disease.
Genzyme was an American biotechnology company based in Cambridge, Massachusetts. Since its acquisition in 2011, Genzyme 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 to America's leading innovators. In February 2022, Sanofi's new corporate brand was unveiled and former entity "Sanofi Genzyme" got integrated into Sanofi.
Roscoe Owen Brady was an American biochemist.
Sheridan Gray Snyder OBE is an entrepreneur, venture capitalist, and philanthropist in the biotechnology industry. He is the founder and CEO of Biocatalyst, but also a "serial entrepreneur", a founder of Genzyme and many other companies. Snyder, who was the University of Virginia's best tennis player when he was studying for his BA in French and Romance Languages there in the 1960s, made "major contributions to the popularisation of tennis in the USA." He co-founded the National Junior Tennis League that reaches 250,000 inner-city young people and constructed a new tennis center at the University of Virginia.
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
William Canfield is a glycobiologist, chief scientific officer and founder of an Oklahoma City-based biotechnology company, Novazyme, which was acquired by Genzyme in August 2001 and developed, among other things, an enzyme that can stabilize Pompe disease, based on Canfield's ongoing research since 1998. Canfield subsequently left Genzyme and established, with his partner in the Novazyme operation, John Crowley, another research laboratory, which he still heads. He saved Cytovance from bankruptcy by forming an investor group and raising $9 million after Crowley suddenly left the lab in 2005 to become the chief executive officer at Amicus Therapeutics in New Jersey
Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development the enzyme replacement therapy (ERT) and the chaperone therapy for Fabry disease, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.
Protalix BioTherapeutics is an Israeli pharmaceutical company that manufactures a plant-based enzyme, taliglucerase alfa, which has received U.S. Food and Drug Administration approval for the treatment of Gaucher disease.
Stefan Karlsson is a Professor of Molecular Medicine and Gene Therapy at the Lund Stem Cell Center, in the Department of Laboratory Medicine, Lund University, Sweden. He is recognized for significant contributions to the fields of gene therapy and hematopoietic stem cell biology and in 2009 was awarded the Tobias Prize by The Royal Swedish Academy of Sciences.
Henri A. Termeer was a Dutch biotechnology executive and entrepreneur who is considered a pioneer in corporate strategy in the biotechnology industry for his tenure as CEO at Genzyme. Termeer created a business model adopted by many others in the biotech industry by garnering steep prices— mainly from insurers and government payers— for therapies for rare genetic disorders known as orphan diseases that mainly affect children. Genzyme uses biological processes to manufacture drugs that are not easily copied by generic-drug makers. The drugs are also protected by orphan drug acts in various countries which provides extensive protection from competition and ensures coverage by publicly funded insurers. As CEO of Genzyme from 1981 to 2011, he developed corporate strategies for growth including optimizing institutional embeddedness nurturing vast networks of influential groups and clusters: doctors, private equity, patient-groups, insurance, healthcare umbrella organizations, state and local government, and alumni. Termeer was "connected to 311 board members in 17 different organizations across 20 different industries" He has the legacy of being the "longest-serving CEO in the biotechnology industry.
William S. Sly is an internationally known physician and scientist who, except for sabbatical years at Oxford and Stanford, spent his entire academic career in St. Louis. Following M.D. training at Saint Louis University School of Medicine, he trained in internal medicine at Washington University in St. Louis and in research laboratories at the NIH, in Paris, and in Madison, Wisconsin. He then joined the faculty at Washington University, where he directed the division of medical genetics for 20 years. In 1984, he was recruited to St. Louis University School of Medicine and appointed Alice A. Doisy Professor and chairman of the Edward A. Doisy Department of Biochemistry and Molecular Biology. He chaired that department for 26 years. In February 2007, he was also named the inaugural holder of the James B. and Joan C. Peters Endowed Chair in Biochemistry and Molecular Biology. He became an emeritus professor in July 2014.
Gerald T. Keusch is an American physician-scientist and academic administrator. Keusch is the associate provost for global health at Boston University Medical Campus and a professor of international health and medicine at Boston University School of Public Health. He was the director of John E. Fogarty International Center and the associate director of international research at the National Institutes of Health from 1998 to 2003.
References
- 1 2 Doogab Yi (2009). "The scientific commons in the marketplace: the industrialization of biomedical materials at the New England Enzyme Center, 1963–1980". History and Technology. 25 (1): 69–87. doi:10.1080/07341510802618182. S2CID 144569826.
- 1 2 Merrill Goozne (October 2005), The $800 Million Pill: The Truth Behind the Cost of New Drugs , University of California Press, ISBN 9780520246706
- 1 2 Bruce Morgan (April 12, 2012), A Flair for the Business of Medicine: Genzyme founder Henry Blair started his career working as a technician at Tufts medical school, Tufts Now, retrieved July 17, 2015
- 1 2 Sara Calabro (1 March 2006), "Genzyme put patients first, and grew to become a multi-billion-dollar company. But empires don't survive on altruism", Pharmaceutical Executive
- ↑ Pentchev; Brady, RO; Blair, HE; Britton, DE; Sorrell, SH; et al. (August 1978). "Gaucher disease: Isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue". Proceedings of the National Academy of Sciences of the United States of America. 75 (8): 3970–3973. Bibcode:1978PNAS...75.3970P. doi: 10.1073/pnas.75.8.3970 . PMC 392911 . PMID 29293.
- ↑ Michael Rosenwald (August 2010). "Can Nanotechnology Save Lives?". Smithsonian Magazine. Retrieved August 16, 2012.