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Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably Staphylococcus aureus. CF is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms.
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.
Vertex Pharmaceuticals Incorporated is an American biopharmaceutical company based in Boston, Massachusetts. It was one of the first biotech firms to use an explicit strategy of rational drug design rather than combinatorial chemistry. It maintains headquarters in South Boston, Massachusetts, and three research facilities, in San Diego, California, and Milton Park, Oxfordshire, England.
The sweat test measures the concentration of chloride that is excreted in sweat. It is used to screen for cystic fibrosis (CF). Due to defective chloride channels (CFTR), the concentration of chloride in sweat is elevated in individuals with CF.
Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive organs fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD).
The Cystic Fibrosis Foundation (CFF) is a 501(c)(3) non-profit organization in the United States established to provide the means to cure cystic fibrosis (CF) and ensure that those living with CF live long and productive lives. The Foundation provides information about cystic fibrosis and finances CF research that aims to improve the quality of life for people with the disease. The Foundation also engages in legislative lobbying for cystic fibrosis.
John R. Yates III is an American chemist and Ernest W. Hahn Professor in the Departments of Molecular Medicine and Neurobiology at The Scripps Research Institute in La Jolla, California.
Ivacaftor is a medication used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, who account for 4–5% cases of cystic fibrosis. It is also included in combination medications, lumacaftor/ivacaftor, tezacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor which are used to treat people with cystic fibrosis.
Lumacaftor (VX-809) is a pharmaceutical drug that acts as a chaperone during protein folding and increases the number of CFTR proteins that are trafficked to the cell surface. It is available in a single pill with ivacaftor; the combination, lumacaftor/ivacaftor, is used to treat people with cystic fibrosis who are homozygous for the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the defective protein that causes the disease. It was developed by Vertex Pharmaceuticals and the combination was approved by the FDA in 2015. As of 2015, lumacaftor had no medical use on its own.
Claire E. Wainwright is a paediatric respiratory physician and professor of pediatrics, residing and working in Queensland. She commenced her medical training in London and completed her specialist training at the Royal Children's Hospital, Brisbane. She is now head of the Cystic Fibrosis Service at the Queensland Children's Hospital and a professor of pediatric medicine at the University of Queensland, Australia. Wainwright has published numerous academic papers focusing upon her main area of interest; the impacts of fungal infections upon children with cystic fibrosis. However, her interests also expand to include other airway complications within children.
Walter "Wally" J. Curran, Jr. is an American radiation oncologist specializing in the treatment of malignant brain tumors and locally advanced lung cancer.
Larry J. Anderson is an American virologist who served in leadership positions at the Centers for Disease Control and Prevention (CDC) for more than three decades. He was director of the Division of Viral Diseases in the National Center for Immunization and Respiratory Diseases at the CDC (2006–2010), and chief of the Respiratory and Enteric Viruses Branch of the CDC Division of Viral and Rickettsial Diseases (1982–2006). From 2003 to 2006, Anderson led the CDC’s Post-Outbreak SARS Program, and he served as a special advisor on smallpox in the Office of the Associate Director for Terrorism, Preparedness, and Response.
Jane C. Davies is a British physician who is Professor of Paediatric Respirology at Imperial College School of Medicine. She is an Honorary Consultant at the Royal Brompton and Harefield NHS Foundation Trust.
Elexacaftor/tezacaftor/ivacaftor, sold under the brand names Trikafta and Kaftrio, is a fixed-dose combination medication used to treat cystic fibrosis. Elexacaftor/tezacaftor/ivacaftor is composed of a combination of ivacaftor, a chloride channel opener, and elexacaftor and tezacaftor, CFTR modulators.
Bonnie W. Ramsey is the Endowed Chair in Cystic Fibrosis at the University of Washington School of Medicine and the director of the Center for Clinical and Translational Research at Seattle Children's Research Institute. Her research focuses on treatments for cystic fibrosis.
Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems. She is a Senior Scientist Emeritus at SickKids Research Institute and a professor in the Department of Molecular Genetics at the University of Toronto.
Batsheva Kerem is an Israeli geneticist who was on the research team that identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later established the Israel National Center for CF Genetic Research. She discovered the most prevalent cystic fibrosis-causing mutations among the Israeli population, allowing for the establishment of nationwide genetic screening programs to identify carriers of these mutations and enabling prenatal diagnoses. She researches how some CF mutations prevent CFTR protein production by causing nonsense-mediated decay and abnormal mRNA splicing, and how therapies might be able to counteract those problems. She also studies the role of genetic instability in cancer. She is currently a professor at the Hebrew University.
Underrepresented populations, especially black and hispanic populations with cystic fibrosis are often not successfully diagnosed. This is in part due to the minimal dissemination of existing data on patients from these underrepresented groups. While white populations do appear to experience a higher frequency of cystic fibrosis, other ethnicities are also affected and not always by the same biological mechanisms. Thus, many healthcare and treatment options are less reliable or unavailable to underrepresented populations. This issue affects the level at which public health needs are being met across the world.
Paul Adrian Negulescu is an American–Romanian cell biologist. He is the Senior Vice President and Site Head of the San Diego Research Center of American pharmaceutical company Vertex Pharmaceuticals. He received the 2022 Shaw Prize in Life science and medicine, together with Michael J. Welsh, for their work that uncovered the etiology of cystic fibrosis and developed effective medications.
Michael James Welsh is an American pulmonologist. He is the current Roy J. Carver Chair in Biomedical Research, the Professor of Internal Medicine in Pulmonary, Critical Care and Occupational Medicine at the Department of Internal Medicine, and the Director of Pappajohn Biomedical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa. He is also a professor at the Department of Neurosurgery, Department of Neurology, and Department of Molecular Physiology and Biophysics. He received the 2022 Shaw Prize in Life science and Medicine, together with Paul A. Negulescu, for their work that uncovered the etiology of cystic fibrosis and developed effective medications.
References
- 1 2 "Eric Sorscher, M.D." Georgia Research Alliance. Retrieved 2018-11-02.
- ↑ Pittman, James (2013-03-01). Tinsley Harrison, M.D.: Teacher of Medicine. NewSouth Books. ISBN 9781603062510.
- ↑ "Atlanta Pediatric Research | Eric J. Sorscher, MD | Faculty | People | Emory + Children's + GT | Atlanta Pediatric Research Alliance". www.pedsresearch.org. Retrieved 2018-11-02.
- ↑ https://med.emory.edu/directory/profile/?u=ESORSC2
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