Cystic fibrosis (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.
The Cystic Fibrosis Trust is a UK-based national charity founded in 1964, dealing with all aspects of cystic fibrosis (CF). It funds research to treat and cure CF and aims to ensure appropriate clinical care and support for people with cystic fibrosis.
Vertex Pharmaceuticals 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.
Delta Phi Epsilon is an international sorority founded on March 17, 1917 at New York University Law School in Manhattan. It is one of 26 social sororities that form the National Panhellenic Conference (NPC). It has 110 active chapters, three of which are located in Canada, making the sorority an international organization.
Venture philanthropy is a type of impact investment that takes concepts and techniques from venture capital finance and business management and applies them to achieving philanthropic goals. The term was first used in 1969 by John D. Rockefeller III to describe an imaginative and risk-taking approach to philanthropy that may be undertaken by charitable organizations.
Cystic Fibrosis Canada is a national charitable not-for-profit corporation established in 1960.
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.
Emily's Entourage is a nonprofit organization that raises money and awareness to help find a cure for rare ("nonsense") mutations of cystic fibrosis (CF), a genetic disorder that generally affects a person's lungs and digestive system. The foundation has raised over $1 million, largely from viral fundraising through universities and video campaigns. The organization also participates in exploratory research initiatives aimed at understanding and advancing towards a cure.
Lumacaftor/ivacaftor, sold under the brand name Orkambi among others, is a combination of lumacaftor and ivacaftor used to treat people with cystic fibrosis who have two copies of the F508del mutation. It is unclear if it is useful in cystic fibrosis due to other causes. It is taken by mouth.
Tezacaftor is a drug used for the treatment of cystic fibrosis (CF) in people six years and older, who have a F508del mutation, the most common type of mutation in the CFTR gene. It is sold as a fixed-dose combination with ivacaftor under the brand name Symdeko. It was approved by the U.S. FDA in 2018. The combination of elexacaftor, tezacaftor, and ivacaftor is being sold as Trikafta.
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 (US) and Kaftrio (EU), 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.
Elexacaftor is a medication that acts as cystic fibrosis transmembrane conductance regulator (CFTR) corrector.
Peter Grootenhuis was a Dutch-American Medicinal Chemist. Grootenhuis was the Project Leader and Co-Inventor of Ivacaftor (VX-770), the first CFTR potentiator FDA approved drug to treat the underlying cause of Cystic Fibrosis (CF) in patients with certain mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, who account for 4-5% of CF cases. Grootenhuis also led the Vertex team to subsequent discovery of Orkambi, the combination of Ivacaftor and Lumacaftor(VX-809), approved to treat CF in people with two copies of the F508del mutation. Most recently, Grootenhuis's team discovered Tezacaftor (VX-661) and Elexacaftor (VX-445), which in combination with Ivacaftor are the components of Trikafta, a drug approved by the FDA in 2019 to treat CF in more than 90% of CF patients. For Grootenhuis’ contributions to the discovery of these compounds, he was awarded the 2018 IUPAC Richter Prize, the American Chemical Society’s 2013 Heroes of Chemistry Award, and inducted into the American Chemical Society Division of Medicinal Chemistry Hall of Fame. Grootenhuis has contributed to the discovery of over 11 clinical candidates, co-authored more than 100 peer reviewed papers and is inventor of 65 + U.S Patents, and more than 50 EU Patents.
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.
