UK-based non-profit organization, Cystic Fibrosis Trust, recently launched a new awareness campaign that seeks to empower individuals living with cystic fibrosis (CF) to find out which specific CFTR gene mutation they are carrying. When patients know their specific mutation, physicians can prescribe more targeted, effective treatments, and even help patients participate in appropriate clinical trials.
Research has identified more than 1,400 CFTR gene mutations that cause CF; however, it is important to note that for a baby to be born with CF, he or she must have inherited two copies of a particular mutation, one from each parent, and not necessarily the same one.
The Trust hopes that through their Genotype Matters campaign, more people will want to learn more about their specific mutation during their next visit with their doctor. Upon finding out, everyone is encouraged to log on to the campaign’s website, enter their information, receive tailored information about their specific genotype, and help spread the word by using the official campaign hashtag: #genotypematters on social media.
The Trust’s commitment to increased awareness does not stop there. In the event that a patient’s health center does not have a record of his/her genotype, the Trust will pay for the necessary test to identify it.
CF Trust believes that now is the right time to begin empowering patients and their healthcare providers knowledge of specific genotypes, as personalized medicine is steadily gaining momentum in the field of research and development. This is especially seen in newer drugs, such as Kalydeco (ivacaftor), which was launched by Vertex only 2 years ago for people with at least one copy of the G551D mutation.
To learn more about how the Trust and your CF center can help you, visit http://www.genotypematters.org.
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