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Full-Text Articles in Medicine and Health Sciences
An Investigation On The Irish Population’S Attitudes And Knowledge Towards Genetic Screening For Cancer, Emer Mccarthy, Ada Fleming, Dawn Hannah Cronin
An Investigation On The Irish Population’S Attitudes And Knowledge Towards Genetic Screening For Cancer, Emer Mccarthy, Ada Fleming, Dawn Hannah Cronin
International Undergraduate Journal of Health Sciences
Genetic mutations are alterations in DNA that may result in the development of a disease later in life. A BRCA gene is a tumour suppressor gene that helps to prevent the development of some cancers, particularly breast cancer. If a mutation occurs, this gene no longer functions at preventing these cancers. Genetic screening is when a population is tested for a mutation in an attempt to identify a group of people that are positive for the mutation. This can help identify cancer in different populations as well as track their inheritance. This study was conducted online, questioning the Irish populations …
Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021
Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021
International Undergraduate Journal of Health Sciences
The full June 2021 issue (Volume 1, Issue 1) of the International Undergraduate Journal of Health Sciences
Living With Pku: The Lived Experience Of Irish Adults With Early Diagnosed Phenylketonuria On Long Term Dietary Therapy, Mary-Ellen O'Shea
Living With Pku: The Lived Experience Of Irish Adults With Early Diagnosed Phenylketonuria On Long Term Dietary Therapy, Mary-Ellen O'Shea
Theses
Phenylketonuria (PKU) is a rare genetic condition affecting the body’s ability to metabolise the amino acid phenylalanine (PHE). A build-up of PHE in the blood and brain can result in irreversible intellectual disability and developmental delays. Ireland has one of the highest prevalence rates of PKU in Europe and some of the earliest treated patients with PKU in the world. However, little is known about their lived experience with PKU. Furthermore, cost-benefit analysis of treatments for rare diseases in Ireland is principally based on quantitative data. More qualitative data is needed to highlight the quality of life experienced by people …