During February I attended a talk by Professor Chris van der Gast from Manchester Metropolitan University in which he looked at what cystic fibrosis is and methods of diagnosis.
Cystic Fibrosis
Cystic Fibrosis is a ‘common autosomal chronic genetic recessive disorder’. This means that the only way to inherit this disorder is if both parents have the gene that encodes for it.
If two recessive genes are present then this causes a CFTR (Cystic fibrosis transmembrane conductance regulator) mutation that in turn thickens the mucus on the outer layer of epithelial cells, preventing chlorine from leaving the cells. Due to the large number of mutations that can occur at the CFTR gene position cystic fibrosis can range from mild to severe.
Methods of diagnosis
During the diagnosis process in hospitals doctors look for one bacteria that is normally present in patients that have cystic fibrosis via a culture-based technique. This method is limited in hospitals as you can only grow the bacteria in specific conditions, this means that you do not get a full indication of all the bacteria present.
In this talk Professor Chris van der Gast introduces the idea of using PCR in order to improve cystic fibrosis treatment. This suggestion is based on a study he has conducted into the decrease in lung microbiota diversity when lung function is reduced. He conducted this study by examining the sputum samples of patients from both Europe and the USA via amplicon sequencing, this was then compared to the US cystic fibrosis Foundation Patient Registry.
My Thoughts and My Career
This area of study is of interest to me and this talk increased my enthusiasm. I found the talk itself highly informative with lots of data shown as well as methods as to how the research was carried out. I thought the addition of speculation as to how the findings presented in the talk may affect patients in the future was compelling as it gave an insight into how research that is done in the lab can affect peoples lives.
I found this talk has further increased my interest in working with microorganisms and has opened my eyes to the possibility of working in research in the future. Listening to a researcher talk about his work and relay how passionate he was about his findings has made me interested in pursuing a career path in research and working on an area that I also am passionate about.
For more information on cystic fibrosis click here.
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