Researchers discover method to better understand a rare genetic skin condition
| Oct 25, 2019, 13:25 IST
A team of scientists from Newcastle University in the UK have discovered a new method that has helped them gain a better understanding about a rare genetic skin disease that causes skin tumours on the scalp, face, and body to get bigger as it progresses.
The team has discovered changes in the DNA of the tumour cells in those with CYLD cutaneous syndrome (CCS) that could be the reason that helps them grow. The findings suggest when these changes occur the tumours get a 'survival advantage'.
CCS is a hereditary condition, which occurs in the areas of the body where there are hair follicles. This could lead to skin tumours that can keep growing. Researchers discovered the changes in two genes that are commonly found in skin tumours.
Dr Rajan further explained: "This is an exciting step forward for patients with the condition as, historically, like many rare diseases, these patients have been overlooked. Continued collaborative research between clinicians, scientists, and patients is central to improving the lives of people with this challenging rare disease."
Researchers say the breakthrough would not have been possible with the help of families with CCS in Newcastle. "This work is an important example of patient and clinician partnership. By working together, patients and doctors can help advance understanding of rare genetic conditions," Rajan told a news portal. Adding, "This work would not have been possible without the participation of the CCS families in Newcastle, and funding from the Wellcome Trust and the British Skin Foundation."
Living with the condition is not easy. "The condition is painful and can be distressing at times as when tumours are on the face it can make people look and recoil. For my mum and sister it ruined their lives as it was embarrassing for them," Occupational therapist Julie Robinson who suffers from CCS told a news portal.
However, the research offers hope for many. "This research is exciting as it means that the condition is being taken seriously and the impact it has on patients is being acknowledged," Julie told a news portal. Adding,"If one day a treatment can be developed for those with the condition, then that would be fantastic."
The findings were originally published in the journal Nature Communications.
Picture Courtesy: Google Images
The team has discovered changes in the DNA of the tumour cells in those with CYLD cutaneous syndrome (CCS) that could be the reason that helps them grow. The findings suggest when these changes occur the tumours get a 'survival advantage'.
CCS is a hereditary condition, which occurs in the areas of the body where there are hair follicles. This could lead to skin tumours that can keep growing. Researchers discovered the changes in two genes that are commonly found in skin tumours.
Dr Rajan further explained: "This is an exciting step forward for patients with the condition as, historically, like many rare diseases, these patients have been overlooked. Continued collaborative research between clinicians, scientists, and patients is central to improving the lives of people with this challenging rare disease."
Researchers say the breakthrough would not have been possible with the help of families with CCS in Newcastle. "This work is an important example of patient and clinician partnership. By working together, patients and doctors can help advance understanding of rare genetic conditions," Rajan told a news portal. Adding, "This work would not have been possible without the participation of the CCS families in Newcastle, and funding from the Wellcome Trust and the British Skin Foundation."
Living with the condition is not easy. "The condition is painful and can be distressing at times as when tumours are on the face it can make people look and recoil. For my mum and sister it ruined their lives as it was embarrassing for them," Occupational therapist Julie Robinson who suffers from CCS told a news portal.
However, the research offers hope for many. "This research is exciting as it means that the condition is being taken seriously and the impact it has on patients is being acknowledged," Julie told a news portal. Adding,"If one day a treatment can be developed for those with the condition, then that would be fantastic."
The findings were originally published in the journal Nature Communications.
Picture Courtesy: Google Images