New research is turning a spotlight on hereditary pancreatitis, a life-changing condition leaving sufferers in chronic and debilitating pain.
Honours student Denghao Wu is hoping to better understand the genetic profile of hereditary pancreatitis, which is caused by a gene mutation resulting in inflammation of the pancreas and poor quality of life from a young age.
With the guidance of Professor Toby Coates, Denghao will identify and collect data from South Australian patients diagnosed with this condition and their families.
“With this data we aim to investigate the link between the presentation of hereditary pancreatitis in patients and their genetics to better understand the condition with the aim to improve the management for patients,” Denghao said.
“The overall goal of this study is to understand hereditary pancreatitis in a South Australian cohort to improve clinical care of this condition, ensuring the appropriate information is given to patients for this type of hereditary disease in the future.”
Denghao will conduct the research by recording information about patients’ medical history and their families, as well as collecting a once-off saliva sample from patients.
“We intend to analyse the DNA from the saliva samples to discover new and unknown genes affecting disease outcomes such as age of onset and disease severity in hereditary pancreatitis patients and their family members,” Denghao said.
“In later stages of the study, we hope to investigate the association of any genetic markers we discover with any potential risk of pancreatic cancer.”
So far, the team has recruited over 50 participants in the study and are hoping to have 200 participants by the end of 2020.
“The team and I are very committed to seeing the fruition of this South Australian research study into hereditary pancreatitis and are hoping this project will expand into a national centre for pancreatitis research in the near future,” Denghao said.
“With funding support from institutions like KTDRA, the study will be able to continue producing potentially life-changing data and raising awareness for pancreatitis in future.”
If you suffer from hereditary pancreatitis and would like to participate in the study, email [email protected] or call (08) 7002 0840.