The DNA change responsible for a rare genetic condition that causes babies to be born without a pancreas can now be identified in almost all affected children through genetic testing.
That’s according to a new study from the University of Exeter, published in Lancet Diabetes and Endocrinologywhich found that genetic testing could identify the cause of pancreatic agenesis in 98 percent of cases.
The study, funded by Wellcome and supported by the National Institute for Health and Care Research Exeter Biomedical Research Centre, identified DNA changes responsible for pancreatic agenesis in all but four of the 129 study participants.
Pancreatic agenesis occurs when the pancreas fails to develop during pregnancy, leading to neonatal diabetes and the pancreas becomes unable to produce enough enzymes for digestion. Patients with pancreatic agenesis are usually diagnosed with diabetes in the first six months of life, with the condition later diagnosed through abdominal scans.
Sarah Flanagan, Professor in Genomic Medicine at the University of Exeter, said: “Pancreatic agenesis is an extremely rare condition, being able to recruit 129 participants with this disease was an outstanding achievement, demonstrating the work the University of Exeter team has done over the past 30 years in furthering the understanding of this rare disease.”
Dr Elisa De Franco, Associate Professor at the University of Exeter and study leader, said: “This study really shows how far the genetic understanding of this disease has come and highlights that DNA changes are responsible for pancreatic agenesis without any significant contribution from the environment. It also reinforces the importance of DNA testing in children with the disease, as for the majority of them a cause will be found. Knowing the cause will help health professionals cope with the disease to better understand its effects, “To give them a better understanding of the risks and help them find support.”
Due to improvements in genetic testing, parents whose children are born without a pancreas can now receive a genetic diagnosis a few weeks after sending a sample for DNA testing, rather than waiting years as before.
tania’s story
Tania was born in 2011 and was diagnosed with pancreatic agenesis shortly after. While her DNA was taken for testing, genetic understanding of the condition was limited at the time and Tania and her family had to wait ten years before finding out that a DNA change in the gene ZNF808 was the cause of her condition.
Tania’s father Imran said: ‘It is such a stressful time when parents first find out that something is wrong (with their child). So much time and energy is spent learning how to manage conditions like diabetes, let alone rare conditions like pancreas agenesis, that the ability to think about anything else becomes very limited. From personal experience, I know how much of a relief it was to understand why. This becomes an underlying source of stress that never really goes away due to uncertainty. When I finally got answers, it felt like a burden had been lifted and I could finally look forward and explore other treatment options. (…) It’s amazing to hear how much progress has been made and that families can now get answers so quickly.”
