What is Neonatal diabetes and who does it affect?
On 23rd of May Dr Elisa De Franco, scientific lead for Exeter’s world-wide neonatal diabetes genetic testing service, spoke to members of Exeter Branch about her work. Elisa gained her PhD at the University of Exeter and is now based in the Medical School within the College of Medicine and Health.
Neonatal diabetes is a very rare condition affecting only about one in every 100,000 live births and is diagnosed in babies under the age of six months. It is known to be caused by a change in a gene that affects insulin production. This means that blood glucose levels rise and typically a baby will not thrive, displaying symptoms of thirst and often other conditions including urinary tract infections, epilepsy and, in some babies, developmental delay. The big challenge is to identify the genes that bring about the disease and this lies at the heart of Elisa’s research work in molecular genetics.
When symptoms of neonatal diabetes were first noted in the mid-1850s the babies affected did not usually survive beyond one or two years of age. However, by the 1920s the use of insulin was found to make a massive difference to babies’ health and hospital staff were able to care for them and monitor their blood sugar levels in the first few months of their lives, leading to better outcomes.
Today Elisa’s research focuses on exploring and understanding the genetic basis of neonatal diabetes which is still a potentially life-threatening disease. So far research has revealed that around half of these babies who have early treatment in the first few months of their lives will go on to live normal lives and require no additional treatment (transient), while almost half are likely to require treatment throughout their lives (permanent). Many are able to take tablets to control insulin levels which can prove much easier to manage than having injections, and thus transform their lives. The research also shows that some ten per cent of these babies are found to have complex needs in addition to neonatal diabetes, requiring sustained individualised treatment (syndromic).
Elisa explained how new technology had revolutionised this research since 2010 when the next generation of gene sequencing became available. This enabled far more data to be analysed with greater speed in the search for genes associated with the incidence of neonatal diabetes. To date there are 28 genes known to cause diabetes. Free genetic testing is available world-wide and currently data from 111 countries contributes to this vital research work.
The search for genetic causes of neonatal and early onset diabetes goes on, and in thanking Elisa for her talk we said that our donation would be used to support this important world-leading research.