Scientists identified a rare form of diabetes that had not been diagnosed or recognized before which develops in babies just weeks after birth. The condition is caused by a single faulty gene that interferes with insulin production and affects brain development.

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The discovery, led by researchers at the University of Exeter Medical School working with Université Libre de Bruxelles (ULB) in Belgium and other international partners, identified changes in a gene known as "TMEM167A” as the cause of this newly recognised form of neonatal diabetes. The findings were published in "The Journal of Clinical Investigation” on September 9, 2025.

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Doctors have long known that diabetes appearing within the first six months of life is different from the more common childhood and adult forms of the disease. In most cases, experts say it is caused by inherited genetic changes. However, some infants diagnosed early also develop severe neurological problems.

In the new study, researchers examined six children from unrelated families who developed diabetes in infancy and later showed signs of epilepsy and microcephaly, a condition characterised by poor brain growth.

Genetic tests showed all six children had the same damaging changes in the gene, linking the gene to both their diabetes and neurological problems.

To understand how the gene causes disease, researchers turned to stem cell technology. They transformed human stem cells into pancreatic beta cells (the cells that produce insulin), and then disrupted the gene using CRISPR, a gene-editing tool that allows scientists to make precise changes to DNA. This approach let them see how the gene affects insulin-producing cells.

The experiments showed that without a working gene, insulin-producing cells could not cope. Stress inside the cells builds up, causing them to fail and preventing normal blood sugar control.

Dr Elisa de Franco, a clinical scientist at the University of Exeter, said studying rare childhood cases can teach researchers a lot about the body.

‘By identifying the DNA changes behind diabetes in babies, we can see which genes are essential for producing and releasing insulin. This study revealed the role of a gene we knew little about before,” she said.

Professor Miriam Cnop who led the laboratory work in Belgium said, "Stem cell models are changing how rare diseases are studied. They allow us to see what goes wrong inside the patient’s cells, and this approach is now being used to explore treatments for both rare and more common forms of diabetes.”

How common is diabetes in newborns in Rwanda?

Private Kamanzi, the chairperson of Rwanda Nutritionists Society (RNS), said that cases of diabetes in newborns are rare in Rwanda, but do occur. He noted that the condition, known as type 1 diabetes, occurs when insulin-producing cells fail to work properly, causing blood sugar to rise.

"Some babies are born with diabetes, even when the mother does not have the condition,” Kamanzi said.

He said the exact causes are still being studied, but some risk factors are known. For example, obese babies are more likely to be born with diabetes.

‘Prevention is possible’

Kamanzi added that diabetes can be hereditary, as children sometimes inherit it from their mother or father, though most children of diabetic parents do not develop the condition.

"Prevention is possible by focusing on the mother’s health during pregnancy. Reducing sugar intake, eating healthy foods, and engaging in moderate physical activity can help prevent obesity in children, which in turn may reduce the risk of diabetes,” Kamanzi said.

He noted that diabetes cannot be cured, but it can be managed, explaining that exclusive breastfeeding for the first six months is important.

Mothers are advised to avoid sugary foods to ensure healthy breast milk.

"Some children may also need insulin injections, given under a doctor’s guidance. Diagnosing diabetes in infants can be tricky because the cases are rare. Health workers may first look for other illnesses, and a child may show symptoms for some time before the correct diagnosis is made,” Kamanzi said.

He explained that symptoms of diabetes in infants are hard to notice, as signs common in older children and adults, like frequent urination and increased thirst, may not be obvious. Instead, infants may cry more than usual or seem unwell.