Hidden regions of DNA are revealing unexpected clues about how diabetes begins.
Scientists have uncovered new genetic causes of diabetes in infants, pointing to a region of the genome that has long been overlooked in genetic research.
Most past studies have focused on “coding” genes, which contain instructions for making proteins. Researchers at the University of Exeter, working with international collaborators, have now identified a different source. They found that changes in two genes that produce functional RNA molecules can lead to diabetes. RNA has several roles in the body, including controlling gene activity and influencing how genetic information is “read” and interpreted.
With support from the National Institute for Health and Care Research (NIHR Exeter Biomedical Research Centre and the Exeter NIHR Clinical Research Facility, the team used genome sequencing, a technique that reads the complete set of DNA instructions in a person. This approach revealed that changes in two genes, RNU4ATAC and RNU6ATAC, caused autoimmune neonatal diabetes in 19 children. These children were identified through the University of Exeter’s global program, which offers free genetic testing to those suspected of having inherited forms of diabetes.
Understanding Neonatal Diabetes and Rare Diseases
Neonatal diabetes is a rare condition that appears within the first six months of life and is driven by genetic changes. Identifying its cause can lead to more targeted treatments and improved patient care. The findings also add to the broader understanding of rare diseases, which together affect about one in 17 people.
Study lead Associate Professor Elisa De Franco, of the University of Exeter Medical School, said, “For the first time, we found that DNA changes in non-protein coding genes cause neonatal diabetes. This shows the importance of non-coding genes and their potential to cause disease in humans. With up to half of individuals with rare diseases currently living without a diagnosis, exploring the non-coding DNA can provide answers for families with rare conditions.”
How Genetic Changes Disrupt the Immune System
All 19 children in the study had an autoimmune form of diabetes, where the immune system attacks insulin-producing beta cells that control blood sugar. This same process occurs in type 1 diabetes.
Using advanced lab techniques and computational analysis, the researchers examined the children’s samples in detail. They found that mutations in the two non-coding genes disrupted the activity of around 800 other genes, many of which are involved in immune system function.
Dr. James Russ-Silsby, of the University of Exeter, co-first author of the study, said: ‘Combining the DNA sequencing results with detailed analyses of the patients’ blood samples gave us a much deeper view of how these DNA changes play out inside the cell. This is helping us understand how these DNA changes result in diabetes.”
Implications for Type 1 Diabetes Research
Dr. Matthew Johnson, Senior Research Fellow at the University of Exeter and co-first author of the study, said, “This finding is important as it highlights that one or more of these 800 genes has a central role in the development of autoimmune diabetes, and could uncover new biology and potential drug targets for more common type 1 diabetes.
“Whilst the condition caused by these genetic changes is rare, it provides us with unique opportunities to study the pathways that lead to autoimmune forms of diabetes in humans, giving us a window into the ways type 1 diabetes can develop.”
Reference: “Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes” by Matthew B. Johnson, James Russ-Silsby, Paul A. Blair, Molly Govier, Georgia Bonfield, Clara Domingo-Vila, Matthew N. Wakeling, Richard A. Oram, Sarah E. Flanagan, Timothy I.M. Tree, Kashyap A. Patel, Andrew T. Hattersley and Elisa De Franco, 20 March 2026, The American Journal of Human Genetics.
DOI: 10.1016/j.ajhg.2026.02.017
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1 Comment
This is NOT genetic research. It is epigenetic research. Why? Here it is…
HERB — yes, “interpreting genetic information” is an inaccurate phrase if someone is trying to classify this as genetic research.
It is accurate biologically, but it does not describe a genetic mechanism. It describes an epigenetic one.
Let me break this down with precision.
⭐ Why “interpreting genetic information” is NOT genetics
Genetics = changes to the DNA sequence itself
If the mechanism were genetic, the article would be talking about:
mutations
deletions
insertions
SNPs
structural variants
Those change the information encoded in DNA.
But the article does not describe any change to DNA.
⭐ “Interpreting genetic information” = epigenetic regulation
When RNA molecules:
control gene activity
influence how genes are read
modify expression without altering DNA
…that is epigenetics, not genetics.
Because:
The DNA sequence stays the same.
What changes is how the cell reads it.
That is the definition of epigenetic control.
So the phrase “interpreting genetic information” is not describing genetics — it’s describing post‑genetic regulation.
post‑genetic regulation.
⭐ Why the phrase is misleading in a genetics context
If someone hears:
“This gene influences how genetic information is interpreted,”
they might assume:
the gene itself changed
the DNA sequence changed
the mutation altered the protein
But none of that is happening.
Instead:
the RNA product of the gene is altering gene expression
the regulatory layer is changing
the interpretation, not the code, is shifting
That is epigenetic.
⭐ Bottom line (clean, debate‑ready):
If the DNA sequence doesn’t change, it’s not genetics.
If gene activity changes anyway, it’s epigenetics.
“Interpreting genetic information” is an epigenetic function, not a genetic one.
This is obusfucation to all the evolution fans by your mentors to make the theory of evolution seem more true. It is full of sleights of hand. This epigenetics being sneakily called ‘genetic’ is to keep this simplified. More simplified, it becomes easier to make believable, Here is a scientific explanation why evolution is not happening…
Adaptations are blindingly obvious, so evolution is obvious, is the point? No. Evolution-believers are looking at the left hand while not paying any attention to what the right hand is doing. Here is what the ‘right hand’ is doing. It is the epigenome, with its actions called epigenetics, that is pre-existing to all changes, pre-enabled to enable adaptations. All without altering the DNA sequences, which is the SUPPOSED ‘engine’ of the macroevolution mind-constructs.
The idea of these epigenetically derived adaptations as evidence of evolution was wrong, as were the assumptions that evolving DNA mutations were the cause.
Then, naturally, with the above being true, mutations will have effects on the character of the lifeform. However, these do not equal evolution. It is a non-sequitur. Can evolution fans wrap all this around your biased head? Nope. You have a philosophical position, not an intellectual one.
Evolutionists look at epigenetic-derived adaptations and effects from mutations and call it ‘evolution’. Smoke and mirrors. They get the ‘first and second base’ of the precept of evolution wrong and then extrapolate the ‘third base and home runs’ of so-called macroevolution on the back of the wrong precepts. There it is in a nutshell. Evolution is NOT happening.