A new study, published in the American Journal of Human Genetics, discovered 9 core genes that play an important role in a person’s risk for developing Type 1 Diabetes (T1D).
For those less interested in science, and more interested in the highlights, the exciting findings in this study include:
- This new discovery narrows down the target genes to a small number for potential immunotherapies, (treatments focused on reprogramming the immune system) to change the story of T1D.
- With this new information, researchers can focus on developing genetic therapies that could potentially prevent, delay, or treat T1D.
Think this is too far-fetched and way out in Science-Fiction Land? Read about Teplizumab (Tzield), the first FDA-approved immunotherapy for delaying the onset of T1D.
For you Science-y-Types, read on! In case you haven’t taken a genetics class lately, here are some definitions for you:
- Single Nucleotide Polymorphism (SNPs): when 1 of the 4 parts that make up DNA in a gene has a change in it
- Expression quantitative trait loci (eQTL): a larger area in a genetic sequence that is different than the ‘norm’
- Human Leukocyte Antigen (HLA): a group of genes located in chromosome 6 that play a role in regulating the immune system
- Core genes: genes found in nearly all people. In this discussion, the core genes are the changed genes responsible for allowing T1D to occur
- Trans-effects: cause changes to the core genes, sometimes called “peripheral master regulators.”
Now that you have a bit of vocabulary under your belt, check out the Graphical Abstract to see the breakdown of the study in simplified terms.
There were several missing pieces to the genetic storyline for those of us with T1D. The scientists from this study sorted and grouped 9 core genes that explain the different genetic makeups of T1D.
These genetic variances help explain why some immunotherapy options work well in some people and not at all in other people with T1D.
Current immunotherapy studies can further develop this study’s findings. They can link together which therapies are likely to work based on a person’s diabetes-specific genetic makeup. This can make research more targeted and increase the likelihood of functional treatment options.
Now, go spread the word to family and friends!
Get screened for T1D antibodies by visiting:
If your friend or family member is making antibodies, there is 1 option available in the US to delay the onset of T1D (Tzield, see info and link, above). Anyone who is antibody positive can learn more about studies for medicines that may prevent, delay, or potentially cure/stop the immune system from attacking and causing T1D!