1. Genetics of Type 1 Diabetes
Mairead Bermingham
Centre for Genomic and Experimental Medicine
Science Insights 24th July 2017

3. Monogenic Inheritance
Maturity onset diabetes of the young (MODY)
Mutations in glucokinase gene
Normal
Mutant
MODY MODY Normal Normal
If a parent has this gene mutation, any child they have, has a 50% chance of inheriting it from them.

4. Finding a gene challenge

5. Complex Inheritance

6. Incomplete Penetrance
Not all individuals that inherit a particular genotype at a locus will develop the associated phenotype, or the phenotype may depend on other factors such as age, gender, or environment
Example disease susceptibility genes
HLA & IL2RA genes for diabetes
BRCA1 and BRCA2 genes for breast cancer
Both examples actually have high penetrance relative to other disease susceptibility genes, BUT their penetrance is not 100%

7. Polygenic Traits
When a phenotype is caused by the contributions of two or more genes
2 types:
Discrete traits (e.g., eye color)
Continuous traits (e.g., height)
AA + CG  disease
AA only  no disease
CG only  no disease
AA + CG  metastatic cancer
AA only  pre-cancerous cells
CG only  localized tumor

8. Polygenic pedigree challenge

9. About the scientist What do I study ? Why do I love science ?
Questions ?
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10. Animal models

11. Mouse model in type 1 diabetes
Type 1 diabetes is generally regarded as genetic
New experiments on mice show that mouse mothers can protect their pups from developing type 1 diabetes by eating a gluten-free diet
Non-obese diabetic (NOD) mouse

12. Breed an animal model
GENIQUEST

13. About the scientist What do I study ? Why do I love science ?
Questions ?
Feedback please