Ask the Investigators – Dr. Siri Greeley

Dr. Greeley is our expert on neonatal diabetes. Today he answers some of the most common questions we receive about INS-related neonatal diabetes.

What is the best type of medication for people with INS-related neonatal diabetes?

The best type of medication for these patients is insulin replacement therapy. Mutations in the INS gene cause the insulin that a person makes to be misfolded and ‘gunky’. These insulin molecules don’t get released into the body well, and so these patients need to take insulin injections to stay healthy. Many of our patients choose to use insulin pumps because they can be more convenient (less pokes per day!) and can deliver very accurate, very small amounts of insulin. This tends to work especially well for our youngest patients. We do have some patients who choose to use multiple daily injections and do well on that.

How might stem cell transplantation be helpful for patients with INS mutations? 

Stem cells are special cells that can be morphed into other cells in the body. Many scientists are working on transforming stem cells into insulin-producing beta cells. In the future, we hope that we could take a blood sample from a person with an INS mutation, create stem cells from their blood, use a technique called CRISPR to fix their mutation, morph the cells into insulin-producing cells, and then transplant them back into the patient. This might fix the misfolded and ‘gunky’ insulin molecules they normally produce, decreasing their need for insulin, or maybe allowing them to come off of insulin all together!

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