The genetic roots of thyroid disease

Just below the Adam’s Apple and measuring less than two inches, the thyroid gland releases a hormone that regulates some of the body’s most critical functions, including metabolism. Too much or too little of the hormone can cause a myriad of disorders. Dr. Theodora Pappa studies the genetic origins of thyroid disorders and, working with Dr. Samual Refetoff, identified a gene responsible for one type of deficiency. View Halo Profile >>

Tell us about your research…

In 2012, I came to the United States to pursue postdoctoral research and was privileged to work with Dr. Samuel Refetoff on the role of genetics in thyroid disease. We worked on characterizing the genetic defects in patients with rare thyroid disorders and dissecting the mechanism of action of novel mutations, and identified a novel mechanism of TBG deficiency caused by a mutation in a liver specific enhancer of the promoter of the TBG gene.

We worked on characterizing the genetic defects in patients with rare thyroid disorders and dissecting the mechanism of action of novel mutations.

Studying a cohort of pregnant women with resistance to thyroid hormone, we found that prenatal antithyroid therapy in women carrying fetuses without a TRbeta mutation improves outcome in these infants and results in normalized birth weight and TSH levels. 

Can you explain that to a non-scientist?

Our collaborative work has helped us understand more about how thyroid hormones act in our body and the impact of changes to our genetic fingerprint – our DNA – that can result in hereditary thyroid abnormalities. 

How could it someday impact patient lives?

Being able to test for these genetic changes early, even during the embryonic stage, can help us make recommendations for treatment of fetuses that can be beneficial for these children later in life.

Being able to test for these genetic changes early, even during the embryonic stage, can help us make recommendations for treatment of fetuses that can be beneficial for these children later in life.

Also, identifying the genetic cause of an inherited thyroid disease is very important for counseling, not only our patients, but family members that may be at risk for the same genetic defect.