Thyroid and genetics

It’s known that genetic factors play a role in some thyroid disorders, particularly in rarer thyroid conditions. For example, one form of congenital hypothyroidism (dyshormonogenesis) results from mutations in one of several genes involved in the production of thyroid hormones. 

To help the understanding of this we have funded several research studies looking at the genetics of thyroid disorders.

This is a selection of the ground-breaking research funded by our BTF Research Award to help improve diagnosis and treatment of thyroid disorders with genetic involvement.


2019 BTF Research Award Winner FNAseq: Nanopore sequencing of FNA samples in thyroid cancer

Dr Hannah Nieto

In 2019 we funded a study by Dr Hannah Nieto through our BTF Research Award. This looked at the genetic makeup of thyroid lesions in order to help predict the likely future behaviour of the tumour, how aggressively it should be treated, and possibly which additional therapies may be used in those tumours that do not respond to standard treatment.

Dr Nieto explains the difference our funding made and how this research may help diagnosis of thyroid cancer in the future:

The BTF Research Award allowed us to undertake this research, to investigate how we can use genetic sequencing in thyroid cancer in the UK and move towards efficient technology we can adapt for use in the NHS. This project also inspired a project in anaplastic thyroid cancer, looking at how we can sequence drug-targetable mutations to allow patients faster access to personalised therapy.

We are very hopeful this could change the face of diagnostics in thyroid cancer. Being able to more accurately determine the likelihood of thyroid cancer can direct how much treatment would need. It could help determine whether hemithyroidectomy (partial thyroid removal) or total thyroidectomy (full removal) is required, and whether the patient is likely to need radioiodine treatment or not.

Read about Dr Nieto's study

2020 BTF Research Award -  A novel genetic cause of medullary thyroid carcinoma

Prof Márta Korbonits

Medullary thyroid cancer (MTC) is a relatively rare but aggressive type of thyroid cancer which is often genetically determined and runs in families. Most of these familial tumours are known to be related to mutations of a gene called RET. This has allowed early diagnosis in family members, and preventative surgery to be undertaken. However, some familial MTC does not appear to involve RET, making it harder to diagnose.

In 2020 we funded a research study led by Prof Márta Korbonits to identify a wholly new gene mutation in families who develop MTC without RET mutations.

Prof Korbonits said: Our BTF Research Award allowed predictive genetic screening of family members of patients with familial MTC carrying a novel genetic alteration. This has crucial relevance for the families and their physicians allowing cancer prevention and shaping the demanding screening process for this otherwise devastating disease.

From the patients’ viewpoint, we can now use this information to demonstrate which family members in such families are likely to develop MTC, and hence we can offer surveillance and early operation to avoid cancer development. This will also help to exclude family members who are not at risk.

In the longer term, understanding the mechanism for tumour development in these patients may lead the way to find novel medical therapies for both these families, and quite possibly for the larger group of patients with sporadic MTC. This is an exciting and fast-developing area of research which has direct implications for patient care and would not have been possible but for the BTF Research Award.

Read about Prof Korbonits' study

2015 BTF Research Award - Diagnosis and management of Resistance to Thyroid Hormone (RTHα)

Prof Carla Moran

Resistance to Thyroid Hormone (RTHα) is a newly-recognised rare genetic condition with resistance to hormone action in particular tissues (e.g. skeletal muscle, heart, brain, bone), but near-normal circulating thyroid hormones.

We funded a study led by Prof Carla Moran to improve diagnosis of RTHα and to help establish whether treatment with thyroxine overcomes hormone resistance in some tissues without causing toxicity in other tissues that retain hormone sensitivity.

Read about Prof Moran's study