Understanding inherited thyroid disorders
Thyroid Physiology Studies of Inherited Disorders
['FUNDING_R01'] · UNIVERSITY OF CHICAGO · NIH-11249537
This project looks at how inherited gene changes cause thyroid problems and uses patient samples, lab-grown thyroid organoids, gene editing, and animal models to help people with genetic thyroid conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11249537 on ClinicalTrials.gov |
What this research studies
You may be asked to send blood or tissue samples from clinics around the world so researchers can study specific gene changes behind inherited thyroid problems. They grow human thyroid cells in the lab as organoids and use gene-editing tools like CRISPR or PiggyBac to recreate mutations and see how thyroid cells respond to TSH. Scientists also study mice and cell models to learn how enzymes that activate or remove thyroid hormone and genes like LRP2 and PKHD1L1 cause symptoms. All of this lab work aims to point the way toward better genetic diagnosis and future gene-based treatments.
Who could benefit from this research
Good fit: Ideal participants are people with known or suspected inherited thyroid disorders (for example mutations affecting deiodinases, LRP2, PKHD1L1, or TSH resistance) or people willing to provide clinical samples and detailed medical information.
Not a fit: People with common non-genetic thyroid problems (such as routine autoimmune hypothyroidism or transient thyroiditis) or those unwilling to provide samples are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could lead to clearer genetic diagnoses and pave the way for targeted gene therapies or treatments for people with inherited thyroid disorders.
How similar studies have performed: Previous work has identified several genetic causes of thyroid disease and lab models including organoids and CRISPR editing have shown promise, but translating these approaches into patient therapies is still at an early stage.
Where this research is happening
CHICAGO, UNITED STATES
- UNIVERSITY OF CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: REFETOFF, SAMUEL — UNIVERSITY OF CHICAGO
- Study coordinator: REFETOFF, SAMUEL
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Allan-Herndon syndrome, Allan-Herndon-Dudley syndrome