- Beatriz Muñoz, student of the Thyroid Hormones and Central Nervous System group at the IIBM, won the first prize of the Chair of Low Prevalence Diseases at the University of Almeria for her Master's Thesis, directed by Soledad Bárez López, on Allan-Herndon-Dudley syndrome
Beatriz Muñoz Falder has been recognized with the First Prize for the best Master's Thesis in the First Edition of the Awards for the Best Scientific Work of the Chair of Low Prevalence Diseases of the University of Almeria. Her work, entitled “Exploring the pathophysiology and potential therapeutic strategies for Allan-Herndon-Dudley syndrome”, was developed within the framework of the Master in Molecular Biomedicine of the Universidad Autónoma de Madrid (UAM) during the academic year 2023-2024, under the mentorship of Soledad Bárez López from the Laboratory of Thyroid Hormones and Central Nervous System at the Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM), CSIC-UAM.
Allan-Herndon-Dudley syndrome is a rare disease caused by mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8). This transporter is crucial for the entry of thyroid hormones into the brain during development, as it facilitates their passage across brain barriers. To date, there is no effective treatment for this pathology, which is characterized by generally very severe intellectual disability, as well as speech disorders and neuromotor and movement disorders.
With a multidisciplinary approach, the research combines molecular analysis with preclinical studies, using molecular biology and bioinformatics techniques. This work represents a significant advance in the understanding of the disease and could lay the groundwork for future treatments.
“Receiving this award is an honor and a great motivation to continue researching in this line. I would like to highlight the work of the University Chair of Low Prevalence Diseases, a pioneering initiative in Andalusia promoted by the Fundación Poco Frecuente, in collaboration with the University of Almeria and the Official College of Physicians of Almeria. With a strong international vocation, this chair is dedicated to research, transfer, training, dissemination and awareness of low prevalence diseases, playing a key role in the health and social field,” adds Beatriz.
The IIBM congratulates Beatriz, and also the director of the TFM Soledad Bárez López, for this prestigious recognition. The IIBM is proud to include such outstanding young researchers.
Link to the website of the Chair of Rare Diseases at the University of Almeria