Page 86 - MemoriaCIBER2019-ENG

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CIBER Annual report 2019
Lluis Montoliu published several popular science books in 2019: “Editando genes: recorta, pega y colorea” (“Editing genes: cut, paste and color”); (NextDoor Publishers), “¿Qué sabemos de...? El Albinismo” (“What do we know about ...? Albinism”) (Catarata / CSIC) and the digital version of the book “What is albinism?”
Isabel Varela-Nieto has joined the European action COST 17103 Delivery of Antisense RNA Therapeutics, on therapies with antisense oligonucleotides.
The Annual Meeting of the Research Programme, organised by Gemma Marfany, took place at the Faculty of Biology of the University of Barcelona on December 3, which was attended by the President of Retina Asturias, Andrés Mayor.
Endocrine
Medicine Programme
Coordinator: Susan Webb Youdale
This Research Programme is made up of only three full-fledged research groups and a fourth associated group,
hence the importance of incorporating the additional strength of the Linked Clinical Groups.
In 2019, among the publications of the groups associated with this Research Programme we highlight the work resulting from the collaboration between various groups of the programme within a translational medicine project financed by CIBERER in which different polymorphisms are described in the POMC gene in endocrine tumors “Why don’t corticotroph tumors always produce Cushing’s disease? Eur J Endocrinol. 2019 Sep; 181 (3): 351-361” by Webb y Picó.
This group also includes the review article focused on analysing the deficiencies in the care of people with diseases that alter normal development and sexual maturation “Addressing gaps in care of people with conditions affecting sex development and maturation. Nat Rev Endocrinol. 2019 Oct; 15 (10): 615-622” led by Dr. Moreno; the work done on Cushing’s syndrome in both the quality of life of patients “Quality of Life in Patients With Cushing’s Disease. Front Endocrinol (Lausanne). 2019 Dec 11; 10: 862 ”, as well as on the results of the ERCUSYN registry focused on determi- ning the causes of the highest mortality present in patients with Cushing syndrome “High mortality within 90 days of diagnosis in patients with Cushing’s syndrome: results from the ERCUSYN registry . Eur J Endocrinol. 2019 Nov; 181 (5): 461-472” from Dr. Webb’s group. Also, the work of the group led by Dr. Guadaño, focused on the development of a murine model for the study of human deficiency of MCT8 “Adult Mice Lacking Mct8 and Dio2 Proteins Present Alterations in Peripheral Thyroid Hormone Levels and Severe Brain and Motor Skill Impairments. Thyroid. 2019 Nov; 29 (11): 1669-1682”, the characterisation of the TRPM8 thermoreceptor in mouse brain thermoregulatory circuits “Expression of the cold thermoreceptor TRPM8 in rodent brain thermoregulatory circuits. J Comp Neurol. 2019 Apr 3” and the new entry route of thyroid hormones in the human fetal brain “Thyroid hormone availability in the human fetal brain: novel entry pathways and role of radial glia. Brain Struct Funct. 2019 Jul; 224 (6): 2103-2119.” And finally, the description of a new mutation in the AMRH2 gene related to persistent Müllerian duct syndrome from the group led by Dr. Moreno “A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndro- me. Sex Dev. 2019; 13 (2): 87-91”.
In addition, we would like to highlight the award of the European Society of Endocrinology received by Dr. Webb. This prestigious award distinguishes clinical research in aspects of endocrinology at the forefront of clinical practice and is sponsored by the Clinical Endocrinology Trust.