Dra. Gema Esteban Bueno
Especialista en Medicina Familiar y Comunitaria Coordinadora del Equipo multidisciplinar del Síndrome de Wolfram Español
Below are the most important activities led by Dr. Gema Esteban Bueno as head of the Spanish Clinical Wolfram Syndrome Team and scientific head of the Spanish Association for Research and Assistance to Wolfram Syndrome (AEIASW).. It also lists the scientific-bibliographic resources that seek to disseminate, support and improve the quality of life of those affected by Wolfram Syndrome and their families, while seeking better medical assistance from healthcare professionals. Most bibliographic resources are in Spanish.
Projects underway
ü The Spanish Clinical Team of the Wolfram Syndrome is in the final phase of its project Study of the Clinical Phenotype and Evolutionary Course of Spanish Patients with Wolfram Syndrome. PI-0410-2016 CS 2016 – PROJECTS I+I. We look forward to publishing our results soon
ü Soon in Spain the clinical trial coordinated at the International level by Dr. Timothy Barrett will begin and that in Spain will coordinate Dra. Gema Esteban Bueno with the Spanish multidisciplinary group of the Syndrome of wolfram that will value patients in Almería
ü The Spanish multidisciplinary Wolfram Syndrome team has begun to evaluate patients who do not have the criteria of inclusion to participate in the valproic acid trial to study and recommend if appropriate, GLP-1 therapy thanks to the collaboration with Dr. Mariana Igoillo-Esteve and her team.
Following this project, Dr. Gema Esteban Bueno has created a SAMFYC genetics clinical-rare diseases Group of SAMFYC in December 2019 in which is part of the Research Team of this project and whose objective is to continue the work initiated.
Protocol of action before the health act of the genetic counseling: It is currently under review for completion. Document that discloses the main genetic characteristics of Wolfram Syndrome and proposes a model of action to the healthcare professional that should offer genetic advice. This document in turn will be a means of information for patients and families about their condition, ways to prevent or mitigate it, warn about the consequences of the disease, the likelihood of transmission and how this can be avoided or improved by also providing information that would allow at-risk couples to make reproductive decisions.
Scientific Article:
Title: Natural history and clinical characteristics of 50 patients with Wolfram Syndrome.
Authors: Gema Esteban Bueno, Dyanne Ruiz-Castañeda, Javier Ruiz Martínez, Manuel Romero Muñoz, Pedro Carrillo Alascio.
Document: Wolfram Best Practices (WBP). Wolfram Syndrome Action Guide for Cynic Practice.
Authors: Coordinator Gema Esteban Bueno. Authors; Spanish Clinical Group of Wolfram Syndrome. Other experts participate as external reviewers and throughout the process involves a representative of patients belonging to the Spanish Association for research and assistance to Wolfram Syndrome in order to adjust to the concerns/needs of families.
This guide has taken almost 3 years to develop given the complexity of its design when collecting degrees of evidence, expert recommendations and patient needs. Pretains to be an instrument that allows on the one hand, guide professionals involved in assisting SW patients by assisting them in making management decisions, as well as reducing variability in clinical practice by relying on a rigorous evidence-based methodology, which has the consensus of experts on the subject; and, on the other hand, be a support for patients where they can find useful information on the management of their disease, as well as the availability of resources that they can access in order to increase their quality of life.
It is a document endorsed by the Ministry of Health of Andalusia (Spain) and the Spanish Society of Family and Community Medicine SAMFYC. It will be available online free access by October 2020
Book: biopsychosocial perspective of rare diseases: Wolfram Syndrome as an rare disease model. “perspectiva biopsicosocial de las enfermedades raras: el Síndrome de wolfram como modelo” (Authors: Gema Esteban Bueno Y Dyanne Ruiz Castañeda)
This document that will be published soon in book format, aim to guide professionals and patients about the current state of rare diseases in Spain. From a biopsychosocial perspective, issues such as the health impact of them are touched, the importance of an intervention that addresses biological, psychological and social aspects of patients and their families; and finally, Wolfram Syndrome is taken as an ER model to explain the work that the Spanish Clinical Group of SW has done in recent years, with the aim of improving the quality of life of this group. In this way, there are finally guidelines that may be applicable to the attention of various ERs.
Available in free access at: https://www.ceasga.es/app/download/7882419264/Libro%20Enf%20Raras%202%20complete.pdf?t=1584607465
Book Chapter: Socio-hermeneutic analysis of social aspects related to Wolfram Syndrome. Authors: Juan Romay Coca, Gema Esteban Bueno, Alberto Soto Sánchez
Location: Rare Diseases: Contributions to Social and Biomedical Research / Coord. by Juan Romay Coca,2019, ISBN 978-84-949321-3-7, pp. 99-113
Language: Spanish. Parallel titles: Socio-hermeneutics analyze of social aspects related with Wolfram Syndrome
Available for free on; https://www.researchgate.net/publication/331487439_Analisis_socio-hermeneutico_de_los_aspectos_sociales_relacionados_con_el_Sindrome_de_Wolfram
Best regards,
Gema