World Rare Diseases Day Conference

Dr. Rosario Sánchez
Dra. Clara Clavero
Dra. Carmen Espinós
Dr. José M. Millán
Dr. Óscar Zurriaga
Dña. Elena Bertomeu
D. José Antonio Mas
Dra. Ana Tobarra

Ana Obispo
Alberto García
Guillem Sáez

Organized by: The Alicante Health and Biomedical Research Institute (ISABIAL), the Translational Research Alliance on Rare Diseases of the Valencian Community (AITER), and the Spanish Federation of Rare Diseases (FEDER).

Target audience:

  • Patients and families.
  • Healthcare professionals.
  • Research staff.

Format: In person.

Date: 02/03/2023

Location: Assembly Hall, Dr. Balmis University General Hospital of Alicante.

On March 2, ISABIAL will host the World Rare Diseases Day conference, also promoted by the Translational Research Alliance on Rare Diseases of the Valencian Community and FEDER.

The conference is aimed at patients and families, healthcare professionals, and research staff.

In addition, if you are a researcher in this field, you can present your work in poster format by following the steps in the registration form.

Individuals interested in attending or presenting a poster must register in advance by completing the registration form before February 27.

Exhibition:

On the occasion of this conference, the Lucentum will host the photographic exhibition “Rare Diseases: Cutting-edge research”, created by the Príncipe Felipe Research Center (CIPF).

This exhibition consists of a selection of photographs on rare disease research carried out by researchers from the Biomedical Research Networking Center (CIBERER). All of them were submitted to the two editions of the Photography Contest on Rare Disease Research, in 2021 and 2022.

For any additional information or inquiries about the conference, please contact the Communication Area of the ISABIAL Foundation.

Program Press release

Program

  • Accreditation distribution.
  • Dr. Cristina Alenda. Scientific Deputy Director of ISABIAL.
  • Mr. Miguel Ángel García. Manager of the Alicante-General Hospital Health Department, President of the Governing Board and Vice President of the Board of Trustees of the ISABIAL Foundation.

Moderated by: Dr. Clara Cavero. Joint Research Unit in Rare Diseases, Foundation for the Promotion of Health and Biomedical Research of the Valencian Community – University of Valencia (FISABIO-UVEG).

  • Antonio Picó. ISABIAL Group 20 on Neuroendocrinology research. Department of Clinical Medicine, Faculty of Medicine, Miguel Hernández University. Endocrinology and Nutrition Department, Dr. Balmis General University Hospital. “Silent corticotropinomas: an aggressive subtype of pituitary tumor”.
  • Regina Rodrigo. Príncipe Felipe Research Center (CIPF) of Valencia. Unit 755 CIBER of Rare Diseases (CIBERER). “Neuroprotection, nutraceuticals and hereditary retinal dystrophies”.
  • Máximo Ibo. Polytechnic University of Valencia (UPV). Joint CIPF-UPV Unit on Disease Mechanisms and Nanomedicine. “Drosophila models for the study of rare epileptic encephalopathies”.
  1. Sirera Sirera P, García Payá E, Francés Ferre J, González Hermoso I, Martínez Olivares J, Rojas Gómez C and Martínez Fernández E. Deletion of the FOXC1 gene, a case report.
  2. Hinarejos I, Machuca C, García-Navas D, Darling A, Erceg S and Espinós C. Purkinje cell model for the study of the pathophysiology of neurodegeneration associated with PLA2G6 (PLAN).
  3. Ripollés E, Sánchez-Monteagudo A, Berenguer M, Álvarez Sauco M, Girona E, Sastre-Bataller I, Martínez-Torres I, García-Villarreal L, Tugores A and Espinós C. Plasma miRNA profile associated with the diagnosis/prognosis of Wilson’s disease.
  4. Martínez-Rubio D, Sancho P, Hinarejos I, Lozano MA, Martí I, Baviera R, Sastre I, Martínez-Torres I, Andrés-Bordaría A, Sánchez-Monteagudo A, Darling A, Ruiz Á, Lupo V, Pérez-Dueñas B, Aguilera S and Espinós S. Mutations, genes and phenotypes related to movement disorders: an endless list.
  5. Sánchez-Sáez X, Ruiz Pastor MJ, Kutsy O, Albertos-Arranz H, Sánchez-Castillo C, Martínez-Gil N, Otró-Urzanari I, Vidal Gil E, Méndez M, Sánchez-Martín M, Maneu V, Lax P and Cuenca N. CENTRAL AREOLAR CHOROIDAL DYSTROPHY MODEL GENERATED BY CRISPR WITH A MUTATION IN THE PRPH2 GENE REPRODUCES THE SIGNS OF DYSTROPHY.
  6. Sánchez Martínez R, Ramos Rincón JM, Muriel Serrano J, García Payá E and Navarro De Miguel M. HUMAN LEUKOCYTE ANTIGEN (HLA) SYSTEM ON THE SEVERITY AND MORTALITY OF COVID-19.
  7. Gómez Román M, Pérez Amorós J, Pérez Pérez JL, Nofuentes Pérez E, Gayá García-Mansó I, Gil Carbonell J, Arenas Jiménez J and García Sevilla R. HYPERSENSITIVITY PNEUMONITIS IN OUR CENTER: FIBROTIC VS NON-FIBROTIC.
  8. González Hermoso I, Ferri Iglesias MJ, García Payá E, Francés Ferre J, Alamo Marzo JM and Sirera Sirera P. Multiple acyl-CoA dehydrogenase deficiency, a case report.
  9. Sánchez R, de Juan-Ribera J, Gimeno JR, Ripoll-Vera T, López-Mendoza M, Hermida Á, Torra R, Ruiz Zafra MA, Torregrosa V, Mora A, Fortuny E and García-Pinilla JM. First Results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease.
  10. Barrachina-Bonet L, García-Villodre L, Arribas-Díaz B, Páramo-Rodríguez L, Guardiolá-Vilarroig S, Zurriaga O, Martos-Jiménez C and Cavero-Carbonell C. CONGENITAL ANOMALIES AND ASSISTED CONCEPTION: The contribution of the Population Registry of the Valencian Community.
  11. García-Villodre L, Barrachina-Bonet L, Páramo-Rodríguez L, Arribas-Díaz B, Guardiolá-Vilarroig S, Zurriaga O, Martos-Jiménez C and Cavero-Carbonell C. EPIDEMIOLOGICAL SURVEILLANCE OF CONGENITAL ANOMALIES IN THE VALENCIAN COMMUNITY, 2007–2019.
  12. Hervás-Corpión I, Navarro-Calvo J, Martín-Climent P y Valor LM. Epigenetic therapy-associated signature in glioblastomas?
  13. Valor LM, Arroba AI, Cano-Cano F, Martín-Toro F, Ramón-Marco L and Villa P. Neuroinflammation in the retina of animal models of Huntington’s disease.
  14. Navarro de Miguel MM, Sánchez Martínez R, García Payá ME, Gutiérrez Agulló M and Cirela López JL. Beyond the improvement of family genetic testing in rare diseases—Fabry disease.
  15. Serrano J, Argüello T, García ME, Sottile J, Fuentes-Fayos AC, Abarca J, Aranda L, Luque R, Picó A and García-Martínez A. ROLE OF THE APOPTOTIC FACTOR CASP8 AND THE SOMATOSTATIN RECEPTOR FAMILY IN FUNCTIONING AND SILENT CORTICOTROPIC TUMORS.
  16. Picó A, García ME, Sottile J, Argüello T, Fuentes-Fayos AC, Martínez L, Abarca J, Aranda L, Luque RM and García-Martínez A. MSH6: POTENTIAL PROLIFERATIVE BIOMARKER IN SILENT CORTICOTROPIC TUMORS.
  17. Guillén C, Argüello T, Castro M, Sottile J, García ME, Abarca J, Aranda L, Luque R, García-Martínez A and Picó A. Clinical behavior and expression of transcription factors in gonadotropic and corticotropic tumors: do they arise from the same cell line?
  18. García-Martínez A, García ME, Sottile J, Argüello T, Fuentes-Fayos AC, Martínez L, Abarca J, Aranda L and Luque RM y Picó A. IMPLICATION OF THE CABLES1/EGFR AND HSF1/AP1 REGULATORY SYSTEMS IN SILENT CORTICOTROPIC TUMORS.
  19. Pérez Pérez JL, Gómez Román M, Gayá García-Mansó I, Torres Sánchez J, Nofuentes Pérez E, González Moreno M and García Sevilla R. RADIATION-INDUCED PULMONARY FIBROSIS IN GENDER-BASED TREATMENT.
  20. Pérez Pérez JL, Gayá García-Manso I, Gómez Román M, Nofuentes Pérez E and García Sevilla R. Acute fibrinous organizing pneumonia: description of a case series.
  21. Martín-Carrascosa MC and Galindo I. Development and characterization of a CDKL5 deficiency model in Drosophila melanogaster.
  22. Solaro L, Moya L, Martínez E and Navarro JA. Personalized Drosophila melanogaster models for the study of HSP7.
  23. Gougerd N, Díez-Fernández C, De Cima S, Mariano Polo L, Marco-Marín C, Fita I and Rubio V. X-ray and molecular crystallography shed new light on human carbamoyl phosphate synthetase 1 deficiency (HuCPS1).
  24. Hernández-Sierra MP, Marco-Marín C, López-Redondo ML, Láicer JL, Escamilla-Hornubia JM and Rubio V. From plant to patient: A1-pyrroline-5-carboxylate synthetase (P5CS) of Arabidopsis thaliana.
  25. Forcada-Nadal A, Marín-Martín Y, Blázquez D, Espinosa C, Marco-Marín C and Rubio V. Study of the structure and effects of clinical mutations in the human vitamin B6 homeostasis protein, PLPBP, whose deficiency causes vitamin B6-dependent epilepsy.
  26. Giner Alegría CA. Gilles de la Tourette syndrome: psychological intervention.
  27. Serra-Briz M, Guardiola-Vilarroig S, Cavero-Carbonell C, Rodríguez-Páramo L, Gómez-Torró A y Zurriaga O. SIER‑CV Rare Diseases Information System of the Valencian Community. Diseases monitored during the period 2010–2020.
  28. Gómez López T, Corona García JC, López González F, Moliner Castellano S, Aledo Sala C and Vaamonde Esteban Y. WHEN I HAVE BRAIN VESSELS AND I NEED A BIGGER SHOE THAN THE OTHER.
  29. Gómez López T, Leiva Santana C, Díaz Marín C, Guevara Dalrymple N, Ros Arlazón P and Farreros Llpart M. Gerstmann-Sträussler-Scheinker syndrome, a case report.
  30. Nácher Sendra E, Cánovas Cervera I, Ibáñez Cabellos JS, Carbonell Sahuguillo S, Pérez Suárez R, Estad Capi J, Pallardó Calatayud FV and García Giménez JL. Methylation profile in peripheral blood mononuclear cells of neonatal sepsis.
  31. Ros Arlazón P, Corona García D, Aledo Sala C and Sánchez Martínez R. Hirayama disease in the context of Ehlers-Danlos syndrome.

Moderated by: Dr. Carmen Espinós. Príncipe Felipe Research Center (CIPF) of Valencia. Unit 763 CIBER of Rare Diseases (CIBERER). Dr. José M. Millán. La Fe Health Research Institute (IIS La Fe) of Valencia. Unit 755 CIBER of Rare Diseases (CIBERER).

  • Ms. Paula Fernández, Ms. Rocío Muñoz and Ms. Irene Campos. Degree in Occupational Therapy from Miguel Hernández University. “Sensory processing and the impact of its difficulties on occupations during childhood”.
  • Ms. Elena García. Assistant of the genetics laboratory of Dr. Balmis General University Hospital of Alicante and collaborating researcher of the Rare Diseases research group at ISABIAL. “Diagnostic performance of high-density arrays”.
  • Ms. Natalia Martínez. Research group in Neurobiology of Vision and Therapy of Neurodegenerative Diseases of the University of Alicante. “Research and therapy of hereditary retinal dystrophies”.
  • Ms. Claudia Perez. PhD student. Institute of Neurosciences CSIC-UMH. “Effect of bone marrow mesenchymal stem cells (BMMSCs) in adrenoleukodystrophy (X-ALD)”
  • Mr. José Navarro. Coordinator of the Alicante Simulation and Innovation Laboratory (SimIA-ISABIAL). “Multidisciplinary team training based on simulation”.
  • Mr. Javier Esclapés. Coordinator of BIOFAB UA-ISABIAL. BIOFAB_Artefactos Association “Design and social manufacturing of support products to improve the quality of life of people with functional diversity”.

Moderated by: Dr. Óscar Zurriaga. Rare Diseases Information System of the Valencian Community (SIER-CV). General Directorate of Public Health and Addictions. Ministry of Universal Health and Public Health.

  • Mr. Mauro Rosati García-Morato. Member of the Board of Directors of the Spanish Federation of Rare Diseases (FEDER). “Network of centers and services specialized in rare diseases”.
  • Dr. Susana Navarro. CIEMAT / CIBERER / IIS-FJD. “Gene therapies for the treatment of rare anemias”.
  • Dr. Rosario Sánchez. ISABIAL Group 37 researcher in Rare Diseases. Clinical Medicine Department, Faculty of Medicine, Miguel Hernández University. Internal Medicine Department, Dr. Balmis General University Hospital. “Fabry disease in women”.
  • Ms. Concha Andrés. Regional Secretary for Efficiency and Health Technology. Ministry of Universal Health and Public Health.
  • Ms. Fide Mirón. Vice President of the Spanish Federation of Rare Diseases (FEDER).
  • Dr. Rosario Sánchez. ISABIAL Group 37 researcher in Rare Diseases. Clinical Medicine Department, Faculty of Medicine, Miguel Hernández University. Internal Medicine Department, Dr. Balmis General University Hospital.

Video gallery

Rare Diseases Day
02/03/2023
10:30 to 13:30 hours
Assembly Hall of Dr. Balmis General University Hospital
Evento ISABIAL
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