INTERVIEWS
Investigar, acompañar y sensibilizar: los retos pendientes en Duchenne
Con motivo del Día Mundial de Concienciación sobre la Distrofia Muscular de Duchenne, que se celebra cada 7 de septiembre, desde AELMHU hemos entrevistado a Silvia Ávila, presidenta de Duchenne Parent Project España, una entidad que trabaja para impulsar la investigación, defender los derechos de los pacientes y ofrecer apoyo integral a las familias que conviven con esta enfermedad rara.
Enfermedades autoinflamatorias: 80 patologías con retos comunes
Hablamos con Cuca Paulo, presidenta de Stop Autoinflamatorias-FMF (Asociación Española de Enfermedades Autoinflamatorias y Fiebre Mediterránea Familiar), con motivo del Mes de las Enfermedades Autoinflamatorias, sobre la evolución de estas patologías y el papel que desempeñan las asociaciones de pacientes en su abordaje.
Dr. Mª Luz Couce: "Newborn screening saves lives. We need to keep improving it."
To mark World Neonatal Screening Day, we interviewed Dr. María Luz Couce, scientific director of the Santiago de Compostela Institute for Health Research (IDIS), a national and international leader in inherited metabolic disorders and one of the most authoritative voices in this field.
“Donating blood saves lives”: the reality for people with thalassemia
Interview with Massimo Lugas, president of the Spanish Association for the Fight Against Hemoglobinopathies and Thalassemias (ALHETA) on the occasion of World Blood Donor Day.
Porphyria: The Emotional and Social Impact of Rare Diseases
To mark International Porphyria Patients Day, celebrated on May 18, we interviewed Fide Mirón, president of the Spanish Porphyria Association (AEP), to learn about the challenges still facing the treatment of these conditions and the important role of patient advocacy groups.
The Importance of Patient Experts in Rare Diseases
To mark World Hereditary Angioedema Day, the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU) interviewed Soledad Travesedo, a patient with hereditary angioedema and an active member of the Spanish Association of Familial Angioedema (AEDAF), to learn firsthand what it is like to live with this rare disease.
616874, the code for people with undiagnosed rare diseases
To mark World Undiagnosed Patients Day, we at AELMHU interviewed Dr. Francesc Palau, distinguished researcher at Sant Joan de Déu Hospital and the SJD Research Institute, group leader at CIBERER, and scientific coordinator of Orphanet Spain, to discuss one of the fundamental pillars in the field of rare diseases: diagnosis.
Alpha-1 Deficiency: The Importance of Earlier and More Accurate Diagnosis
To mark European Alpha-1 Day, we interviewedMariano Pastor, president of the patient association Alfa-1 España, about the importance of early diagnosis in managing this condition and the vital role played by patient organizations.
Cystic Fibrosis: A New Reality in Childhood and Adulthood
To mark National Cystic Fibrosis Day, we interviewed Esther Quintana, president of the Spanish Cystic Fibrosis Society (SEFQ), an adult pulmonologist, and head of the Cystic Fibrosis Unit at the Virgen del Rocío University Hospital in Seville, and Pedro Mondéjar, president-elect of the SEFQ, a pediatric pulmonologist and head of the Cystic Fibrosis Unit at the Virgen de la Arrixaca University Clinical Hospital in Murcia.
Primary immunodeficiencies: 550 rare diseases of the immune system
To mark World Primary Immunodeficiency Week, AELMHU interviewed Pere Soler Palacín, head of the Pediatrics Department at the Vall d’Hebron University Hospital and president of the Barcelona PID Foundation, to discuss the main challenges in addressing these conditions.
