Feb 27, 2026
3 min read
In honor of World Rare Disease Day next Saturday, February 28, Val d'Hebron is focusing on a day today:
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Minority Illness Day
Vall d'Hebron is a reference center for rare diseases at national and international level, both in patient care and in research to improve their treatment and diagnosis.
Ing wusana World Rare Disease Day, next ana, February 28, Vall d'Hebron dianakaké conference dina sing wis Minangka the main axis The importance of neonatal screening and how to treat patients and kindaniné to join forces with researchers to promote research, really complex multidisciplinary care with professional experts from different medical specialties. The conference was inaugurated by Dr. Maria José Abadias, Director of Medical Care at the University Hospital Valld'Hevron, Dr. Mireia del Toro, Coordinator of the Hospital's Rare Disease Program and Department of Metabolic Diseases, and Dr. Anna Santamaria, Director of Scientific Strategy at the Val d'Hevron Research Institute (VHIR).
Newborn screening has been implemented in 27 serious rare diseases in Catalonia, where rapid action changes the prognosis significantly and avoids possible consequences.Year after year, the list of diagnosed diseases has grown: last year additions were spinal muscular atrophy and congenital adrenal hyperplasia.The first log test of heel pain an hour after birth, has been life changing.Despite the impact families initially experience, newborn screening opens the door to changing a child's prognosis and improving quality of life," explains Mireia del Toro.
In 2017, the Catalan Public Health System became the first in Europe to include universal recognition of severe combined immunodeficiency, known as "bubble boy syndrome", in its newborn screening program.Without newborn screening, the diagnosis is too late, between three and six months, often when the baby has already suffered an infection and vital organs are affected.is reduced to 40-60%, while early diagnosis and appropriate treatment increase survival to 95%.Since then, more than half a million children have been screened, twelve of them suffered from severe combined immunodeficiency and one congenital anemia.Val de Hebron is also a reference center that screens the most diseases in Catalonia and is congenital hypothyroidism, immunodeficiencies and sickle cell carcinoma.It is the only focus of disease.In addition, it is involved in spinal muscular atrophy, congenital adrenal hyperplasia, cystic fibrosis and metabolic diseases.
New horizons for newborn screening in Catalonia, European policies and the impact of rare disease detection in children were among the issues discussed today at the Rare Diseases Conference, with presentations and panels by experts in primary care for these patients.
Researchers and families, hand in hand to advance research
The second panel of the conference on minority diseases focused on how patients, family members, and researchers are playing a key role in the fight against minority diseases, with a roundtable discussion by Dr. Belen Pérez Divas, Chief of Pediatric Neurology at Val d'Hebron Hospital, Group Leader for Treatment and Innovations and Disease Specialist in Other Diseases at the VHIR for Minority Diseases He often works with researchers to promote research:Testimonies were presented, along with Dr. Gemma Arisetta, Head of Pediatric Nephrology at Val d'Hebron Hospital and Renal Physiopathology Research Group at VHIR, Dr. Ana Calada, Pediatric Hematologist, Sickle Cell Anemia Specialist, and Cancer and Pediatric Oncologist Dr. Miguel Chillon, Head of the VHIR Nervous System Gene Therapy Group.
Collaboration between families, patients and researchers has helped to promote knowledge about some ultra-rare minority kidney diseases that develop into kidney failure and for which there is no specific treatment, for example familial hypomagnesaemia, Dent's disease or cystinosis.Thanks to alliances between VHIR and Hipofam (Association for Information and Research on Familial Hypomagnesemia) – and previously with Asdent (Dent's Disease Association) – research aims to find new medicines.Vall d'Hebron also promotes projects that focus on the quality of life of patients with the cystinosis group and advances in basic and clinical research.Similarly, the collaboration between FEDER (Spanish Federation for Rare Diseases) represents an important umbrella, as it brings together and supports patients and researchers with global strategies.
The involvement of patients and their families also encourages research into new drugs to treat childhood cancer - with the support of the Albert Bosch Foundation and Noel Alimentaria - to name two recent examples.Patients like Ànnia, who suffered from a brain tumor when she was just six years old, and her family are helping to find new treatments: today, through their collaboration, 8,000 columns have launched a project to develop more effective and, at the same time, safer treatments, such as immunotherapy to treat children's brain tumors.
References in minority diseases
Vall d'Hebron is a center of reference in rare diseases both nationally and internationally, because it participates in 20 European ERN networks dedicated to rare diseases and has nearly twenty specific CSURs for rare diseases (out of a total of 50 accreditations it has), a fact that recognizes its extensive experience in the diagnosis and treatment of these complex pathologies.Fifteen groups participate in research on minority diseases of the VHIR that are dedicated to the study of these pathologies, with the aim of generating new knowledge, improving diagnostic capacity and developing new therapeutic approaches that have a direct impact on the quality of life of patients and their families.
Pediatric Infectious Pathology and Immunodeficiency Unit, Children's Hospital, Women's Hospital
Pediatrics, Children's Hospital and Women's Hospital
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