Rare Diseases and Their Management in Referral Hospitals in Barcelona

The medical field identifies rare diseases as orphan diseases because they impact less than 1 in 2,000 people worldwide but there are more than 7,000 such diseases globally. The total number of people affected by these rare diseases exceeds 300 million worldwide while Spain has approximately 3 million such patients. The Barcelona International Hospitals (BIH) network provides expert multidisciplinary care for these complex conditions because of its leading institutions.

The BIH unites several top hospitals in the city which maintain international focus and deliver innovative medical care at high standards. The hospitals function as referral centers for rare diseases because they provide early diagnosis and complete treatment and access to innovative research and clinical trials.

Understanding Rare Diseases: A Complex Medical Challenge

Rare diseases consist of chronic and progressive and life-threatening medical conditions. The genetic origin of rare diseases accounts for 80% of all cases and most of them start during childhood. The causes of these diseases include infections as well as autoimmune disorders and environmental factors. The rarity of these diseases leads patients to undergo extensive diagnostic procedures before receiving their correct medical diagnosis from multiple specialists.

The importance of referral hospitals that specialize in rare diseases becomes evident because of this reason. The hospitals provide centralized expertise while using genetic testing to simplify diagnosis and deliver individualized long-term care plans for each patient’s specific condition.

BIH Hospitals at the Forefront of Rare Disease Care

Hospital Sant Joan de Déu Barcelona (SJD)

SJD operates as one of Europe’s top pediatric hospitals which serves as a reference point for diagnosing and treating rare diseases. The Pediatric Institute for Rare Diseases (IPER) at this hospital provides specialized care for complex and ultra-rare diseases in children.

• Multidisciplinary Teams: Patients are treated by coordinated teams including geneticists, neurologists, immunologists, and psychologists.
• Advanced Genomic Diagnostics: SJD offers rapid genetic testing and counseling, enabling earlier and more precise diagnoses.
• International Collaboration: The hospital is part of various European Reference Networks (ERNs) and created the digital platform Share4Rare to connect families and researchers worldwide.
• The Únicas Network: This pioneering digital network coordinates pediatric rare disease care across Spain using telemedicine and data integration.

SJD combines high-technology diagnostics with a strong focus on emotional and social support for children and families.

barnaclínic+ (Hospital Clínic Group)

barnaclínic+ is the private healthcare unit of Hospital Clínic de Barcelona, a globally recognized teaching and research hospital. The hospital operates as a worldwide teaching and research facility and serves as a referral center for multiple rare diseases affecting adults.

• ERN Memberships: The hospital participates in six ERNs including rare neurological, pulmonary, and liver diseases.
• Translational Research: Through its research institute, IDIBAPS, the hospital develops innovative therapies and biomarkers.
• Expertise in Complex Cases: Specialists work on rare autoimmune disorders, inherited metabolic conditions, and rare forms of cancer.
• International Patient Services: barnaclínic+ provides tailored programs for international patients, including second opinions and access to experimental treatments.

Its combination of clinical depth, research leadership, and global accessibility makes it a top destination for adults with rare diseases.

Centro Médico Teknon (Quirónsalud Group)

Teknon is a renowned private medical center that offers high-complexity care across multiple specialties. It is especially known for managing rare disorders in neurology, oncology, and immunology.

• Precision Medicine: Teknon applies personalized treatment plans for patients with rare genetic conditions, immune system dysfunctions, and neurodegenerative diseases.
• Rare Cancer Syndromes: Its oncology team handles hereditary cancer syndromes and rare tumor types.
• International Coordination: With multilingual care managers, the hospital ensures smooth experiences for international patients with rare and complex conditions.

Hospital Universitari Dexeus (Quirónsalud Group)

Dexeus is a leader in women’s health, maternal-fetal medicine, and neonatal care, with expertise in rare diseases related to reproduction and early development.

• Prenatal Genetic Testing: The hospital offers advanced fetal screenings for detecting congenital and hereditary anomalies.
• Pediatric Transition Care: Collaborates with other centers to ensure continued care for children with rare conditions as they reach adulthood.
• Inherited Disorders in Gynecology: Dexeus manages genetic syndromes that affect reproductive health, such as Turner syndrome or fragile X syndrome.

This hospital is particularly suited to rare diseases affecting mothers, babies, and families during early life stages.

Hospital Quirónsalud Barcelona

The hospital Quirónsalud Barcelona offers full medical care in all specialties and has strong programs in internal medicine, oncology and neurology. It is playing an increasing role in rare disease care.

• Complex Diagnostic Capabilities: With full diagnostic imaging and lab services, the hospital is equipped to identify rare diseases quickly and accurately.
• Specialist Networks: The hospital integrates multiple subspecialists to manage conditions like rare endocrine disorders, mitochondrial diseases, and rare neurological syndromes.
• Clinical Trials Access: As part of the Quirónsalud network, patients may access research and trials for emerging therapies.

The hospital’s blend of technology, experience, and global patient care orientation makes it a strong option for complex cases.

Fundació Puigvert: Urology and Renal Genetics

Specializing in nephrology, urology, and andrology, Fundació Puigvert is one of Europe’s top centers for rare kidney and urinary tract disorders.

• Rare Renal Diseases: The hospital treats genetic kidney diseases such as Alport syndrome and polycystic kidney disease.
• Male Reproductive Syndromes: Experts handle rare causes of male infertility and congenital anomalies.
• Multidisciplinary Clinics: Teams include nephrologists, urologists, geneticists, and endocrinologists, ensuring a holistic approach.

Its focus on genitourinary rare conditions complements the strengths of other BIH hospitals.

Discover all BIH-affiliated hospitals and their advanced medical services by visiting this page: Hospitals.

Why Choose BIH for Rare Diseases?

Barcelona International Hospitals offer a unique combination of advantages for rare disease patients:

• Multidisciplinary teams experienced in rare, complex, and genetic disorders
• Access to advanced genomic diagnostics and molecular testing
• Participation in European networks and clinical research
• Patient-centered care that includes case management, international support, and digital tools
• Commitment to innovation through translational research and personalized medicine

The experience of dealing with a rare disease creates a deeply personal and overwhelming situation for patients. The BIH network of hospitals provides internationally recognized expertise, cutting-edge diagnostics, and compassionate, coordinated care. The BIH hospitals lead the management of rare diseases for both children and adults and for genetic and acquired conditions while offering medical solutions and hope to patients.

Take the first step toward expert care — contact us today to explore your treatment options or schedule a consultation.