A rare disease is defined as a disease with less than 5 affected individuals in 10.000 people. However, taken together, rare diseases are not as rare as one might think. Rare diseases comprise roughly some 6000 -8000 different clinical entities with genetic causes accounting for approximately 80% of rare diseases. In Europe some 30 million people are estimated to suffer from a rare disease.

Due to advances in molecular diagnosis and early metabolic testing, many individuals are being diagnosed in infancy or early childhood. Of note, nowadays individuals with a rare disease may even be diagnosed in utero - as commonly seen in tuberous sclerosis complex disease. Nevertheless, in real life, it can often be quite challenging for affected people to find a physician with specific expertise in this field, thus leading to a delay in establishing a correct diagnosis and initiation of early, adequate treatment if available. Therefore, expert centers for rare diseases have been established by many university and tertiary hospitals. The aim of these centers is to create a network to facilitate diagnosis and optimize treatment and to generate and coordinate research activities. Treating rare diseases requires close cooperation between experts of various medical disciplines in a truly interdisciplinary setting. If a specific drug therapy is available, this is often associated with substantial costs for the health care system.

This Research Topic in Frontiers in Pediatrics will focus on new developments in genetic/genomic testing, translational research as well as new and emerging drug therapies for children with rare diseases, and invites experts throughout the world to share their knowledge and experience by submitting up-to-date, cutting-edge reviews in this particular field of medicine. Potential areas of interest include, but are not limited to the following topics:
- Genetic/genomic testing in children with rare diseaes
- From gene to treatment: translational research in rare diseases
- Inborn errors of metabolism: Enzyme replacement therapy in lysosomal storage diseases
- Neuromuscular disorders (eg, Duchenne muscular dystrophy)
- Spinal muscular atrophy
- Autoimmune diseases (eg, multiple sclerosis)
- Rare diseases affecting the skeleton (eg, hypophophatasia)
- Periodic fever syndromes

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