| The term "rare diseases" refers to diseases with a low prevalence rate that are difficult to diagnose and treat due to their rarity and complexity. Genetic diagnosis has become increasingly important for patients with rare diseases, who often struggle to obtain an accurate diagnosis through traditional methods. Recent advancements in genomic technologies, such as whole-exome sequencing and whole-genome sequencing, have greatly improved the ability to identify disease-causing genetic mutations in patients with rare diseases. Collaborative efforts between researchers and clinicians have led to the discovery of new rare disease genes and the development of novel therapies. However, many rare diseases still have unknown genetic causes, which makes diagnosis through genetic testing impossible. Additionally, genetic testing can be expensive and may not be covered by insurance, limiting access for some patients. Interpretation of genetic data can be challenging, particularly in cases where multiple genetic mutations are identified or where the significance of a mutation is unclear. Finally, genetic testing may identify variants of unknown significance, leading to uncertainty and confusion for patients and clinicians. In this presentation, I will illustrate the advancements and limitations of genetic studies for various genodermatoses, including epidermolysis bullosa and palmoplantar keratoderma. Efforts to improve access to genetic testing and to better understand the genetic basis of rare diseases will be crucial for improving diagnosis and treatment options for patients in the future. |
