Rare diseases are conditions that affect a small number of people compared to more common diseases. These conditions, often genetic, present varied and complex symptoms that can affect multiple systems in the body. Although each rare disease may have distinct characteristics, collectively they represent a significant challenge for diagnosis and treatment. It is estimated that there are more than 7,000 rare diseases, many of which have a severe impact on the quality of life and life expectancy of those affected. Some examples of these diseases include Hereditary Hemorrhagic Telangiectasia (HHT), Von Hippel-Lindau syndrome (VHL), propionic acidemia (PA), hyperphenylalaninemias, and syndromes such as Joubert (JBTS), Bardet-Biedl (BBS), Ellis-van Creveld (EvC), and Meckel-Gruber (MKS).
To research these diseases, cellular and animal models are used to uncover the underlying mechanisms and explore potential therapies. These models are crucial for understanding the specific biology of each rare disease and for developing treatments that may alleviate symptoms and improve outcomes. Research in this field has advanced considerably in recent years, providing valuable insights that have led to the development of personalized therapies and innovative approaches to treat these conditions.
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