With over 300 million people worldwide living with a rare disease, Rare Disease Day aims to raise awareness of what it means to be rare. On the last day of February each year, the Rare Disease community comes together to work toward more equitable access to diagnosis, treatment, care, and social opportunity for people with a rare disease.
For Rare Disease Day 2021 (#RareDiseaseDay), Cyagen extends our support to achieving equity for people living with a rare disease through informative and collaborative research resources.
Rare diseases are defined as any disease which affect a small percentage of people in the general population, with the specific threshold of rarity varying by territory. Due to their rarity and high level of symptom complexity, rare diseases are often difficult for health professionals to diagnose. The National Institutes of Health estimated that there may be as many as 7,000 rare diseases, with up to 30 million Americans living with a rare disease.
For a portion of rare diseases, symptoms may be observed at birth or in childhood, as is the case for proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia, or Rett syndrome. However, over 50% of rare diseases appear during adulthood, including Huntington’s disease (HD), Crohn’s disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma, and thyroid cancer. Rare diseases are often progressive, posing additional challenges for the patients and their families.
There is still no cure for most rare diseases and few treatments are available. improving quality of life and extending life expectancy of people living with a rare disease relies on appropriate treatment and care.
Fortunately, since 72% of rare diseases are caused by genetic disorders, gene therapy brings hope to rare disease patients as a promising treatment option. As much as 70% of those genetic rare diseases start in childhood.1 Genetic changes that cause rare disease may either be inherited or occur spontaneously in the first individual diagnosed. With the development of a gene therapy for a rare disease, it can provide hope of a one-time treatment for numerous rare diseases that currently have no specific therapeutic options.
Developing a new therapy for a rare disease faces huge challenges, such as the difficulty to perform clinical trials with the small number of rare disease patients. For these clinical limitations, genetically engineered mouse or rat models plays an important role in rare disease research.
A genetically engineered disease model can display some or all the pathological processes that are observed in an actual human patient with rare disease. Developing and studying disease models can provide researchers key information on rare disease mechanisms and potential treatment approaches - supporting efficient drug development for rare diseases, from gene discovery, validation, to drug screening, safety and efficacy studies.
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