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.
What is a Rare Disease?
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.
Gene Therapy for Rare Diseases
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.
Advanced Gene Therapy Approaches with Genetically Engineered Mouse & Rat Models
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.
Rare Disease Model Collaboration Program
Rare disease researchers are invited to join Cyagen’s Rare Disease Model Collaboration Program and help inform the development of precise animal models for rare disease studies. With this program, we aim to build a community of rare disease researchers with ideas for the next generation of animal models needed to advance their field of study. If you have any plans, strategies, or recommendations on rare disease model development.
>> Join Cyagen Rare Disease Model Program
We are committed to enabling development of therapeutics for rare diseases by developing accessible animal models to study disease mechanisms, target validation, drug screening and more. Additional articles covering the research related to genetic rare diseases will be released in the coming weeks, covering gene therapy, case studies, and more. Please contact us for a chance to have your rare disease research featured.
Reference:
- https://www.nature.com/articles/s41431-019-0508-0
