Rare Diseases Research
Probing the intersection between rare diseases and genetic interventions
Rare diseases, which affect around 300 million people worldwide and are frequently the result of a single nucleotide variation in the gene sequence, offer a unique opportunity for exploring new modalities and molecular insights through research and regulatory pathways.
New therapies like gene and targeted ASO therapy offer a potential cure for rare genetic diseases by introducing functional genes or RNA molecules into patient cells. This is particularly promising for unmet needs and creates opportunities for developing and testing new treatments that benefit a wider population
Challenges in Rare Diseases Management
Precision medicine for Rare Diseases
Most rare diseases have a genetic basis, which makes them particularly amenable to novel approaches such as gene therapies, ASO therapies, and RNA therapeutics. They have the potential to offer targeted, personalized treatments for rare diseases. Methods to optimize vectors for gene therapy involve refining their ability to reach specific tissues or cells, utilizing computational techniques to quickly and efficiently optimize vector designs, and ensuring that vectors are safe for human use.