
Clinical Genetic Diagnosis, Prevention, and Gene Therapy Drug Development for Hereditary Eye Diseases
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About CHIGENOVO
CHIGENOVO Co., Ltd. was established in 2016 as a national high-tech enterprise specializing in genetic eye disease gene diagnosis and gene therapy drug development. It is committed to providing "one-stop" services for precise diagnosis and treatment for patients with hereditary eye diseases. CHIGENOVO has built a genetic eye disease database and large cohorts based on its diagnostic platform, summarizing the mutation spectrum of Chinese patients to provide therapeutic targets for drug development. On this basis, it develops drugs with independent intellectual property rights, including gene replacement therapy and gene editing therapy, striving to achieve a "from zero to one" breakthrough. The team currently has nearly 100 members and has established a complete drug development system, including target screening, basic research, animal experimental validation, stem cell validation, AAV virus research and production, clinical trial operations, and drug registration submissions.

Currently, there is7CHIGENOVO Co., Ltd.'s R&D pipeline for gene therapy of hereditary eye diseases focuses on hereditary conditions.OphthalmologyDisease-relatedGene TherapyField. Mainly develop two types of products: one typeIs Gene Replacement TherapyThe main strategy is to use rAAV viruses to deliver normal copies of the mutated gene into patients' retinal cells for gene expression supplementation, serving a therapeutic role. This treatment primarily targets genetic diseases caused by mutations leading to insufficient gene expression, such as autosomal recessive genetic disorders and X-linked recessive genetic diseases; another categoryYesGene Editing TherapyThe main strategy is to use rAAV viruses to deliver repair sequences capable of fixing gene mutation sites into patients' retinal cells, performing targeted repair of the mutation sites to restore normal gene function. This treatment primarily targets autosomal dominant genetic disorders.
AboutBCD
BCD is a special type of retinitis pigmentosa, with typical changes characterized by yellowish-white sparkling crystalline material deposited on the retina. Clinically, it manifests as progressive vision loss and narrowing of the visual field. Patients usually become blind around the age of 40, and currently, there is no effective treatment available. There are approximately 60,000 to 100,000 BCD patients in China, making it one of the significant causes of irreversible bilateral blindness in the working-age population and a key focus of blindness prevention and treatment efforts in the country. BCD is caused byCYP4V2Caused by gene mutations, inherited in an autosomal recessive manner. The gene mutations result in the loss of function of the encoded protein, making it suitable for gene replacement therapy.

Source: Qichacha