[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia].
Vitaly V KadyshevI V ZolnikovaO V KhalanskayaAnna A StepanovaSergey I KutsevPublished in: Vestnik oftalmologii (2022)
gene emphasize the need to change the diagnostic algorithm in the ophthalmic practice. The use of clinical instrumental and molecular genetic diagnostic methods makes it possible to apply etiotropic treatment to patients with a disabling disease that was previously considered untreatable. The gene replacement drug Voretigene neparvovec registered in Russia showed irrefutable first positive results in all targeted patients.
Keyphrases
- replacement therapy
- copy number
- genome wide
- end stage renal disease
- genome wide identification
- newly diagnosed
- primary care
- healthcare
- smoking cessation
- machine learning
- prognostic factors
- dna methylation
- deep learning
- diabetic retinopathy
- emergency department
- optical coherence tomography
- cancer therapy
- drug delivery
- genome wide analysis
- combination therapy
- drug induced
- optic nerve