AAP Workshop: Gene Therapy for Inherited Retinal Diseases- Answers for Common Question?
Daniel J. Karr; Arlene Drack; Arif O. Khan; Alex V. Levin; Hannah Scanga; Elias Traboulsi
AMERICAN ACADEMY OF PEDIATRICS (AAP)
Purpose/Relevance: Retinal gene therapy trials are becoming increasingly available. The purpose of the workshop is to discuss the most commonly asked questions about gene therapy for inherited retinal diseases.
Target Audience: Pediatric ophthalmologists, researchers, ophthalmic technicians and orthoptists
Current Practice: Currently while there is much information on the internet about various gene therapies, many pediatric ophthalmologists have not been trained in ocular genetics , so trying to advise parents and patients can be very difficult.
Best Practice: Ideally, all patients with an inherited retinal disease would have a phenotypic evaluation, leading to a specific or focused genotypic investigation. With this molecular diagnosis, practitioners could check the gene therapy trials /availability for that specific molecular diagnosis, counsel or arrange counseling and offer this to their patients.
Expected Outcomes: This workshop will introduce phenotype/genotype correlation, discuss the salient points of genetic counseling, the natural history of the diseases described, the ethics and moral dilemmas of revealing to children and their parents potential blinding conditions and finally discuss the gene therapy trials available and the results of those that have been done
Format: There will be five , 15 minute talks by experts in the field of ocular genetics , using advanced graphics in terms of diagnosis and treatment.
Summary: The workshop discusses the importance of phenotype-genotype correlation to aid diagnosis, which helps define likely natural history of the condition.
Counseling and ethical dilemmas are discussed with respect to potential blinding eye conditions’ diagnosis in the pediatric population.
Availability and success of gene therapy trails for inherited retinal diseases are discussed.
References: Garoon,RB;Stout JT. Update on ocular gene therapy and advances in treatment of inherited retinal diseases and exudative macular degeneration. 268-73;27(3) 2016 Curr Opin Ophthalmol