Understanding Retinitis Pigmentosa and Gene Therapy

What condition was Sam diagnosed with during his eye check-up?

• Myopia

• Retinitis Pigmentosa

• Cataract

• Glaucoma

What is the role of photoreceptors in the human eye?

• To produce tears

• To absorb light and convert it to electrical signals

• To protect the eye from debris

• To adjust the eye's focus

What does RP stand for?

• Rapid Photoreception

• Receptor Phototropism

• Retinal Pigmentation

• Retinitis Pigmentosa

What was Dr. Stone's initial approach to identifying the gene causing Sam's RP?

• Blood transfusion

• Gene therapy

• Physical examination

• Scanning for common mutations

Why was it difficult to find the mutation in Sam's genes initially?

• The mutation was rare or unknown

• The mutation was common

• The technology was outdated

• There were too many mutations

What was unique about Sam's mutation related to RP?

• It caused an increase in tRNA function

• It was in a non-coding region

• It was in a gene essential for tRNA function

• It affected a structural protein

What is the function of tRNA in cells?

• To help in protein synthesis

• To digest fats

• To produce hormones

• To transmit nerve signals

How did Dr. Stone confirm the link between the mutation and RP?

• By altering the gene in human cells

• By curing RP in another patient

• By finding the mutation in many other patients

• By using a model organism to mimic the mutation

What is the primary goal of the gene therapy being developed for Sam?

• To restore all lost vision

• To improve physical health

• To prevent further vision loss

• To enhance cognitive function

What evidence did Dr. Stone seek to strengthen the hypothesis about Sam's unique mutation?

• A larger sample of zebrafish

• Approval from medical authorities

• Genetic data from thousands of other patients

• Clinical trials in humans