Applied Human Genetics
Question1
A child is suspected of having Angelman syndrome. Genetic analysis reveals that she has two wild-type copies of the UBE3A gene.
Discuss and evaluate the genetic mechanisms that might lead to her condition and the molecular tests that would be carried out to determine the cause in her case.
Question 2
Spinal Muscular Atrophy (SMA) is a rare and invalidating monogenic disease with an incidence of 1 in 10,000 births and a low life expectancy. In March 2021, the NHS approved the use of an in vivo gene replacement therapy treatment for babies diagnosed with SMA up to two years of age, making it available for clinical use. This treatment is administered as a single intravenous injection and does not require any additional dose in the life of the patient, raising hope for a more widespread treatment of this condition in the coming future.
Critically discuss the applications of gene therapy in the treatment of SMA and the results obtained in clinical trials, including the advantages and disadvantages of in vivo gene therapy administration
