Human Heredity 9th Edition by Michael Cummings

Exercise 1

A genetic counselor was called to the pediatric ward of the hospital for a consultation. Her patient, an 8-year-old boy, was having a "temper tantrum" and was biting his own fingers and toes. The nurse called after she noticed that he was a patient of a clinical geneticist at another institution. The counselor reviewed the boy's chart and noted a history of growth retardation and self-mutilation since age 3. His movements were very "jerky," and he was banging his head against the bedpost. The nurses were having a very difficult time controlling him. The counselor immediately recognized these symptoms as part of a genetic disorder known as Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome is an X-linked recessive condition (Xq26) caused by mutation in the hypoxanthine phosphoribosyltransferase gene, and it affects about 1 in 100,000 males. Symptoms usually begin between the ages of 3 and 6 months. Prenatal testing is avail-able, but there is no treatment for Lesch-Nyhan, and most affected individuals die by the second decade of life.
If your child had Lesch-Nyhan syndrome and you heard about an experimental gene therapy technique that had shown some promise in treating the disease but also had significant associated risks, would you attempt to enroll your child in a clinical trial of the technique? Explain.