Genetica Medica by Lynn B. Jorde PhD, John C. Carey MD MPH, Michael J. Bamshad
By Lynn B. Jorde PhD, John C. Carey MD MPH, Michael J. Bamshad MD
Translation of scientific Genetics, 3e
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Additional info for Genetica Medica
The term severe was used in the original descriptions of this disease because most children had a severe clinical disease and died before their second birthday. However, by the time DeSilva was treated, diagnosis and improved treatments (other than gene therapy) meant that most children lived much longer. Today, the term severe refers more to the lifestyle that SCID patients have to endure, rather than an early death. The particular form of SCID that DeSilva and patient 2 suffered from was due to a deficiency in an enzyme called adenosine deaminase (ADA).
The Virus as a Gene Vehicle Given their talents for entering cells, viruses would appear to be ideal candidates for gene delivery vehicles or vectors. But there are two major Viruses 29 problems to overcome before they can be used safely: First, the ability of the virus to replicate its own genome must be blocked, along with the production of viral mRNA that codes for proteins that maintain the infection and help the virus escape from the cell. Second, the therapeutic gene has to be inserted into the viral genome in such a way that it will not inhibit the formation of a normal capsid, since this is the part of the virus that is essential for cell entry.
The format for preclinical research is informal; it is conducted in a variety of research labs around the world, with the results being published in scientific journals. Formal approval from a governmental regulatory body is not required. PHASE I CLINICAL TRIAL Pending the outcome of the preclinical research, investigators may apply for permission to try the experiments on human subjects. Applications in the United States are made to the Food and Drug Administration (FDA), the National Institutes of Health (NIH), and the Recombinant DNA Advisory Committee (RAC).