Page 145 - Genomic Medicine in Emerging Economies

134 CHAPTER 7: Experience in the Development of Genomics Companies

THE POLYMERASE CHAIN REACTION TECHNIQUE

4
In 1984 the polymerase chain reaction (PCR or DNA copier) technique dis-
covery ushered in a technological leap in molecular biology, with unimaginable
consequences, as it allowed the obtaining of millions of DNA copies from a
sample fragment (Saiki et al., 1985). Extraction of large quantities of blood was
no longer necessary, since this “biological copier” could amplify the genetic
material even from minimal samples. In addition, this biological material was
no longer confined to a blood sample. Samples could also be taken from oral
swabs, bone remains, urine, nails, hair, etc. This was one of the great advances
that brought molecular genetics to the service of disease diagnosis and forensic
genetics.
“Thus, in a very artisanal way and through the PCR technique use, the
molecular genetics allowed us to start identifying the first mutations causing
genetic diseases, such as cystic fibrosis or Duchenne’s disease, some
5
polymorphisms associated with coagulation factors, hemochromatosis , and
associated microdeletions 6
These methodologies were limited only to the search for the most frequent
mutations present in these genes. Manual sequencing methods (reading of
DNA sequence) were used, which were confined only to research laboratories.
Thus molecular genetic tools began to be applied especially in the infectious
disease field to diagnose patients with hepatitis C, hepatitis B, HIV, and some
types of leukemia (Yang and Rothman, 2004).
Finally, in the early 1990s the first generation of Argentinian molecular biolo-
gists emerges, a group which we are part of.
Although the scientific-technological system was undergoing a recovery pro-
cess, economic policies did not collaborate with subsidies to research, nor were
researchers’ salaries globally competitive. Thus many of our colleagues who
had recently completed their studies or postgraduate work decided to emigrate
again. At that time, in the field of research and development in human genetics,
the first laboratories of molecular genetics applied to health service within pub-
lic hospitals were created, where different hospital units began to create genetic
diagnostic services, mainly directed at high-frequency pathologies in specialized
services. Thus we can highlight the Pediatric Hospital Juan P. Garrahan where

4 PCR, a technique for rapidly producing many copies of a fragment of DNA for diagnostic or
research purposes.
5 A rare metabolic disorder characterized by bronzed skin, cirrhosis, and severe diabetes,
caused by the deposit in tissue, especially of the liver and pancreas, of hemosiderin and other
pigments containing iron.
6 Mutations created by deletion of very little fragments of DNA in the genome.