Page 142 - Genomic Medicine in Emerging Economies

CHAPTER 7

Experience in the Development of

Genomics Companies During the Last

20 Years in Argentina

Viviana Ada Bernath*, Mariana Herrera Piñero**
*Laboratorio Genda sa, Buenos Aires, Argentina **Banco Nacional de Datos Genéticos,
Buenos Aires, Argentina

A couple of months ago we received a call from the city of Ushuaia. It was
Camila telling us that her sister Mariela, 33, had suddenly died. Mariela was
the mother of a 3-month-old baby girl and a 4-year-old boy. The whole fam-
ily was looking for an explanation of her unexpected death. In particular, the
two children’s father was really worried about the possibility that the children
would have inherited some illness from their mother. To carry out the genetic
testing, we needed a sample of Mariela’s blood. Fortunately for everyone, we
were able to obtain the sample, and the results were ready a month later. We
1
2
found a mutation in Mariela’s DNA compatible with an arrhythmia associ-
ated with many cases of sudden death in postpartum women. The question
was: How do we continue? Should we study the children or not? The fam-
ily asked us to do so, and we detected that both children had inherited their
mother’s mutation. However, the good news was that having such informa-
tion so early could help them to care for themselves and prevent a sudden
arrhythmia death in the future. In fact, cardiologists are already considering the
possibility of implanting automatic defibrillators and prescribing beta-blocker
treatments. In conclusion, if these kids follow the medical recommendations,
they and their family will be able to live without worry.

Thinking about solving cases like Mariela’s 15, 10, or even 5 years ago would
have been a matter of “science fiction.” However, today, as never before, genom-
ics have opened up a world of solutions that is changing the lives of millions
of people.

1 A sudden departure from the parent type in one or more heritable characteristics, caused by
a change in a gene or a chromosome.
2 Deoxyribonucleic acid, an extremely long macromolecule that is the main component of
chromosomes and is the material that transfers genetic characteristics in all life forms. 131
Genomic Medicine in Emerging Economies. http://dx.doi.org/10.1016/B978-0-12-811531-2.00007-2
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