Articles tagged with: Human Molecular Genetics
Meet the Genomic Pioneers »
Name: Carlos De Brasi
My Area of Interest: Human Molecular Genetics
My Favourite Quote: Look at the experiment’s results with your mind open
I am a: Senior Scientist at the National Academy of Medicine of Buenos Aires
Short Profile:
Question and Answer Session:
What are your future goals? Where do you see your research going?:
I am particularly interested in the molecular evolution of X-chromosome linked duplicons (with emphasis on large inverted repeats).
Another important issue is the study of polymorphic structural variants in the Human Genome (in particular large DNA inversions).
Technologies seem to changing faster than ever, how do you adapt to that? What are the current technologies you are using?:
I am not an expert in new technologies. I use the classics, automated DNA sequencing, mutation screening by conformation sensitive gel electrophoresis, Real time PCR, etc. In my country the resources are limited and I have not a fair access to state of the art techniques like Microarray technology, CGH or next generation DNA sequencing.
However, I keep on reading new methods in this fascinating area of research.
In the broader picture, where do you see the application for your cutting-edge research?:
My dream is that my technique of inverse shifting-PCR would be applicable to detect large structural variants (i.e., large DNA inversions) in the Human Genome in a high throughput approach using a robotic device.
Fast forward to 2020. What’s your vision of Genomics in 2020?:
I think that on 2020 all genetic variants of an individual can be determined in a surprisingly short period of time (e.g., one or two days).
I wish this amazing accomplishment of the human being reach every human beings wordwide.


