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What is your name, institution, field of study?
I am Carlos Álvarez and I currently work at the Venezuelan Institute for Scientific Research (IVIC). Specifically, I work at its Human Genetics Laboratory (HGL) where I perform genetic screening for rare hereditary diseases and establish the geographical distribution of such diseases across the country.
Why did you choose to join a research lab and what has the research, benchwork, or specific techniques taught you about a career in science?
Ever since I was little I’ve leaned toward research and science in general (I was a very curious boy!). I believe that only through questioning our world and understanding how its processes operate, can we make it a better place to live. This was the main reason I decided to join a Research Lab; I wanted to make a difference through my research.
Through my years of research, both undergraduate and professional, I’ve come to realize that, while this is not an easy path to follow, the reward at the end is worth it. No matter how small you think the results of your research are, these discoveries become a piece of a much larger “whole”, contributing to our collective progress.
What have you learned from working in a lab and how has your role contributed to the field of research?
I have learned that ultimately, research in a laboratory is a teamwork task; it is only through a combination of cooperation and feedback from one researcher to another that the process of obtaining results is optimized.
As stated before, through our research at IVIC HGL we do not only provide diagnosis of rare genetic conditions, such as Ataxia, Cystic Fibrosis, and Wilson disease, but we also establish the geographical focus of these diseases in the country. Due to their hereditary nature, it is important to pinpoint their distribution. This is because the populations on these foci have an increased risk of manifesting individuals with these conditions. This helps to anticipate the appearance of new cases and give adequate counseling and in some cases treatment.
When it comes to undergraduate research, my work at Universidad Simón Bolívar Human Genetics Laboratory, under the supervision of Carolina Pestana, Ph.D. and Antonietta Porco, Ph.D., assessed variants related to early-onset Cardiovascular Diseases and Cellular Ageing. Our lab’s research has contributed to a better understanding of these metabolic processes.
What are your career goals and how has your research experience helped with this?
My goal has always been to improve the diagnosis and treatment of both chronic and hereditary diseases. Of these two, due to its complexity and lack of information regarding possible treatments, the hereditary diseases, which have strong genetic components, tend to be an outcast. Therefore most patients suffering from these illnesses have few to no options when it comes to counseling and advising. I’d like to change that.
Through my years of laboratory work, I’ve been trained in the latest techniques to identify possible factors that can affect the onset of these diseases. I always try to keep myself up-to-date on the subject of new therapies, bioinformatic approaches, and molecular mechanisms. All of these come in handy and can make a big difference when it comes to patient care.
What is the most exciting aspect of the lab you are in? What is the future application of this? What is something that a non-scientist would find interesting/should know about?
IVIC HGL is a high input laboratory when it comes to patient volume. We get patients from all around the country. This leads to us meeting an incredibly diverse set of people, from all backgrounds, every one of them with their own story and requirements. This makes working at HGL a fresh experience with every new day.
Scientifically speaking, due to this high input of data, we have managed to effectively pinpoint many geographical foci of genetic diseases. This helped us develop a vigilance system in these areas where we can now give genetic counseling to families in which these hereditary components exist.
An example of this, which I believe everyone will find interesting, is Huntington Disease. The villages circling Lake Maracaibo in Venezuela have the highest concentration of this disease in the world. Therefore this population has an extremely high probability of having descendants with this condition. IVIC HGL gives these families genetic counseling and advice for family planning.
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