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Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

enrique velazquez

Dr. Enrique Velazquez (M.D., Ph.D., M.S., M.P.H), Post Doctoral Fellow, Rady Children’s Hospital San Diego

Enrique Velazquez is a Postdoctoral Scholar at CASRC Rady Children’s Hospital in San Diego and was driven to work in genomics because he wanted to discover potential therapies more easily, using genomic targets. He is focusing on Cognitive Genomics, working on individualising behavioural interventions based on predictive biomarkers using artificial intelligence. He is also improving healthcare informatics by integrating genomic data into electronic health records.

Velazquez recently published  a paper in the American Journal of transplantation based on Precision Medicine, Artificial Intelligence and molecular diagnostics to improve clinical outcomes, and will be speaking in the Panel ‘Best practices for large scale multiomic data intergration’ during the Festival of Genomics in June. To register for the Festival, click here!

What are you working on right now?

My research is focused on applying Precision Medicine techniques to Autism research. This research involves 2 main components. First, it integrates clinical and genomic data by using big database management systems and “big data” analytic techniques that run advanced simulations combining the information from a number of sources including clinical and genomic data that can often be pulled from Electronic Health Records (EHR). The second component involves using sequences gene expression technology to discover  genomic level biomarkers related to cognitive functioning, specifically executive functioning in individuals with ASD with the intention to use this data to individualize cognitive – behavioral interventions for people with Autism Spectrum Disorders (ASD) with my collegue and mentor Dr. Mary Baker-Ericzen at her Autism Research Lab at the Child and Adolescent Services Research Center at Rady Children’s Hospital, San Diego. This research is still under development and will examine associations between genes and neuropsychological functioning in teens and adults with Autism Spectrum Conditions.

What’s the biggest challenge you face in your work at the moment? 

Beyond getting enough funds to launch a full genomic cognitive behavioral research laboratory, I think translating this revolutionizing research to the community at large including researchers, patients, families and providers is the biggest challenge. It is imperative to describe the research using terminology and visuals explaining this cutting-edge research and technology that is digestible to a vast audience. The concepts of using Precision Medicine (i.e., individualizing cognitive behavioral interventions based on clinical and genomic data) is still in its infancy stage of research but could be a revolutionary option to treat people with Autism Spectrum Conditions and significantly increase their positive outcomes and quality of life.

Name one big development that you would like to see in your field the next 18 months.

A robust identification of gene expression profiles that change as result of cognitive behavioral interventions, such as the interventions developed for teens and adults with autism in Dr. Baker-Ericzén lab at Rady Children’s Hospital and that could also be used as an outcome measurement tool along with current gold standard behavioral based observation tools to assess outcomes at the individual level.

What are you most proud of in your career?

My contributions to the development of advanced Precision Medicine analytic techniques through my previous and current research using behavioral, clinical and genomic databases and artificial intelligence methodologies to discover molecular diagnostics in order to inform treatment and possibly improve clinical outcomes. During my PhD dissertation research, I had the opportunity to use the supercomputer resources at the Pittsburgh Supercomputer Center (PSC), Carnegie Mellon University – University of Pittsburgh, to manage 100 million electronic health records that combined clinical and genomic data and applied advanced database management systems. I identified the most suitable databases management systems for the growing big data coming mostly from clinical and genomic information; based on the evaluation of performance, scalability and updating processes in different data management systems, my research indicated that NoSQL Cassandra and Redis were the most suitable systems as they provide better query performance, scalability and flexibility in updating processes, qualities needed for the intense data filtration and schema modification required in the Precision Medicine field.  Also during my postdoctoral training at the functional genomics laboratory at The Scripps Research Institute (TSRI), I applied highly technical bioinformatics analyses, artificial intelligence/machine learning, using next-generation sequencing (NGS) and microarray data to study the regulation of cellular immunity in humans with specific relevance in order to further understand transplantation immunity and individualized immunosuppressive therapy in transplant patients (pharmacogenomics). This research revealed a number of shared differentially expressed genes and pathways in the alloimmune activation in kidney transplantation from people with clinical acute and subacute rejection. The discovery work done in this study confirmed a clear ability to predict clinical phenotypes based on gene expression profiles, disregarding the use of either blood or biopsies. In simple words it is like if we could predict the immune system reaction just by studying the expressed genes from a blood test. These findings also underscore the logistical potential to develop new molecular diagnostics to improve clinical outcomes based on Precision Medicine. Now as postdoctoral fellow at the Rady Children’s Hospital San Diego – Child and Adolescents Services Research Center (CASRC), I’m developing a genome sequencing lab with Dr. Baker-Ericzén to study which genes are associated with cognitive executive functioning skills and how the expression of these genes may be altered as a result of cognitive behavioral interventions. This clinical laboratory will allow for direct and immediate translation of the research findings to clinical care for patients with ASD. It is our intention to examine the interplay between genomic, cognitive and behavioral data and the impacts of interventions on each.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

I would invite Dr. James Dewey Watson who co-discovered the structure of DNA in 1953.   I would be curious to know how he has personally gained from his knowledge and discoveries, particularly how he has applied this secret of life (DNA) to his own life as he continues to look very healthy!  I also would like to gather his opinion about how the new generation of physicians that have the training to integrate knowledge related to Medicine, Molecular Genomics and Statistical & Computational Genomics, such as myself, can potentially contribute the most to improving the health care system and specifically the lives of individuals with major health and neurobehavioral health conditions.

What ideas are you most excited to explore when you speak at the San Diego Festival of Genomics in June?

Since the San Diego Festival of Genomics brings some of the brightest minds together regarding innovative genomic research, I would like to explore revolutionary  ideas for Precision Medicine such as the use of advanced technologies like supercomputer resources that can integrate millions of Electronic Health Records and the use of other free access and commercially available large database management systems to conduct “big data” analyses by merging clinical and genomic data to answer advanced research questions such as how genes can be used diagnostically or to predict which treatment to use with whom but also be used through gene expression techniques as outcome assessments of which treatments do work for whom. Answering these questions on both sides – before and after treatment- is the ultimate application of Precision Medicine.

What advice do you wish someone had given you at the start of your career? 

Always stay up to date about new, innovative technologies because they are potential game changers and can move quickly into commercial applications while still of extreme value to use within health services research.

If you are interested in registering for the Festival, click here!

 


Why not check out The Short Read archives? 

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Said Ismail
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Who would you like to see interviewed for The Short Read? Let us know via contact@frontlinegenomics.com


Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution