Isidro Arévalo Vargas is a postdoctoral researcher at the Spanish Foundation for the Study and Therapy of Gaucher Disease and Other Lysosomal Disorders. There, he combines genomic data and metabolite profiling to develop accessible screening tools for rare genetic conditions. In this Postdoc Portrait interview, he shares the importance of his work and what he hopes his research will accomplish.
Advancing Multiomics for Rare Disorders
Q | What scientific problem are you trying to solve?
Imagine living with a disease that already has a treatment but not finding out you have it until years after irreversible damage has occurred. Unfortunately, this is the reality for many people living with rare genetic diseases.
My research focuses on finding better ways to identify these conditions as early as possible, ideally before symptoms even begin. I combine different sources of biological information—from DNA to small molecules found in a simple dried blood spot—to help distinguish healthy individuals from those who may need further medical evaluation.
Early diagnosis can completely change the course of a person's life. For many rare diseases, starting treatment sooner means preventing complications rather than simply managing them after they appear. My goal is to help develop practical tools that make early diagnosis more accurate and accessible, so that more patients receive the right care at the right time.
Q | What drew you to rare disease research?
What first attracted me to rare disease research was the realization that science can have an immediate impact on people's lives. During my training, I learned that many families spend years searching for an explanation for symptoms that no one can fully understand. This "diagnostic odyssey" often delays treatment and adds uncertainty during an already difficult time.
I became interested in helping shorten that journey. I enjoy working where laboratory research meets clinical care, translating scientific discoveries into tools that physicians can actually use. Every improvement in diagnosis has the potential to provide answers earlier, guide treatment decisions, and give families greater clarity about the future.
Rare diseases also remind us that studying uncommon conditions can reveal fundamental insights into human biology. That combination of scientific curiosity and meaningful clinical impact is what continues to motivate my work every day.
Q | What’s one thing you learned from your research that you didn’t expect?
One lesson that surprised me is that having more data does not automatically make diagnosis easier. Modern technologies can generate an incredible amount of biological information but interpreting what it all means is often the greatest challenge.
I also learned that no single test provides all the answers. The strongest conclusions come from combining different pieces of evidence, including laboratory results, genetic information, clinical observations, and the expertise of professionals from different disciplines.
Perhaps the most unexpected lesson has been how collaborative rare disease research truly is. Progress depends on clinicians, laboratory scientists, bioinformaticians, patient organizations, and families working toward the same goal. It has shown me that solving complex medical problems is rarely about one breakthrough or one person—it is about building knowledge together.
Q | If your research succeeds, what could it change for science or society?
I hope our work helps make early diagnosis the rule rather than the exception for people with rare diseases. Receiving a diagnosis before symptoms become severe can open the door to earlier treatment, better long-term health, and greater peace of mind for families. More broadly, the strategies we develop for combining different types of biological information could also improve how other genetic diseases are diagnosed. My hope is that advances made in rare disease research will contribute to more personalized and precise healthcare for many conditions, not just the ones I study.
Q | What question are you most excited to answer next?
I'm most excited to understand how different types of biological information can be combined to make diagnoses more accurate. As medicine becomes increasingly data-driven, one of the biggest challenges is turning complex laboratory results into clear, reliable answers for patients and physicians. If we can improve that process, we will not only diagnose rare diseases earlier but also move closer to truly personalized medicine, where treatment decisions are guided by the unique biology of each individual.
Responses have been edited for length and clarity.
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