This month we have brought forward our interview to mark the World Day of Rare Diseases, which is celebrated today, 28 February. One of our Alumni members knows this field very well, since he heads the Kidney Disease Genetics and Biology Unit at the IDIS of Santiago and, since August, is the deputy head of molecular genetics at the Galician Public Foundation of Xenomia Medicine and Head of the Nephrology research team in the Xenomics Medicine group.

Miguel Angel, when were you at SEK-Atlántico and what years did you study?
I started in the year the school was founded, in 1989. I am happy and proud to belong to the first class to graduate from SEK-Atlántico, without a doubt the best class! I studied from 8th grade of EGB to COU.

What memories do you have of your time at SEK?
The best years of my childhood. At the beginning it was hard, I came from a small town (Portonovo) and from a humble family that had to make a great sacrifice to send me “to the best school in Pontevedra”. I left my friends to start in a class with a group of “strangers”. That lasted a short time, things soon got better, I not only made lifelong friends but I still feel great affection for the rest of my class. When we see each other, it seems like only yesterday that we shared class.

What did you go on to do when you finished your studies?
I graduated from the University of Navarra in Fundamental Biology and Biosanitary Science, where I coincided with SEK classmates. I received my PhD from the Johns Hopkins School of Medicine (Baltimore, USA) and the University of Santiago (2016), where I received the award for the best young American researcher in Nephrology (2017). After 7 years in the United States, I went on a second 3-year postdoctoral stay at the Pasteur Institute (Paris, France) where I won the prize of the European Molecular and Biology Organisation (EMBO-long Term Fellowship 2008). In 2010, after saying no to one of my dreams, which was to work at the Clínica de Navarra, I came to the Complexo Universitario Hospitalario de Santiago de Compostela to head the Nephrology research group that I currently lead (NefroCHUS). And since August of this year, in addition to leading the research group into kidney diseases, I am dedicated to the genetic diagnosis of hereditary diseases (renal, cardiac, paediatric diseases) with the Public Foundation Medicine Xenómica CHUS.

This month we want to talk about research, what led you to dedicate yourself to it?
Well, mainly three things. First and foremost the people who influenced me in my education. My uncle is a coroner, and at the age of 12, I asked him to please let me go with him to the autopsies. He awakened in me a passion for medicine. My biology professor at SEK, “Ludi”, with her passion for research, and her good advice in decisive moments. And mainly my family, who always supported me in doing what I was passionate about.
And lastly, my personality. I am a person who does not like to see people suffer, and from the moment I meet patients, my curiosity to know what causes certain diseases and to try to address their understanding and possible cure. And the harder it is, the more I persevere. That is why I am devoted to researching rare or ultra-rare diseases.

What has given you more and less satisfaction as a researcher?
What has given me most satisfaction has been helping patients. Either by providing a diagnosis for their disease, since in many cases they have not known for many years what they are suffering from, or simply giving them a glimpse of hope. A patient’s gratitude is the greatest reward for a scientist.
What is less satisfying is the lack of recognition received by researchers in society. Patients and citizens in general fully recognise our work, moreover, surveys say that we are the best valued professionals.
You are specialised in the genetic diagnosis of rare diseases, could you tell us about this type of research.
Approximately 7,000 diseases of this type have been described, meaning if they are treated individually, they are rare or infrequent, but when treated collectively they are the most prevalent group of diseases in the population. It is now, when we are entering a new era in the diagnosis of rare diseases. Now we can diagnose patients who have spent years without being able to identify the underlying pathology they had. This is thanks to the great advances made in diagnostic technologies. If before we shot at the genome with a submachine gun, now we do it with a cannon to identify the genes involved in this type of disease. The complex thing is to understand how mutations manifest, and that is where the research part comes in. In order to cure diseases, we must first understand the mechanisms that are altered in the mutations and look for possible drugs.