"All the researchers on the team know that families and patients are a key part of our research, and we need to be able to pass on what we do."

Dra. Judith Armstrong joined the family of St. John of God in 1999 and returned in 2008; and recently created her group "Genomics for the diagnosis of rare diseases” within the IRSJD. Through this interview, we will find out what her career has been and what goals she has set for her group.

How did you get started in the world of minority disease research?

From the beginning of my academic career, I was involved in one way or another in the world of minority diseases. I graduated in Biology at the University of Barcelona and my master's project was already related to a minority disease. In that case, it was fragile X syndrome. This first contact I had in Denmark in a Diagnostic Center, an experience that allowed me to know the most advanced technology in genetic and molecular diagnosis; Until then, this technology was not yet very widespread in our country.

When I finished my master's degree, the opportunity arose for me to do my doctoral thesis in Rett syndrome at the SJD Barcelona Children’s Hospital, under the direction of Dr. Mercè Pineda and Dra. Monrós.  This disease has accompanied me throughout my scientific career. When I started studying Rett syndrome it was not yet known which gene was the cause of the disease, today we have a lot of information about the disease.

What has been your relationship with Rett Syndrome?

As I mentioned, my doctoral dissertation was on Rett Syndrome and since that day I have spent much of my career understanding and delving deeper into this disease. Before I arrived, Dr. Mercè Pineda had done a great deal of clinical work with all the patients who had arrived at the SJD Barcelona Children’s Hospital. When I joined to do my thesis, Dra. Pineda allowed me to establish very close contact with families and patients, mainly girls. This relationship I created with the disease is what got me involved in a special and different way.

From that first contact until today, I try to understand what is happening at the genetic and molecular level in each of the patients, so that later a better therapeutic approach can be made.

What has changed in the world of genetics and specifically of minority diseases over the last few years?

The biggest change has been in terms of technological development. All the new technologies have made it possible to make an exponential leap in the study of minority diseases. By the time I started my career the human genome had not yet been decoded; now, thanks to all these technologies, we have been able to discover new mutations, new diagnostic techniques, etc. which have made it possible to advance much in the knowledge of diseases.

Could you give us an example?

A clear example is the work on Rett syndrome. When we started studying it, the causative gene was not known, but we had a very comprehensive collection of patients. All the patients presented the same clinic and we knew they did not have another disease. As technology progressed, we were able to detect different mutations in different genes. This is very enriching, because you are part of this development. You start thinking that these girls have a mutation in one particular gene, the same gene in all of them, but as you apply the new techniques you will see that there are multiple mutations and genes involved. And you see how all these genes form a functional network that makes all these girls have a common phenotype.

All this long journey in minority diseases is now consolidated with the recent creation of your group at the IRSJD, what can you tell us about this?

The "Genomics for the Diagnosis of Rare Diseases" group is a group of women, trained biologists with expertise in the field of genetics; as Dr. Delia Yubero with whom we both share a career in molecular genetics in minority diseases. Through the knowledge of all the members of the group, we seek to create new technologies and strategies to better diagnose and diagnose more patients. And how do we do that? Technologically implementing molecular diagnosis, integrating different elements of mass sequencing (NGS) in the diagnosis of minority diseases, applying data processing and Big Data, among other technologies.

What goals does the group pursue?

The main objective of the group is to look for a technological improvement that allows to perfect the diagnosis of the diseases. We want to delve into new technologies and apply multomic techniques for different genes, proteins, metabolites, etc. involved in diseases, especially in minority diseases.

One of the other goals is to create a common protocol that allows us to apply it to different diseases and thus be able to have a better prognosis, a more personalized pharmacological approach or a change in treatment. And also allow pathologies such as minority diseases, where a high degree of expertise is required, to have the most complete diagnosis possible. Also, to still be able to detect what is happening in each of the patients.

What projects do you have in mind to achieve these goals?

We are currently working on two major projects, one led by Dra. Delia Yubero and the other by myself. The project of Dra. Yubero is a project that has received funding from La Marató on the processing of omic data from NGS, for the benefit of all minority diseases, and to strengthen inter-hospital networks to enrich the interpretation of genomic data and improve the diagnostic process. . . The other project, led by myself, is about Rett syndrome and the idea is to find a molecular and functional footprint in these patients with the disease. To study how different mutated genes are interacting with each other in patients with a very similar clinic.

What would you highlight about the women in your group?

Above all, I would like to highlight the great motivation of all the members of the team, despite the challenges that we as researchers must overcome, especially the underfunding of science. However, each of them has a very high level of involvement and commitment within the project. And that's because they can interact with families and patients. I always try to get them out of the four walls of the lab and talk to the families, tell them what the group's latest findings are, listen to them, and so on. I think that this contact allows you to maintain that extra motivation and establish a network of collaborators, who at a given time can help you recruit patients, seek funding, collect data, and so on.

All the researchers who are part of the team know that families are a key part of our research and that we must be able to convey all our results in plain language, we must make this effort to disseminate what we know and what we are doing.

How does your research group relate to the day-to-day running of SJD Barcelona Children’s Hospital?

We have a very close relationship with the medical professionals at the hospital. On the one hand, we work at the diagnostic level, that is, we put a label on the syndrome presented by a patient, and from there we can analyze how the gene or gene interacts to give a certain symptomatology. Thanks to this information, medical professionals can offer genetic counseling to families, report on their prognosis, look for the best therapeutic strategy, and so on. And on the other hand, we also go to consultations, whenever the family asks for it, to explain the latest results of our projects or the genetic basis of the disease, especially in the case of Rett.