Research and medical care are inseparable for rare diseases

In an interview with Themenbote Medizin, Professor Dr. Annette Grüters-Kieslich, Chairwoman of the Foundation's Board of Directors, introduces the Alliance4Rare research initiative. She explains what the alliance is all about, where its focus lies and how researching pediatricians are specifically supported.

Portrait Prof. Dr. Annette Grüters-Kieslich
Prof. Dr. Grüters-Kieslich

Prof. Grüters-Kieslich, what is the mission of the Alliance4Rare?

The Alliance4Rare unites people and institutions who want to help bring together the growing opportunities of precision medicine and the immense need for research on rare diseases. Civil society, medicine and research must work hand in hand and synergistically to bring together the most urgent medical needs of children with rare diseases with promising therapeutic approaches as quickly as possible.

How did this research initiative come to be?

The initiative came from the Eva Luise and Horst Köhler Foundation. Mrs. Köhler has been committed to the "orphans of medicine" for almost twenty years. She knows their plight, and the great need for research is obvious. Rare diseases affect children and adolescents in eight out of ten cases, and many will die early or be disabled for life due to a lack of effective treatment options. It was clear to us that participation in medical progress for these people must not be left to chance. That's why we need more collaboration and targeted investment in pediatric research on rare diseases now.

Who is a member of Alliance4Rare and what are the research priorities?

The research network currently comprises the three major university children's hospitals in Berlin, Göttingen and Dresden as well as the Berlin Institute of Health (BIH). By adding further site and funding partners, it is to be anchored nationwide in the coming years. The necessary funds will be raised through donations and funding partnerships. We are grateful that Friede Springer gGmbH is very generously supporting the launch of Alliance4Rare. But of course, further support is needed for the sustainable growth of the initiative.

The scientific focus is on projects that are urgent for the survival as well as the quality of life of patients and have a high innovation potential. Promising applications were submitted in our first call for projects. In these days, the Scientific Advisory Board and the Steering Group of Alliance4Rare will decide on the funding.

Among other things, Alliance4Rare is investing in a so-called Clinician Scientist program. Can you explain what that is?

Research and care are inseparable for rare diseases. Despite the low number of cases, scientific findings must reach the patients quickly. This requires physicians who are committed to the balancing act between the bedside and the laboratory. However, this is becoming increasingly difficult in the compressed daily routine of hospitals.

In order to provide targeted support for pediatricians conducting research, the Alliance4Rare relies on structured Clinician Scientist Programs (CS4RARE). These programs provide participants with protected research periods in which they can advance their scientific projects. Summer schools and a mentoring program ensure knowledge transfer and cross-location networking even beyond the funding phase.

What are the research priorities of the first participants in this program?

At Dresden University Hospital, a pediatric immunologist is conducting research on autoinflammatory diseases. By identifying new biomarkers, she is working to improve both the prediction of disease episodes and the targeting of therapies.

In Berlin, a young human geneticist is working on hereditary connective tissue diseases. His special focus is on familial cluster diseases of the aorta. The aim is to use genome and transcriptome analyses to find new mutations that have so far not been detected by conventional diagnostics. In the best case, this will end the diagnostic odyssey for many patients.

At the University of Göttingen, our third fellow is researching a group of rare diseases caused by mutations in the ATP1A3 gene. The causes of these neurological disorders are largely unexplained. Our Clinician Scientist wants to help identify the pathomechanisms and establish the world's first drug screening to find new therapeutic approaches.

So the three are doing research in very different fields, but with the same goal: to pave the way to a healthier future for the "orphans of medicine."

Another research program of Alliance4Rare is the platform for deep diagnostics, CADS. How did the idea for CADS come about and what does it involve exactly?

Patients with rare diseases wait an average of six long years - in some cases even decades - for a confirmed diagnosis. However, this is enormously important, even if no therapies exist yet. For many, naming the condition helps them to accept their situation and gives them a certain orientation for the way ahead. The diagnosis is also crucial for the treating physicians, because as long as a disease is not recognized, no targeted therapy can be found.

The CADS research project complements the diagnostic capabilities available at all Alliance4Rare partner hospitals. For the first time, a structured approach for molecular and clinical in-depth analysis is available for patients who have not yet been diagnosed. Based on these research results, national and international experts discuss case-based new approaches for diagnosis and therapy. Once again, the close collaboration between research and medical care that characterizes the work of the Alliance4Rare is expressed here: Creating the future together.

More information: www.alliance4rare.de

Magazine Themenbote Medizin February 2023

Foto: David Ausserhofer
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