Titelblatt themenbote Medizin zu Seltenen Erkrankungen

"There is a lack of role models and research funding"

In an interview with 'themenbote medizin', Sanna Börgel, Managing Director of Alliance4Rare gGmbH, introduces the initiative of the Eva Luise and Horst Köhler Foundation and explains how the civil society alliance intends to launch a visionary care and research network for rare diseases and thus advance the development of modern therapeutic approaches.

Mrs. Börgel, what exactly is the Alliance4Rare?

The Alliance4Rare is an alliance of non-profit foundations, donors and scientists. For the first time, it links research-intensive institutions in pediatric and adolescent medicine along a research strategy for rare diseases that has been agreed upon across all locations. This is new in this country and is intended to bring together the most urgent medical needs with promising therapeutic approaches as quickly as possible. The Alliance4Rare considers itself a bridge builder between the growing possibilities of modern medicine and the immense need for research on rare diseases.

How did the Alliance4Rare come to be founded?

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. The great need for research is obvious. In the meantime, completely new treatment options have emerged thanks to modern precision medicine. Now we need consistent investment in pediatric research.

Who is supporting the initiative?

The Alliance4Rare will raise the necessary funds through donations and funding partnerships. We are very grateful that Friede Springer gGmbH is very generously supporting the launch of our research network. But we need more supporters so that the research network can grow from currently three locations nationwide.

Which gap does the research network close?

The Alliance focuses on rare diseases that manifest themselves very early and develop particularly severely. Through targeted support measures, we want to encourage pediatricians to deal with these diseases in science and care on a permanent basis. So we are trying to do more than fill one gap. Ultimately, the aim is to ensure that seriously ill children can participate in medical progress.

How do you intend to proceed?

It was obvious to us that we need to move away from "watering cans" and towards structures that allow sustainable networking of pediatric sites with strong research capabilities. That is why we are installing "Clinician Scientist for Rare" programs. These offer targeted mentoring and protected research time in which participants can intensively work on rare diseases.

Why are these measures needed?

In order to bring new scientific findings quickly into application despite low case numbers, research and patient care must move closer together. Children with rare diseases need pediatricians who do not shy away from the balancing act between laboratory and bedside. Only they are trained to conduct studies with children. They enjoy the trust of the families and, thanks to their clinical experience, are in a position to raise the relevant questions and identify new correlations. Unfortunately, the number of scientific publications in the field of pediatrics has been declining for years.

What is the reason for this?

Pediatric research has a junior researcher problem that is due to several factors: lack of role models, lack of backing, and lack of research funding. It is increasingly difficult for young scientists to balance research activities with the highly compressed clinical routine. Many give up at some point and decide to settle down, which promises a better work-life balance. And those who actually want to make a career in research often turn to another field sooner or later. Significantly better-paid research areas include cardiovascular diseases, dementia and cancer.

What are the research priorities of the Alliance4Rare?

The scientific focus is on projects that are urgent for the survival as well as the quality of life of the patients and have a high innovation potential. The projects can be assigned to four program lines: Prevent, Rare2Common, Innocure, Cope&Hope.

Prevent refers to research into the early detection and secondary prevention of rare diseases. Rare2Common aims to research rare diseases with regard to their - often underestimated - importance for common diseases. Innocure is concerned with the targeted development of innovative therapies for rare diseases within the framework of proof-of-concept studies with small case numbers. And Cope&Hope is dedicated to care research on supportive interventions for unexplained diseases without treatment options. The first program call is currently underway. We are very excited to see which applications will be submitted.

You are also working with the Berlin Institute of Health (BIH). What is that all about?

We cooperate with the BIH in the management of tenders and the implementation of the summer schools. Above all, however, in the diagnosis of patients who have not yet been diagnosed with any certainty. For these particularly challenging cases of our site partners, BIH offers a new structured approach to molecular and clinical in-depth analysis with the method platform CADS.

What is the role of ACHSE in the Alliance4Rare?

ACHSE e. V. was already closely involved in the conception phase and continuously contributes the patient perspective, which is always important to us, to all decision-making processes.

Is the Alliance4Rare also internationally connected?

Not yet, that will come. International research partners can be integrated into the research network as of now within the framework of project collaboration. We are planning organic growth.

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