05.09.2022
Porträtfoto Dr. Felix Boschann
CS4RARE: CLINICIAN SCIENTISTS IN PORTRAIT

Dr. Felix Boschann, Charité Universitätsmedizin

Rare diseases affect children and adolescents in eight out of ten cases. Their participation in medical progress therefore depends crucially on committed pediatricians who are dedicated to the balancing act between bedside and laboratory. In order to prepare pediatric researchers for this demanding task and to provide them with the necessary freedom for scientific work at a high level, the research network Alliance4Rare initiated by the Eva Luise and Horst Köhler Foundation focuses among other things on structured Clinician Scientist Programs (CS4RARE). These programs provide participants with protected research time in which they can advance scientific projects on rare diseases without having to perform clinical tasks.

Some of the fellows who have recently started their work will introduce themselves and their projects.

Dear Dr. Boschann, you have been selected for the Clinician Scientist Program of Alliance4Rare. What motivated you to take this particular path in science and clinical practice?

For me, human genetics is the cross-sectional subject in medicine, as we do not only deal with one organ system, but try to understand the molecular basis of various diseases. I am particularly fascinated by the close connection between clinical work and research. 

We are in close interdisciplinary exchange with the other specialties and care for patients of all ages. The questions I deal with in the clinic are very diverse. In recent years, there have been great technological advances in the field of genetic diagnostics. As a result, new disease genes and disease mechanisms are being deciphered every year. We estimate that up to 80% of the more than 7000 rare diseases known to date have a monogenic cause and that another 6000 are still to be discovered. In addition, gene therapy strategies are currently being tested or have already been approved for an increasing number of monogenic disease patterns. Thus, there is hope that these rare diseases can not only be diagnosed, but also effectively treated in the future.

What are you currently working on and what would you like to achieve?

My research focus is on hereditary connective tissue diseases. A special focus is on syndromic and familial clustered aortic diseases. We are currently assembling a cohort of cases that have not received a molecular diagnosis to date, although they developed dilatation or dissection of the aorta comparatively early. In these cases, we provide genomic and transcriptomic analysis, meaning that we sequence a large portion of the genome in addition to the 20,000 genes and look for abnormalities in gene expression.

The aim is to find new mutations in known genes that have not yet been detected by conventional diagnostics and to detect new disease genes. In the best case, this will end the diagnostic odyssey for many patients. At the same time, we see that molecular results have a major impact on individual patient management and risk assessment within the family. In addition to this translational benefit, we hope to find basic science insights into the molecular mechanisms of aortic aneurysm development.

Overall, I would like to see the status of genomic medicine, which is the basis for precision medicine, strengthened so that more patients have access to genomic analysis.

What opportunities does the support provided by the Alliance4Rare Clinician Scientist Program open up for you in your day-to-day work which you would not have otherwise?

The program allows me to spend 50% of my working time over the next three years creating and maintaining the cohort. I see the families in my office hours, collect the samples, and in further steps can evaluate the genomic data and validate exciting variants in the laboratory. I am released from other clinical activities for this time. Without the funding, this research project would not be feasible as pure "after-work research" in the daily university routine of an assistant physician. 

THE FELLOW
Dr. Felix Boschann studied medicine at the Charité Universitätsmedizin Berlin and is currently in residency training as a human geneticist at the Institute of Medical Genetics and Human Genetics there. Within the Clinician Scientist for Rare program, Dr. Boschann was able to convince with the project "Genome sequencing in hereditary connective tissue diseases". The funding period runs from July 2022 to 2025.
Platzhalterbild Forscher Zeichnung
Dr. Felix Boschann, fellow of the CS4RARE program
Foto: Dr. Felix Boschann
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