Research for Rare - Research for rare diseases

Optimizing care for young individuals with syndromes predisposing to myeloid malignancies

During the last decade, an increasing number of novel genetic disorders with predisposition to myeloid malignancy in young individuals has been identified. Like the inherited bone marrow failure syndromes, some of these disorders are associated with other organ dysfunction. MyPred brings together established researchers and integrates the German branches of two large International patient registries, the EWOG-MDS study (European Working Group of Myelodysplastic Syndrome (MDS) in Childhood) and the SCNIR (Severe Congenital Neutropenia International Registry). Together with a cohort of individuals with predisposition and preexisting platelet disorder, MyPred includes 550 individuals at risk for myeloid neoplasia. It implements a variety of novel aspects relevant for patient care like deep clinical phenotyping. With standardization of surveillance sequencing panels, dissection of clonal architecture and identification of targetable lesions in preclinical models MyPred will pave the way for precision medicine. MyPred aims to discover novel causative genetic variants using an integrative whole genome/transcriptome sequencing approach. With research projects focusing on the impact of (epi-)genetic acquired alterations and the role of the bone marrow niche, MyPred will broaden our knowledge on malignant transformation in predisposition syndromes. Comparative outcome studies on stem cell transplantation will provide the scientific basis for revised guidelines of clinical management, while modern information strategies will support self-management of affected patients and families.

Projects

<li>Discovery of novel genetic entities with predisposition to myeloid neoplasia (Prof. Dr. B. Schlegelberger, Hannover Medical School, Dr. M. Wlodarski, University Medical Center Freiburg)</li>

<li>Deep phenotyping and dissection of clonal architecture in syndromes with predisposition to myeloid malignancy (Prof. Dr. C. Niemeyer, University Medical Center Freiburg, Prof. Dr. G. Göhring, Dr. C. Zeidler, Hannover Medical School)</li>

<li>Improving treatment strategies for patients with inherited predisposition to myeloid malignancy (PD Dr. B. Strahm, PD Dr. A. Yosihimi-Nölke, University Medical Center Freiburg, Prof. Dr. J. Skokowa, University Hospital Tübingen)

<li>Understanding malignant transformation in predisposition syndromes with thrombocytopenia (Dr. T. Ripperger, T. Illig, Hannover Medical School) </li>

<li>The role of different types of RUNX1 mutations in combination with trisomy 21 or monosomy 7 in the leukemia development in severe congenital neutropenia patients (Prof. Dr. J. Skokowa, Prof. K. Welte, University Hospital Tübingen) </li>

<li>Tailoring treatment to molecular subgroups of JMML with genetic predisposition (Prof. Dr. C. Flotho, University Medical Center Freiburg) </li>

<li>Eradicating the preleukemic clone in transient abnormal myelopoiesis in neonates with Down syndrome (Prof. Dr. J.-H. Klusmann, University Hospital Halle) </li>

<li>Understanding the role of monosomy 7 in the context of genetic predisposition to leukemia (Prof. Dr. M. Erlacher, University Medical Center Freiburg) </li>

<li>Role of hematopoietic niche dysfunction in patients with hereditary predisposition to myeloid malignancies (Prof. Dr. R. Meisel, Dr. M. Remke, University Hospital Düsseldorf) </li>

Contact

Dr. med. univ. Miriam Erlacher, PhD

University Medical Center Freiburg
Division of Pediatric Hematology and Oncology
Mathildenstr. 1
79106 Freiburg

Tel.: +49-761 270430 10

E-Mail: miriam.erlacher@uniklini-freiburg.de