Research for Rare - Research for rare diseases

Translational Research for Persons with Abnormal DNA Damage Response

Disorders with Abnormal DNA Damage Response (DADDR) are rare genetic conditions with impaired DNA repair or maintenance. A shared feature among affected individuals is a strongly increased cancer risk. Treatment is commonly complicated due to the underlying genetic defect. Patients may suffer from excessive toxicity/secondary neoplasms, poor treatment response, and high mortality when treated with standard radiation/chemotherapy regimens. The development of treatment strategies is urgently needed. The proposed consortium is composed of patient representatives, physicians from the areas of psychosomatic medicine, gynecology, pediatric and adult hematology/oncology, radiology, pathology, and human genetics, and scientists specialized in cancer and DNA repair.

We aim at improving patient information/involvement as well as therapeutic guidance for health professionals; further elucidating disease-causing mechanisms; improving both psycho-social support and cancer surveillance employing innovative magnetic resonance imaging techniques in patients with Li-Fraumeni syndrome; advancing the use of brush biopsies employed as cancer surveillance tool for individuals with Fanconi anemia who exhibit an excessive oral cancer risk; identifying genetic markers of leukemia development; characterizing the genetic and epigenetic profiles of tumors to exploit these findings diagnostically and identify novel vulnerabilities for treatment and investigate new cancer therapies in pre-clinical disease models.
Projects

Contact
Prof. Dr. med. Christian Kratz
Pediatric Hematology and Oncology
Hannover Medical School
Carl-Neuberg-Str. 1
30625 Hannover
Tel. +49 511 532-6711
E-Mail: kratz.christian@mh-hannover.de