Very early onset inflammatory bowel disease (VEO-IBD) comprises a heterogeneous group of disorders clinically characterized by severe and often intractable intestinal inflammation in children. We have recently identified IL‑10 and IL‑10R deficiency as novel cause for refractory infantile IBD using homozygosity mapping studies and candidate gene sequencing (Glocker et al., New England Journal of Medicine 2009). Based on the knowledge of the underlying molecular etiology, we have successfully performed allogeneic hematopoietic stem cell transplantation in IL‑10R‑deficient patients, as an innovative therapeutic approach for patients with IBD (Kotlarz et al., Gastroenterology 2012). These paradigmatic studies have exemplified that VEO-IBD can be caused by monogenetic defects and represents an exquisite model system to elucidate pathways controlling immune homeostasis in the human gut. Moreover, the identification of monogenic defects will provide rational arguments for potential life saving and genetic-tailored treatments of an intractable/devasting disease.
Razieh Khoshnevisan, born on September 5th, 1985 in Wom, Iran, Doctor of Veterinary Medicine (DVM) graduated at Shahrekord University, Shahrekord, Iran. She is currently Student at the Medical University of Esfahan, Iran under the supervision of Prof. Roya Sherkat and Prof. Abbas Rezaie.
During her research internship she will help the lab of Christoph Klein to elucidate novel genetic signatures in patients with very early onset inflammatory bowel disease.She will receive practical training in state-of-the-art translational science on rare diseases and primary immunodeficiencies. She will be involved in the recruitment of children with primary immunodeficiencies and very early onset inflammatory bowel disease from Iran. Our collaboration will provide Iranian patients with rare diseases access to modern genetic diagnostics and therapies.