Identification of novel clinical predictive variables and endpoints in individuals with urea cycle disorders

Urea cycle disorders constitute a group of rare inherited disorders of the intermediate metabolism. Despite all diagnostic and therapeutic efforts, neonatal mortality of affected individuals is still up to 50% due to hyperammonemic brain damage. The funded study investigates whether MR morphological and spectroscopic changes in the brains of children with urea cycle disorders 1.) correlate with the severity of metabolic decompensation(s) and 2.) qualify as predictors for the neurological and/or cognitive outcome.

Ernährung im Fokus der Forschung

Bad Homburg v.d. Höhe, 18. Januar 2021 – Mit der Einrichtung einer Seniorprofessur an der Ludwig-Maximilians-Universität München (LMU) München setzt die Else Kröner-Fresenius-Stiftung (EKFS) ihr Engagement im Bereich Ernährungsmedizin fort. Inhaber der neu geschaffenen Professur ist ab sofort Prof. Dr. Berthold Koletzko, der langjährige Leiter der Abteilung für Stoffwechsel und Ernährung für Kinder und Jugendmedizin am Klinikum der Universität München. Die Professur ist mit einer Million Euro für fünf Jahre dotiert.

Monogenic CD33 deficiency as cause of pediatric inflammatory bowel disease – A model to explore mechanisms and therapeutic targets for inflammatory and hematological disorders

Children with very early onset IBD (VEO-IBD) show life-threatening diseases that often fail to respond to conventional therapies. To explore genetic causes of VEO-IBD, we have analyzed one of the largest international cohorts using next-generation sequencing. In this screen, we have unraveled germline CD33 mutations as a novel cause for VEO-IBD. Here, we propose to employ sophisticated human disease models (induced pluripotent stem cells, CRISPR/Cas9-engineered T cells, humanized mice) to decipher the molecular mechanisms of immune dysregulations caused by CD33 deficiency.

Research Center On Rare kidney Diseases >>RECORD<<

In the field of rare diseases, it is important to develop innovative technologies to investigate the potential benefits of targeted drugs and to analyze the impact of possible gene therapy. Particularly in the field of rare diseases, animal models are very often not available to investigate the acute and long-term consequences of the correction of congenital or acquired genetic defects in body cells.

Else Kröner Clinician Scientist Professuren 2021

Obschon es mittlerweile an vielen Orten Programme gibt, die dem Nachwuchs eine solche Ausbildung während der Facharztweiterbildung bieten, bleibt die Attraktivität für den Berufsweg als Clinician Scientist beschränkt, weil geeignete Anschlusspositionen nach Ablauf der Clinician Scientist-Programme fehlen.

Als einen Lösungsansatz schreibt die Else Kröner-Fresenius-Stiftung als Modell jährlich drei 

Else Kröner Clinician Scientist Professuren

Identification of obstructive sleep apnoea as a novel and potentially treatable risk factor for postoperative de-novo silent and symptomatic atrial fibrillation after elective coronary artery bypass grafting surgery (CONSIDER AF – OBSERVATION)

Postoperativ neu aufgetretenes Vorhofflimmern zählt zu den häufigsten Komplikationen nach herzchirurgischen Eingriffen und ist mit einer erhöhten Morbidität, Mortalität und einer längeren Behandlungsdauer assoziiert. Insbesondere asymptomatische, „stille“ Vorhofflimmer-Episoden werden in der klinischen Routine häufig unterdiagnostiziert.

Role of the blood-derived coagulation factor Fibrinogen on Fibrotic Scaring in CNS disease

Scar formation is a common response to many central nervous system (CNS) disorders and a major obstacle blocking axonal regeneration in CNS disease. Previous work identified perivascular fibroblasts as a novel source of the “fibrotic” non-neural lesion scar in CNS disease. However, factors regulating fibrotic scar formation in CNS disease remain unknown. This study will identify the role of a changed environment in CNS disease with vasculature rupture and deposition of the circulating blood-derived coagulation factor fibrinogen on perivascular fibroblast activation and ECM deposition.

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