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                                                                                1. CCRC-HaunerEN
                                                                                2. Research Labs
                                                                                3. Griese Lab

                                                                                Griese Lab

                                                                                • Research topics

                                                                                  • Register for Children´s interstitial lung diseases (chILD)
                                                                                  • Identification of novel candidate genes in children with rare idiopathic lung diseases by whole exome trio analysis
                                                                                  • Characterization of the ATP-binding cassette (ABC) transporter ABCA3 and ABCA3 mutations as a cause for interstitial lung diseases in children (chILD)
                                                                                  • Identification of therapeutic modulators for mutant ABCA3

                                                                                  Prof. Dr. med. Matthias Griese

                                                                                  ✉ Matthias.griese@med.uni-muenchen.de

                                                                                  ☎ +49-89-4400-57870

                                                                                • Children´s interstitial lung diseases (chILD) Register and European Management Platform

                                                                                  Interstitial lung diseases are rare entities but account for a broad range of pulmonary diseases in children. The final diagnosis is often difficult and frequently a lung biopsy is needed. The European management platform is a resource which supports care and research for rare lung diseases in children. Beyond peer-review by experts, the platform functions as a register with a biobank, and follows patients over time.

                                                                                  http://www.klinikum.uni-muenchen.de/Child-EU/en/child-eu-register/Forms-for-referral_support/index.html

                                                                                  Exome-wide genetic screening in children with rare interstitial lung diseases (chILD)

                                                                                  In addition to the histological phenotype, subcategories of interstitial lung diseases may be defined genetically. Cases with a strong genetic indication are analyzed using Whole Exome Trio Analysis (parallel analysis and interpretation with the genetic information of healthy parents). Aim of the study is the identification of the disease-causing variant to define novel candidate genes causing the specific phenotype. Reduction of invasive diagnostic procedure in the future is desirable.

                                                                                  Mutations in ABCA3 as a cause for interstitial lung diseases in children (chILD)

                                                                                  The ATP-binding cassette (ABC) transporter ABCA3 is a phospholipid transporter, which is implicated in pulmonary surfactant homeostasis and localized at the limiting membrane of lamellar bodies, the storage compartment for surfactant in alveolar type II cells. Pulmonary surfactant, a complex mixture of lipids and proteins that lines the alveolar surface, prevents alveolar collapse by reducing the surface tension at the air-liquid interface in the alveoli. Mutations in ABCA3 were identified as the most common monogenetic cause of surfactant dysfunction disorders in newborns and interstitial lung diseases in children and young adults.

                                                                                  Although the effect of mutations resulting in truncated or incomplete proteins can be predicted, the consequences of missense variants cannot be as easily. Therefore, we investigate the intracellular handling and disturbance of the cellular surfactant system of clinically relevant ABCA3 missense mutations..

                                                                                  Identification of therapeutic modulators for mutant ABCA3
                                                                                  Missense mutations in ABCA3 might either impair correct folding of the protein or its function. Misfolding of the protein leads to its degradation and impedes its normal processing and trafficking to the outer membrane of lamellar bodies. Mutations in the nucleotide binding domains in contrast can lead to functional impairment of the protein by abolishing ATP binding or hydrolysis. Recent advances in the identification of modulators of CFTR, an ABC transporter that is mutated in cystic fibrosis patients, revealed the possibilities of pharmacological rescue of mutant proteins by so called correctors and potentiators, that either rescue the folding and processing of the mutant protein or its function, respectively. We identified several correctors and potentiators for mutant ABCA3 and established a high-throughput screen to identify further modulators in cooperation with the Assay Development and Screening Platform (ADSP) of the Helmholtz Center Munich.

                                                                                • Prof. Dr. med. Matthias Griese

                                                                                  Group Leader

                                                                                  ☎ +49-89-4400-57870

                                                                                  ✉ Matthias.Griese@med.uni-muenchen.de



                                                                                  Christina Rapp, M.Sc.

                                                                                  Doctoral Researcher (PhD track)

                                                                                  ☎ +49-89-4400-52788

                                                                                  ✉ Christina.Rapp@med.uni-muenchen.de



                                                                                  Hannah Rappert

                                                                                  Doctoral Researcher (MD track)

                                                                                  ✉ Hannah.Rappert@med.uni-muenchen.de


                                                                                  Julian Warfsmann, M.Sc.

                                                                                  Doctoral Researcher (PhD track)

                                                                                  ✉ Julian.Warfsmann@med.uni-muenchen.de


                                                                                  Vanessa Nalewaja, M.Sc

                                                                                  Doctoral Researcher (PhD track)

                                                                                  ✉ Vanessa.Nalewaja@med.uni-muenchen.de


                                                                                  PD Dr. med. Florian Gothe, PhD

                                                                                  Clinician Scientist

                                                                                  ✉ Florian.Gothe@med.uni-muenchen.de



                                                                                  Moritz Herkner, M.Sc.

                                                                                  Doctoral Researcher (MD track)

                                                                                  ✉ Moritz.Herkner@med.uni-muenchen.de



                                                                                  Julia Schöps

                                                                                  Doctoral Researcher (MD track)

                                                                                  ☎+49-89-4400-57716

                                                                                  ✉ Julia.Schoeps@med.uni-muenchen.de


                                                                                  Xiaohua Yang, PhD

                                                                                  Postdoctoral Researcher

                                                                                  ☎+49-89-4400-57717

                                                                                  ✉ Xiaohua.Yang@med.uni-muenchen.de

                                                                                  Julia Rodler, Clinician Scientist

                                                                                  Dr. med. Katarzyna Michel, Clinician Scientist

                                                                                  Lujia Zhang MSc, Doctoral Researcher (PhD track)

                                                                                  Andrea Schams, CTA

                                                                                  Evi Reisch, Administration / Register

                                                                                  Angelika Gold, Administration / Clinical Study Manager

                                                                                  Nguyen-Binh Tran, Data Management

                                                                                • Pubmed

                                                                                Research at CCRC Hauner

                                                                                Contact LMU Klinikum

                                                                                Contact CCRC Hauner

                                                                                Haunersches

                                                                                CCRC Hauner

                                                                                Kinderklinik und Kinderpoliklinik

                                                                                im Dr. von Haunerschen Kinderspital

                                                                                Ludwig Maximilians Universität München

                                                                                Lindwurmstr. 4

                                                                                80337 Munich, Germany

                                                                                ☎ +49-89-4400-57705

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                                                                                • Deutsch - de
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                                                                                Comprehensiv...

                                                                                • Clinical research
                                                                                  • Interdisciplinary pediatric study center (Hauner iPSC)
                                                                                  • Ped-COVID-19 Study
                                                                                  • Michael Albert
                                                                                  • Scivias Study
                                                                                  • TRACE Study
                                                                                  • ImmGenDC Study
                                                                                  • Hematology/Oncology/Coagulation
                                                                                • Research Labs
                                                                                  • Binder Lab
                                                                                  • Bohlen Lab
                                                                                  • Braun Lab
                                                                                  • Griese Lab
                                                                                  • Hauck Lab
                                                                                  • Hübner Lab
                                                                                  • Jeremias lab
                                                                                  • Kim-Hellmuth Lab
                                                                                  • Klein Lab
                                                                                  • Koletzko Lab
                                                                                  • Kotlarz Lab
                                                                                  • Lange-Sperandio Lab
                                                                                  • von Mutius Lab
                                                                                  • Nußbaum Lab
                                                                                  • Rosenecker Lab
                                                                                  • Schaub Lab
                                                                                  • Schmid Lab
                                                                                  • Schwerd Lab
                                                                                • PhD Program
                                                                                • Technology platforms
                                                                                  • Bioinformatics
                                                                                  • Flow Cytometry
                                                                                  • High throughput sequencing
                                                                                  • Microscopy
                                                                                  • Pre-GMP Facility
                                                                                  • Mass spectrometry
                                                                                  • Hauner Biobank
                                                                                  • Organoid Lab
                                                                                  • Humangenetik am Hauner
                                                                                • News/Events
                                                                                  • News
                                                                                  • Rare Disease Day
                                                                                  • ECHO-Meeting
                                                                                  • Meinhard von Pfaundler-Lectures
                                                                                  • Klaus Betke Symposium
                                                                                • Join us!