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    1. CCRC-HaunerEN
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    3. Humangenetik am Hauner

    Humangenetik am Hauner

    Human genetics for children with rare diseases


    Humangenetik am Hauner represents an interface between the treatment of young patients in the hospital and the innovative research here at the Comprehensive Childhood Research Center (CCRC).

    The genetic cause of our patients' diseases here at the Dr. von Hauner Children's Hospital is investigated using state-of-the-art sequencing technologies. The resulting human genetic diagnoses are then incorporated into the treatment of the patients. In recent years, well over 5000 patient exomes have been sequenced and a definitive genetic explanation has been found for around 20% of patients. In addition, over a dozen new genetic diseases have been scientifically described for the first time through active translational research at the Hauner. The processes are organizationally bundled as Humangenetik am Hauner and draw on the resources of patient care and technologies at the CCRC, including the laboratories, high-throughput sequencing and the bioinformatics infrastructure - all with the aim of helping children with rare diseases!


    High throughput sequencing
    Bioinformatics
    Accreditation & Service specifications

    Humangenetik am Hauner has been accredited as a medical laboratory by the Deutsche Akkredidierungstelle (DAkkS) in accordance with DIN 15189 since 31.05.2024. The accreditation applies to the following scope of accreditation:

    • Field of investigation: Human genetics (molecular human genetics)
    • Type of examination: Molecular biological examination (amplification procedure): Whole Exome Sequencing (WES)

    The costs of the analyses offered are settled with the statutory health insurance funds in accordance with the doctors' fee schedule. In the case of privately insured patients, the possible assumption of costs by the private health insurance company should be clarified in advance; here, too, invoicing is based on the scale of fees for doctors.

    In the flexibly accredited scope of Humangenetik am Hauner, no procedures are currently offered.

    According to the Gendiagnostikgesetz (GenDG), the genetic analyses offered by the Humangenetik am Hauner must be ordered by a doctor. You can submit the orders to us together with your treating physicians at the Dr. von Hauner Children's Hospital.

    It usually takes 4-6 weeks to process genome-wide analyses.

    We want our patients and their families as well as our medical colleagues to be satisfied with our services and therefore welcome any suggestions or criticism that can help us to improve our work. Since Humangenetik am Hauner works mainly for the patients of the Dr. von Hauner Children's Hospital, please communicate your inquiries preferably via your treating physicians at the Dr. von Hauner Children's Hospital. They will be happy to forward your request to us and we will deal with it as quickly as possible as part of our complaints management. Alternatively, you can contact our team at genetik.hauner@med.uni-muenchen.de. We or the doctors treating you will give you feedback on the measures taken as soon as possible.

    Service Specification
    List of Procedures in the Flexible Scope of Application
    Modellvorhaben Genomsequenzierung

    The importance of genomic medicine in medical care has now been widely recognized.

    The Modellvorhaben Genomsequenzierung (MV GenomSeq) is the centerpiece of the National Strategy for Genomic Medicine and aims to integrate genomic medicine into German healthcare. In the Gesundheitsversorgungsweiterentwicklungsgesetz (GVWG) of 11.07.2021 (BGBl, 2754), a model project for comprehensive diagnostics and therapy finding using genome sequencing for rare as well as oncological diseases was legally anchored in §64e SGB V.

    Goals and benefits:

    • Early and precise diagnosis: Identification of genetic changes for better treatment.
    • Personalized therapies: Treatments are specifically tailored to genetic characteristics.
    • Scientific research: gaining new insights into the connection between genetic changes and diseases.

    The Modellvorhaben started clinical application in 2024. It currently involves the cooperation of numerous service providers (more than 25 (university) clinics and medical centers organized in networks) as well as the Spitzenverband der Gesetzliche Krankenversicherungen (GKV-SV) as the funding body. The LMU Klinikum in Munich is one of the locations where rare and oncological diseases are specifically diagnosed, treated and researched using genome sequencing.

    The platform of the Modellvorhabens Genomsequenzierung, which is operated by the Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM) as the platform provider, also plays an important role. This makes clinical and genomic data available for both patient care and research. Data is made available on request and is subject to strict controls and meets the highest safety standards.

    Links
    • Modellvorhaben Genomsequenzierung at the LMU Klinikum
    • BfArM - Modellvorhaben Genomsequenzierung
    • GKV-SV - Modellvorhaben Genomsequenzierung
    • Service Specification of Humangenetik am Hauner
    • Kinderklinik - Fach-& Arztinfos - Seltene Erkrankungen
    • MZSE: Münchener Zentrum für seltene Erkrankungen des LMU Klinikums

    Contact & Team

    Please contact: Genetik.Hauner@med.uni-muenchen.de

    Dr. Meino Rohlfs

     Head of the NGS facility of Humangenetik am Hauner

    ✉ meino.rohlfs@med.uni-muenchen.de


    Dr. med Thomas Bettecken

      Facharzt für Humangenetik

    ✉ thomas.bettecken@med.uni-muenchen.de


    Dr. med Lisa Peterson

     Fachärztin für Humangenetik; Fachärztin für Innere Medizin und Hämatologie und Onkologie

    ✉ lisa.peterson@med.uni-muenchen.de


    Research at CCRC Hauner

    Contact LMU Klinikum

    Contact CCRC Hauner

    Haunersches

    CCRC Hauner - Comprehensive Childhood Research Center

    Kinderklinik und Kinderpoliklinik

    im Dr. von Haunerschen Kinderspital

    Ludwig Maximilians Universität München

    Lindwurmstr. 4

    80337 Munich, Germany


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