Supported projects

2019

  • Title :  Detection of central nervous system-specific antibodies using human induced pluripotent stem cells: from discovery of new antigens to diagnosis

    D. A. Mathias (PhD)
    Laboratory of neuroimmunology
    Service of neurology
    Research Center of clinical neurosciences 
    Vaudois University Hospital Center (CHUV), Lausanne

Summary : The last decade has seen a thrilling rise in the discovery of central nervous system (CNS)-reactive autoantibodies involved in neurological disorders. The identification of such autoantibodies led to profound changes in therapeutic approaches. Nevertheless, about 10% of the patients developing autoimmune limbic encephalitis remain seronegative for all currently known CNS antigens. Here, we want to develop an assay to screen for the presence of novel CNS-specific antibodies in sera and cerebrospinal fluid using CNS cells derived from human-induced pluripotent stem cells. Ultimately, this project should help establishing early diagnosis and optimizing treatments of antibody-mediated diseases of the CNS.

Financial support: 20'000 CHF

  • Title :  Metabolomics for the detection of novel biomarkers and novel inborn errors of metabolism

    Dr D. Mathis
    Division of Clinical Chemistry and Biochemistry
    University Children’s Hospital Zurich (KISPI)

Summary : The project aims to develop a novel approach based on metabolomics to analyse blood samples of patients with symptoms suggesting an inborn error of metabolism but with so far unknown diagnosis. The novel technology will allow to discover metabolites that are significantly increased or decreased in the disease condition. The combination of the metabolomics data with genomics data from whole exome sequencing could lead to the discovery of novel disorders and assess the so far unknown diagnosis. Furthermore, our project has the potential to implement high-resolution mass spectrometry into diagnostic clinical laboratory.

Financial support: 20'000 CHF


2018

  • Title :  Automatic determination of haemoglobin variants by top-down mass spectrometry analysis  

    Dr D. Coelho Graça
    Diagnostic Department
    Laboratory Medicine Service
    University Hospitals of Geneva (HUG)
    and
    Medical School
    Department of Internal Medicine Specialties
    Department of Laboratory Medicine, Laboratory of Chemistry and Clinical Proteomics

Summary : Hemoglobinopathies, which are hemoglobin (Hb) disorders, are the most frequent inherited recessive disorder in the world. Their diagnosis is a complex process based on clinical and biological data. Today, several manual techniques are required to characterize Hbs present in a sample. In order to characterize these Hbs, we aim to develop a mass spectrometry method and associated data analysis that would be compatible with clinical laboratory practice. Our developments should bring more specific information and will allow to automate this step of the process.

Financial support: 20'000 CHF

2017

  • Title : Study of a early biomarker of Drug-Induced Liver Injury by Quantitative “omics” 

    Dr D. Schvartz
    Science Department of Human Proteins
    University Medical Center of Geneva (CMU)

Summary : Paracetamol (APAP), a widely used antipyretic and painkiller, is the leading cause of acute liver failure in developed countries after supra-therapeutic doses. At therapeutic doses, up to one third of healthy volunteers develop liver test elevation and cases of DILI have been described in the presence of risk factors. We propose here a “omics”-based project aiming at finding out plasma biomarkers for the early diagnosis of APAP-induced liver injury. Finding out an early and specific signature of APAP-induced injury should allow better and earlier patients management and better diagnosis.

Financial support: 20'000 CHF

 

2016

  • Title : Study of tears in multiple sclerosis patients

    Dr N. Turck
    OPTICS Group
    Science Department of Human Proteins
    University Medical Center of Geneva (CMU)

Summary : As a dynamic system, the composition of tears can vary depending on the stimuli (whether physical, chemical or emotional) or on the presence of the disease. This fluid could therefore represents a promising source of biomarkers. Our project proposes to analyse tears in multiple sclerosis patients and to compare them to healthy controls in order to identify specific biomarkers. These biomarkers could help physicians to better diagnose and predict patient outcome. Furthermore, this project could deliver completely new strategies for patient management by replacing existing uncomfortable diagnostic tools (e.g lumbar puncture) with non-invasive, painless, easy and rapid fluid sampling, tears.

Financial support: 16'500 CHF


  • Title: Development and Validation of an In-House library for MALDI-TOF/MS identification of dermatophytes

    Dr L. Fontao, PhD, FAMH
    Dermatology and  Venerology Department
    Medical Specialties Department 
    Geneva University Hospital (HUG)

Summary : Approximately 20% of world’s population has dermatomycoses. These infections are made by dermatophytes, yeast, and non-dermatophytes molds. Currently, identification of the pathogen is made by culture which takes several weeks. We want to introduce MALDI-TOF/ MS as an alternative method for a correct identification of pathogen in dermatomycoses. We will build our own reference spectra library from Trichophyton sp. Microsporum sp. and Epidermophyton strains using the Bruker MicroFlexMALDI-TOF/MS. After its validation, library will be challenged with clinical isolates in daily practice. This study will conduct to a faster and more accurate identification of the pathogen than the traditionalculture method which will result in better care of patients.

Financial support : 20'000 CHF


2015

  • Title : Role of intraplaque vitamin D system on human carotid plaque vulnerability

    Dr Federico Carbone, MD, PhD
    Cardiology Department
    Medical Specialties Department  
    Geneva University Hospital (HUG)

Summary : Atherosclerotic plaque rupture is an inflammatory-driven process finally leading to life-threatening cardiovascular events. Among different anti-inflammatory strategies, immunomodulatory properties of vitamin D have been demonstrated in experimental studies, but not yet confirmed in clinical trials. Vitamin D system will be investigated within carotid plaque collected from patients symptomatic and asymptomatic for ischemic stroke. The correlation with markers of plaque vulnerability will be assayed, as well as the prognostic accuracy during 12 months follow-up. It is expected that the results of this study may improve the knowledge about vitamin D system, thus clarifying its role as biomarkers or even therapeutic strategy.

Financial support : 20'000 CHF


2014

  • Title: Looking for new biomarkers of cardiovascular risk in patients with chronic kidney disease (CKD)

    Dr T. Mannic, PhD
    HSDP/CPC Autoimmunity & Atherogenesis
    Geneva University Hospital (HUG)

Summary : Chronic Kidney Disease (CKD) is associated with a high prevalence of cardiovascular complications and deaths. Nevertheless, the timely identification of CV risk in such patients can’t be accurately achieved by current risk stratification models, and therefore still represents an unmet clinical need. On the blood taken from 2728 CKD patients followed-up for 4 years, different biomarkers of inflammation and autoimmunity will be measured in order to determine their respective cardiovascular prognostic accuracy. On the long term, the results from this study may constitute a rationale to improve the identification of cardiovascular risk in CKD patients based on a simple blood test, which in turn could improve patients care.

Financial support : 30'000 CHF