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Research Study into Leigh Syndrome Receives Large EU Grant 

IMP is delighted to be a participant in a recently awarded 'CureMILS - A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome' grant from INSERM as part of the European Joint Programme on Rare Diseases.

As part of the grant, IMP will contribute its expertise of the burden of living with Leigh syndrome or having a child suffering from Leigh syndrome. IMP may also help identify patients to be involved in the project, as well as organise a workshop at the end of the project to share results and discuss implementation of the study results. The award budget for IMP is 50,000 euros as part of the 3 year project. Dr Philip Yeske, IMP Board Member and UMDF's Science and Alliance Officer, will serve as the main point of contact for the project. Read more about the project below.

 

New European research consortium to study rare disease in children 

Snapshot of video re CureMILS program

Prof. Dr. Alessandro Prigione at the University Hospital Düsseldorf / Heinrich Heine University Düsseldorf coordinates the consortium with partners from seven countries 

The Joint European Program for Rare Diseases (EJP-RD), established within the European Research Framework Program Horizon 2020, brings together over 130 institutions from 35 countries. It has focused on preclinical research to develop effective therapies for rare diseases. It will now fund a new international consortium called CureMILS with a total of 2.4 million Euros. The research project aims to develop therapies for mitochondrial DNA-associated Leigh syndrome (MILS).

MILS is a rare genetic neurological disorder of children that results from a disorder of mitochondrial metabolism. Currently, there are no cure or effective treatments for this severe disease, that leads to degeneration and death of brain regions. The life expectancy of affected children is only a few years.

One of the aspects that hinders the search for new therapies is the lack of effective disease models for MILS. To develop such models, CureMILS will use cellular reprogramming technology. It allows neuronal cells to be generated from patients' own skin cells. The reprogrammed neuronal cells will be used to test compounds using high-throughput screening. The identified compounds will be evaluated using three-dimensional brain organoids, organ structures that can be generated in the laboratory using stem cells. They can be obtained from skin cells of MILS-patients.

The consortium is coordinated by Prof. Dr. Alessandro Prigione at the Department of General Pediatrics, Neonatology and Pediatric Cardiology at the University Hospital Düsseldorf (UKD). The consortium will involve seven other partners from seven European countries: Germany (UKD and Fraunhofer IME Hamburg), Austria (University of Innsbruck), the Netherlands (Radboudumc Nijmegen), Finland (University of Helsinki), Poland (Institute of Genetics and Animal Biotechnology, Jastrzebiec), Italy (University of Verona), and Luxembourg (University of Luxembourg). The consortium is being conducted in collaboration with International Mito Patients (IMP), a network of national organizations on mitochondrial diseases. Other participants are cooperation partners from Germany, the Netherlands and Italy, Oroboros Instruments GmbH and the German Network for Mitochondrial Diseases (mitoNET).

EJP-RD link:  EJP RD – European Joint Programme on Rare Diseases (ejprarediseases.org)

EJP-RD funded Projects:  https://www.ejprarediseases.org/index.php/funded-projects-2020/

CureMILS website hosted by Oroboros Instruments: https://wiki.oroboros.at/index.php/CureMILS

Homepage of Prigione Lab: www.uniklinik-duesseldorf.de/prigione-labor

Watch Professor Prigione speak about the funding for the project.

 

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