ERDERA grant – MSD translational research grant approved – 2.1 million Euro for Champion Grant award.

ERDERA – the European Rare Diseases Research Alliance – is a European partnership with an estimated overall budget of 380 million euros until 2031. ERDERA aims to have a major impact on rare diseases by supporting patient driven research to develop new treatments and diagnostic pathways and harnessing the potential of health and research data, Artificial Intelligence (AI) and digital technologies.

Funding totalling 2.1 million Euro to carry out research on Multiple Sulfatase Deficiency will be distributed across 5 research institutions. Successful grants of this scale do not happen by chance or from researchers compiling last minute ideas before the grant deadline! Especially for rare or ultra-rare conditions. This grant opportunity was focussed on translation research. With knowledge I have around the preliminary data, as citizen scientist! I believe there is a huge chance to narrow down drug hits in order to arrive at a lead candidate to potentially treat MSD. I also hope that this research project will uncover other similar conditions to MSD that could benefit, there is a reasonable chance of this.

The coming together of the research teams was an extraordinarily lengthy process! Back in 2015, I began going through research groups that discovered the defective gene that results in MSD. This work led me to the then Dr. Lars Schlotawa (now a Professor) Lars had carried out much MSD research in Germany and he kind of inherited a legacy of MSD research from the initial research group he joined at the lab of Prof. Kurt von Figura  at University Medical Center Gottingen (UMG), Germany. I met Lars first in London in Trafalgar Square in March 2016, from that meeting and the next, I was confident I could put my faith in him, and I believed he was going to put his faith in me! Since then, we have met more than 35 times in 10 different countries. I hosted the first ever MSD conference in Dublin in 2017 and Lars was a co- chair. At this conference, I introduced to a scientist Dr. Matthew Campbell (TCD) from Ireland whom I had connected with also. As the next years rolled on and MSD research progressed. I always wanted to try to draft researchers in Ireland into the fold for MSD research, but I struggled to see a clear an obvious opportunity that looked the ideal fit. I guess I wanted to leverage skills of the researchers in Ireland and try to integrate them into MSD research somehow. When this ERDERA grant came up all of the partners were people either Lars or I knew and believed in. This was the time to call up Matt Campbell, and when I did, I was buzzing when he loved the research plan when I explained the structure of the project. TCD would be an ideal group to do the mouse work on the new MSD mouse model that my organisation, MSD Action Foundation, had initiated the creation of including funding and ongoing collaboration with its development. Gergo Porkolab from Matt’s Lab would take the lead on the project in TCD. Funding of 440K will go to Trinity College Dublin (TCD) as part of this successful ERDERA grant.

At University of Ljubljana in Slovenia Igor Locatelli was a close colleague of a collaborator Rok Dreu that Lars and I already worked with through REMEDI4ALL. It was in Ljubljana that they made drug formulations for another MSD research project. Their pharmacological skills to produce drug formulations when drug hits are narrowed down in this new grant would be a key component of the project. Igor was in the boat too for this ERDERA project. I was delighted as I knew he had the skills, environment and the desire to make a difference.

As we thought more about the project and Lars and I thought about other collaborators we spoke to our friend Dr. Rebecca Ahrens-Nicklas at CHOP, Philadelphia and Rebecca knew two scientists in the Netherlands Rik Van der Kant and Martin Giera from her collaboration with the Chan Zuckerberg Initiative (CZI) network. I remembered Rik as I had met him over lunch at a CZI conference in Berkley, CA. We hypothesized that Rik or Martin would be a great fit to approach to undertake part of the multi omics work that was needed on the new grant. Lars reached out to Rik and Martin who were thankfully very responsive, and we had a great call to introduce the research plan. Martin Giera from Leiden University was going to be the ideal person to carry out the multi omics for the project. This felt like another scoop! a talented group, in Leiden, with form, the equipment and enthusiasm!

Lars engaged with the Fraunhofer (ITMP) Institute for Translational Medicine and Pharmacology, Germany after a pursuit to find an automated drug screening platform. This was as a result of a critical feedback recommendation from a grant application for a previous manual drug screening research proposal that just missed the pay cut for funding! The action of the collaboration with Fraunhofer led to subsequent grant that was co-funded by MSD Action Foundation and The Health Research Board (both Ireland). The key person was Dr. Ole Pless at Fraunhofer. In that previous project Fraunhofer’s robot successfully screened their library of more than 5600 drugs. The outcomes of this research project led to an exciting 56 hits. These hits will be narrowed down to just a few by leveraging the skills of the research teams and the various knowledge streams such as that of Matt Cambell who has a strong career focus on the blood brain barrier (BBB) and trying to get drugs to pass the tight junction that is the BBB. So Fraunhofer were in the boat also to assist with the new research project. They have so much to offer as we worked with them before via a different MSD REMEDI4ALL research project.

Jordi Carreras Puigvert at Uppsala University in Sweden, another collaborator that we collaborate with our MSD REMEDI4ALL research entered the fold and they can help by adding their skills to the project to do cell painting experiments to look at how healthy the treated cells really are. Another great skillset that will help us to arrive at the best hits. Good science is what we need, and this will reinforce it.

In each of the countries Germany, Netherland, Slovenia, Ireland and Sweden the research institutions were all funded by their national research funders that became members of ERDERA. MSD Action Foundation will get a small amount of funding for their involvement in the research project as a collaborator. I am incredibly grateful for the funding awarded to the institutions. There are other collaborators in the USA, who will assist for which I am also grateful to as their contributions as experts on MSD will be particularly important also and they are Dr. Xinying Hong, Dr. Rebecca Ahrens-Nicklas and Dr. Laura Adang, all of CHOP, USA.

Overall, I am bullish! you can see a little of why! We have a wonderful team, with form, enthusiasm and the skills and desire to carry our good science to try to deliver and make this research a resounding success! Special thanks to the HRCI/HRB joint funding scheme for helping MSD Action Foundation to co-fund exceptional, world class science that was the enabler for this project which has enormous potential for patient benefit. I totally understand no research is guaranteed but this for me is no ordinary mundane research project, this is a once in a lifetime effort to uncover a treatment for MSD. The hope is that the fruits from this project will lead to MSD clinical trials and hopefully evidence that patients can benefit and have a much better quality of life.

Written by Alan Finglas, a dad to an angel that suffered from MSD

To read more about this via #TrinityResearch, see: https://lnkd.in/d8Qd5F_7