IBG Researcher Dr. Yavuz Oktay Takes Part in a Transcontinental Rare Disease Genomics Project Funded by the Prestigious MRC

IBG Researcher Dr. Yavuz Oktay Takes Part in a Transcontinental Rare Disease Genomics Project Funded by the Prestigious MRC

After receiving the ERA-Chair grant award for our RareBoost project, we are very happy to announce a second international success in the field of rare diseases.

Although we are all going through difficult times, the new and important scientific advances continue to give us hope, and we are proud to be a part of them.

IBG has started an international strategic partnership with University College London (UCL) on a project that aims to establish a brand new International Center for Genomic Medicine in Neuromuscular Diseases. The project, led by Prof. Michael Hanna at the UCL, was awarded £3.66 million from the MRC (Medical Research Council, UK), with an additional £2 million support from the UCL, Newcastle and Cambridge Universities. The project combines the collaborative efforts of 15 centers from six countries spanning four continents. International research centers from England, Turkey, Brazil, India, South Africa and Zambia will be participating in the development of a “Virtual Genomics Center” with the focus of improving the lives and health outcomes of children and adults with Neuromuscular Diseases across the globe. The specific mission of the project is to discover new disease genes, explore disease mechanisms, create a cohort and increase the number of patients who have an accurate genetic diagnosis.

Along with IBG, Dokuz Eylul University (DEU) Nevvar Salih İşgören Children’s Hospital, Ankara Bilkent City Hospital and the University of Health Sciences (SBU, Izmir) Tepecik Hospital will take part in this project.

Dr. Yavuz Oktay from IBG, Prof. Dr. Uluç Yiş from the Paediatric Neurology Department of the Faculty of Medicine of DEU and Prof. Dr. Haluk Topaloğlu from Hacettepe University will be leading the Turkish part of the project. The chair of the Paediatric Neurology Department of DEU; Prof. Dr. Ayşe Semra Hız is also involved in the project. She has been the project coordinator of another IBG involved international rare diseases project, which was funded by Newton-Katip Çelebi Foundation in 2016 and has great importance in facilitating the formation of the collaboration with UCL.

Dr. Yavuz Oktay leads a group at IBG which focuses on the elucidation of mechanisms underlying the genetic predisposition to diseases of the human nervous system. We asked him about his new partnership with the UCL:

“Thanks to this new project, the detailed genetic analysis of between 5.000 to 15.000 patients will be performed in a span of 5 years, which will facilitate the addition of important contributions in the diagnosis and treatment fields of Neuromuscular Diseases. The data obtained from this project will lead to new research on understanding the important mechanisms underlying these diseases. The systematic analysis of clinical phenotypes and genomics data, that will be performed using a very big cohort, will enable us to reveal the correlation between the phenotype and the underlying genetic factors. Two young paediatric neurology researchers from Ankara and Izmir who studied this subject at UCL in January 2020 will translate their knowledge into their genomic medicine PhD studies supported by this project. Lastly, I would like to emphasize that the detailed genomic analysis of these patients will be performed using our country’s genomic analysis infrastructure. Therefore, I believe that a project with this extend will have important impacts on the Neuromuscular Diseases field in Turkey, and will lead to more international collaborations in future.”

The project leaders Dr. Oktay, Dr. Topaloğlu and Dr. Yiş all agreed that the long term target of this project will be to facilitate new molecular treatments in the field of ‘Personalised Medicine’.