The World Muscle Society is delighted to sponsor four Fellows from the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) to attend its 2022 Congress.

Dr Özlem Yayici Köken is an ICGNMD PhD Fellow. Her PhD project is focused on the genetic landscape of mitochondrial disease within Turkey. She has wide-ranging neuromuscular experience, including of Duchenne’s and other muscular dystrophies. She is a paediatric neurologist and Associate Professor of Paediatric Neurology in the Akdeniz University Faculty of Medicine, and retains strong links and cohort recruitment activity at Ankara City Hospital.

What has been your education and career path to date?

After graduating Ufuk University Faculty of Medicine in 2011, I completed the residency in pediatrics in Samsun Ondokuz Mayıs University between 2012-2016. During my residency, I also worked as a pediatric endocrinology clinical observer in the University of Pittsburg. I received my pediatric neurology fellowship education in Dr Sami Ulus Training and Research Hospital between 2016-2019 while attending a master degree program on pediatric neuromuscular diseases in Hacettepe University Institute of Health Sciences between 2017 and 2019. I have been working as a fellow in MRC International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) since August, 2019. I am a second year Medical Genetics PhD student at Medical Faculty of Akdeniz University. Also, I am an Associate Professor of Pediatric Neurology until June 2022.

What is your current research project and why is this important?

This project aims to elucidate the phenotype-genotype relations in pediatric and adult patients diagnosed with mitochondrial aminoacyl tRNA synthetase gene defects. A large group of pediatric and adult patients (n:20) with mitochondrial aminoacyl tRNA synthetase enzyme gene defect will be formed. Deep phenotyping and molecular genetic results of the patients will be compiled within the scope of the thesis project. After this stage, targets for functional studies will be determined according to the gene pool.

What are you most passionate about within this field?

The phenotypical diversity caused by gene-mediated pathophysiological mechanisms in neuromuscular diseases is incredible. The deficiency in binding of one or two sugar molecules to a single protein in a cell can cause a teenager who gets tired easily or a child with learning difficulties, who is immobile and highly dependent on care-givers. As a clinician, it is impossible not to be curious about the origins of such disorders. For these reasons, I want to obtain a better understanding about these diseases and their molecular, cellular and genetic causes, in the context of “molecular biology and genetics” education.

How has the ICGMND Fellowship supported your research and career development so far?

My curiosity about the genomic or non-genomic cellular defects underlying diseases began in the first days of my medical education and gradually evolved into a desire to learn about the fundamental pathophysiologic mechanisms and to provide the optimal management and treatment as I became a pediatrician. When I started Pediatric Neurology, my second specialty, I witnessed genome associated molecular and cellular defects causing an unbelievable variety of diseases.

As a clinician, when I was face to face with a diverse patient population, I decided that I would not be able to become a medical doctor who could play a role in the development of biomarkers that could aid in diagnosis or be a part of identification of the molecules that could be utilized in the treatment without understanding mechanisms which cause diseases at the cellular, molecular and genomic levels. This motivation led to a desire of education in molecular biology and genetics. I believe that a fundamental understanding of the cell and the gene structure is essential to have a positive impact on medicine. The ICGNMD fellowship program plays a very important role in stimulating and satisfying this curiosity. In addition to its educational aspect, it provides an environment where international views are taken and many different neuromuscular diseases are discussed. The number of physicians specializing in pediatric neuromuscular diseases and genetics in Turkey is quite low compared to the population. It is hoped the ICGNMD will help to address this in the longer term.

What are you looking forward to most about attending the WMS2022 Congress?

I aim to learn the pathology of new or newly discovered diseases, new treatment modalities (mainly gene therapies), current clinical and preclinical studies, and to get to know other international researchers.

How does being part of a global research community support your work?

I was working as a pediatric neurology specialist medical doctor in a setting where 60-80% of the patients have neurogenetic/ neuromuscular diseases. Pediatric neuromuscular diseases, which I am working to specialize on, are the prime example for neurogenetic diseases. Unfortunately, these so-called rare diseases are not rare in our country.  For this reason, international connections in the field of genetic neuromuscular diseases also bring diagnostic support. 

What excites you about the future of your field of research?

I believe that a fundamental understanding of the cell and the gene structure would have a positive impact on the rare disease medical profession. It seems that the future is genes and gene therapies.