Prof. Christian Schaaf
- Professor Schaaf is the medical director and department chair of the Institute of Human Genetics at the University of Heidelberg. He studies the genetic causes of neurodevelopmental and neuropsychiatric disorders. His work led to the discovery of multiple new disease genes, and three disorders have been named after him: Schaaf-Yang syndrome, Bosch-Boonstra-Schaaf Optic Atrophy syndrome, and Marbach-Schaaf Neurodevelopmental syndrome.
- Professor Schaaf’s groundbreaking work has been recognized with many awards, including the William K. Bowes Award for Medical Genetics by Partners Healthcare and Harvard Medical School and the inaugural Seldin-Smith Award for Pioneering Research by the American Society for Clinical Investigation. Prof. Schaaf has authored four books, including a major textbook of medical genetics that has been translated into several languages. Professor Schaaf is the president of the German Academy for Human Genetics.
Germany
Dr. Eman Elrefaei
- Eman Elrefaei is a medical scientist with a focus on translational medicine for neuromuscular disorders. She earned her Bachelor's degree in Medicine and Surgery with excellent grades from Tanta University, Egypt, and later completed her PhD in Medical Biochemistry from Osaka University, Faculty of Medicine. Dr. Elrefaei is currently a trainee at the National Cerebral and Cardiovascular Center in Osaka, Japan. In addition, she serves as an Assistant Lecturer in the Medical Biochemistry Department at the Faculty of Medicine, Tanta University, Egypt. Her research is dedicated to advancing the understanding and treatment of neuromuscular disorders, bridging the gap between laboratory research and clinical application.
Egypt
Dr. Hadi Manji MA MD FRCP
- Dr Manji is Senior Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London and Associate Professor at University College London.
- He is a past President of the Neurosciences Section of the Royal Society of Medicine and is currently Chairman of the Medical Committee at Queen Square.
In 2022 , he was awarded the Association of British Neurologists (ABN) Medal for services to National and International Neurology. This year he was awarded the GG2 Leadership and Diversity Award for Outstanding Achievement in Medicine.
- Dr Manji has a specialist interest in interest is Peripheral nerve disorders, and he currently works at the MRC Centre for Neuromuscular Diseases at the National Hospital. Hs is joint editor of neuromuscular disease: Case studies from Queen Square. His other neurological interests are Neuro -infectious disorders including HIV and now COVID-19.
- Teaching both under and postgraduates remains an important aspect of his role – he has co-authored the Neurology chapter in MacLeod’s Clinical Examination for undergraduate students. He is the Senior author and editor of the Oxford Handbook of Neurology – the 3rd edition is now in preparation.
United Kingdom
Prof. Haydar Hamza
- Head of Authority of Health & medical education, Iraq
CEO of Warth Institute, Iraq
High drug selection committee member, and Pharmaceutical political committee member Iraq.
- Head of department of radiotherapy, Baghdad University
Secretory general of Iraqi cancer board
Advisory committee member for radiotherapy / MOH
National organizer with International Atomic Energy Agenc; IAEA for developing radiotherapy services in Iraq.
- Dr Manji has a specialist interest in interest is Peripheral nerve disorders, and he currently works at the MRC Centre for Neuromuscular Diseases at the National Hospital. Hs is joint editor of neuromuscular disease: Case studies from Queen Square. His other neurological interests are Neuro -infectious disorders including HIV and now COVID-19.
- Teaching both under and postgraduates remains an important aspect of his role – he has co-authored the Neurology chapter in MacLeod’s Clinical Examination for undergraduate students. He is the Senior author and editor of the Oxford Handbook of Neurology – the 3rd edition is now in preparation.
Iraq
Dr. Ichizo Nishino
- Dr. Ichizo Nishino is the Director of the Department of Neuromuscular Research at the National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
- He obtained his M.D. in 1989 and Ph.D. in 1998 from Kyoto University, followed by post-doctoral training, including two years at Columbia University.
- Dr. Nishino has made significant contributions to muscle disease research, identifying several causative genes, such as those for Danon disease, MNGIE, and megaconial congenital muscular dystrophy, and developing therapies for conditions like GNE myopathy.
- His lab, a national referral center, has analyzed over 25,000 muscle biopsies. With over 700 publications on PubMed, he also serves internationally as a Visiting/Guest Professor at seven universities and is currently the President of the Asian-Oceanian Myology Center (AOMC).
- He holds executive roles in various neuromuscular societies, including the World Muscle Society.
Japan
Dr. Rui Shimazaki
- Dr. Rui Shimazaki is a research fellow in the Department of Neuromuscular Research at the National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), headed by Dr. Ichizo Nishino. He earned his M.D. from Kyorin University in 2016. After completing a two-year residency, he spent four years working as a neurologist before being appointed to his current position at NCNP in 2022.
- Dr. Shimazaki specializes in hereditary muscle diseases, including muscular dystrophies, and has been involved in pathological and genetic diagnoses on more than 200 cases in the current department. His research primarily focuses on elucidating the mechanisms of muscle diseases due to RNA splicing abnormalities. Additionally, he has a keen interest in developing prediction tools to identify novel causative genes.
Japan
Dr. Saleh Salman Kadhim
- CEO of Al-Hadi Neuromuscular center, Authority of Health and Medical Education, Holy Shrine of Imam Hussain.
- PhD degree in Biomedical sciences (Histology and Human development), Reading University, UK. Master’s degree in Histology and Embryology (College of Medicine, Al-Nahrain University, Iraq).
- My discipline is investigating potential of Estrogen Related Receptor, orphan nuclear receptor to rescue the functional deficits of Myostatin null hypertrophy skeletal muscle through metabolic reprograming, thereby producing large and strong muscle fibers. I have long experience in Lab. Muscle force measurement, Assessment of skeletal muscle's stem cells (Satellite cells) number, activity and migration speed, Myonuclei number and distribution, tissue sample freezing, mounting and cryo-sectioning, Sample fixation for Electron microscope work, Immunohistochemistry, Immunocytochemistry, determination of muscle degeneration-regeneration cycle, Tissue necrosis level, Macrophages density, Succinate dehydrogenase staining (SDH) activity, Periodic Acid Schiff Reagent staining (PAS), Molecular biology (qPCR), Western blotting, Nuclear Magnetic Resonance (NMR), Applying a therapeutic approach that would impart large and functional muscle during postnatal life, Using different versions of Tricyclo-DNA (tc-DNA) in order to induce Dystrophin expression level thus preclude muscle wasting in patients with different types of muscle atrophy.
- Academic work, I’ve worked as a lecturer in the University of Wasit, Iraq from 2006 to present, Invigilation and Demonstration at Reading university, Building blocks of life module.
Iraq
Dr. Linda Lowes
- Dr Lowes is a research scientist and physical therapist, whose professional mission is to conduct translational research advancing the development of therapeutics for rare diseases. She helps design and facilitate definitive clinical trial results by providing longitudinal natural history data on rare neuromuscular disorders (NMD). This generates data-driven decisions on study design and evidence-based care guidelines to improve a patients’ wellbeing.
- Her expertise in functional outcome measure development for rare neuromuscular disorders directly to the first Food and Drug Administration (FDA) approved treatment for Duchenne Muscular Dystrophy (DMD), Eteplirsen. She also played an integral role in designing and conducting eight additional first-in-human GT trials. Two of these trials have already lead to approved treatments: Zolgensma for spinal muscular atrophy (SMA) type 1 and Elevidys for Duchenne Muscular Dystrophy.
- She prides herself on having mentored a team of exceptional research physical therapist.
United States
