Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He is now the Chief Executive Officer of Uncommon Cures, LLC, a rare disease clinical trials company. He founded and led the Rare Disease Institute at Children’s National in Washington D.C.. He has developed new drugs for sickle cell anemia, congenital heart disease, and neonatal lung disease. He is the past-board chairman of the National Organization for Rare Disorders where he helped establish the Clinical Centers of Excellence Program and IAMRARE natural history program. He also developed the international rare disease clinical treatment protocols program, RareCap. He has organized and is a part of a number international work groups and has numerous board positions. In 2022, he was awarded NORD’s Lifetime Achievement Award for his work in rare disease.

Current Position: Professor of Neurology and Director, Neuromuscular Center, Neuropsychiatry Department, Faculty of Medicine, Ain Shams University. Main interests are neuromuscular disorders, neurogenetic disorders, and rare diseases. - Prof. Nagia Fahmy, in 1996, traveled to the National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan, through an individual grant from the Japan International Cooperation Agency (JICA). She received training for her doctorate thesis in neurology and shared in the establishment of the Neuromuscular Unit, Faculty of Medicine, Ain Shams University. - The Neuromuscular Unit is considered the only specialized and comprehensive unit for neuromuscular disorders in Egypt. It was established in 1996 with the collaboration of the NCNP in Tokyo, Japan, and contains two laboratories of histochemistry, immunohistochemistry of muscle biopsies, and molecular diagnosis of some neuromuscular disorders. It also contains a biobank of muscle biopsies and the DNA of patients with neuromuscular disorders. - She is running two special myology clinics in Ain Shams University Hospitals with 60–80 patients with neuromuscular disorders weekly in both clinics. She was also the director of the three neurology units in Ain Shams University Specialized Hospital (ASUSH), the Neurocritical Care Unit for one year (2006), the Neurology Unit for two years (2007–2008), and the Stroke Unit for one year (2010–2011). She is the founder of the “Egyptian School of Neuromuscular Disorders" (2019), a yearly postgraduate school teaching neuromuscular disorders to postgraduate students of different universities and research centers. In the first school year of 2019, there were six international professors from France, Finland, and Germany who shared the teaching with the Egyptian professors. Seventy-five trainees attended the first school, which lasted for 3 days, followed by an Egyptian International Conference of Neuromuscular Disorders, 2019, for 2 days. She shared in the establishment of the “School of Motor Neuron Disorders” at the German University of Cairo (GUC, 2019), a regional and international school. - She is the general secretary of the yearly conference of the Neurology Department, Faculty of Medicine, Ain Shams University. - She started international collaboration with many universities and centers abroad. • NCNP, Tokyo, Japan. Egypt-Japan Workshop, every other year with Prof. Ikuya Nonaka • Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDs, Bethesda, USA (arranged workshop with Prof. Carsten Bonnemanne, 2013) • Neuromuscular Center, Tampere University, Finland. Finland-Egypt workshop (2015–2019, with Prof. Bjarne Udd) • John Walton Muscular Dystrophy Research Centre, Newcastle University, UK. • Neurology Department, University of Versailles-Saint-Quentin, France • Summer School of Myology, Paris, France • Neurology Department, Ulm University, Germany. She started a national research collaboration with the American University in Cairo in 2017 and the German University in Cairo in 2019. She is the Director of the Neuromucular Chapter of the Egyptian Society of Neurology, Neurosurgery, and Psychiatry (ESNPN). She is a member of many national and international organizations, including: Member of the World Muscle Society, Member of the Mediterranean Society of Myology, Member of Treat-NMD, an International Registry Organization, and Member of the Pan Arab Union of Neurology. - She is also a reviewer of the Ethical Committee, Faculty of Medicine, Ain Shams University; a reviewer of the Egyptian Journal of Neurology, Psychiatry, and Neurosurgery (EJNPN); a reviewer of the Journal of Neurosciences, the official journal of the Pan-Arab Union of Neurological Sciences; and a reviewer of the European Neurology Journal. - She is supervising many projects and master and doctorate degree theses in the field of neuromuscular and neurogenetic disorders. - She has many national and international publications, mainly in the field of neuromuscular and neurogenetic disorders. - She was awarded the title of ideal doctor by the Egyptian Medical Syndicate in 2016 for establishing and directing the Ain Shams Neuromuscular Center, a multidsicplinary center for the diagnosis and management of neuromuscular disorders, in 2024.

Shakir is a specialist in clinical as well as molecular genetics. He is also a board certified clinical and anatomical pathologist. He achieved his MBBS from Kuwait University and went on to AP/CP at University of Saskatchewan, Canada, and then genetics at McMaster University, Ontario, Canada. He is currently working at the Kuwait Medical Genetics Center running a general, hemato-, and cancer genetics clinics and the unit head of the Molecular Pathology lab at Kuwait Cancer Control Center, Ministry of Health, State of Kuwait. He is a tutor and board member of the Kuwait Institute of Medical Specializations’ Pediatrics, Pathology, and Clinical Chemistry residency programs.

Guillaume Canaud is a MD, PhD working at hôpital Necker Enfants Malades (Paris). He did his medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). He became Senior Resident in the Renal Division of Necker (Prof. Legendre) from 2007 to 2012. Concurrently, he spent four years from to 2008 to 2012 in the laboratory of Dr. Fabiola Terzi (INSERM U1151, Necker Hospital) to achieve his PhD degree in molecular and cellular biology. Then, he joined the Joseph Bonventre’s Laboratory (Harvard Medical School, Boston, USA) from 2012 to 2014 to achieve a postdoc. He came back to Christophe Legendre’s team with a faculty position (Associate Professor) and built his own group of research dedicated to translational medicine. He obtained an European Research Council starting grant (2015) for his kidney research project, an ERC Proof of Concept Grant for his translational research (2016) and an ERC Consolidator (2020) dedicated to the understanding of PIK3CA related disorders. Guillaume is now full professor at the Université Paris Cité /Hôpital Necker Enfants Malades and is working specifically on rare disorders involving the RAS/PIK3CA/AKT/mTOR pathways. He has created the Translational Medicine and Targeted Therapies Unit at Necker Enfants Malades.
Very recently, Guillaume and his group, identified and reported in Nature a very promising therapeutic for patients with a rare genetic disorder called PIK3CA-Related Overgrowth Syndrome (PROS). Guillaume and his group pushed the clinical development of this drug for patient with PROS. Three clinical trials were launched since 2019 and led to the US FDA accelerated approval on April 6th 2022 of alpelisib for patients with PROS aged of at least 2 years old.
He published as a first or last author in leading medical and scientific journals such as Nature, The New England Journal of Medicine, Nature Medicine, J Exp Med, Science Translational Medicine or Proceedings of the National Academy of Sciences USA. He received several awards including the 2018 Prize Jean Lecocq of the French Academy of Sciences, the 2019 Prize Eloi Collery of the French Academy of Medicine, the 2019 Ville de Paris Jean Hamburger Prize, the 2021 Unsolicited International Triennial Gagna A. & Ch. Van Heck Prize for Incurable Diseases, the 2022 Robert Schobinger Award from the International Society for the Study of Vascular Anomalies and the Prix Galien 2022.

Doctor Alaa Eldin Abdel Hakeim Elshafey is a consultant of clinical molecular genetics at Kuwait Medical Genetic center (KMGC) and a former associate professor of medical genetics in Egypt. He graduated from the faculty of medicine and finished his training in pediatrics where he got master degree in pediatrics from Egypt. He got his PhD in clinical molecular genetics from the faculty of medicine, the university of Glasgow, UK. He worked as a university member in the pediatric departments in Egyptian universities till 2003. He joined KMGC in the year 2003 till now. He is one of the members who developed the molecular genetic laboratories at KMGC. Now, these laboratories are the leading diagnostic genetic laboratories in Kuwait. He established the prenatal diagnostic and bioinformatic analysis units. He is responsible for NGS-database at KMGC. He is involved in establishing premarital and newborn screening programs for spinal muscular atrophy (SMA). He got many publications in pediatrics and clinical molecular genetics.

J. Andoni URTIZBEREA, aged 65, is a French physician trained in Paris University, France and certified both in pediatrics and PMR. He served many years as Medical Director of the AFM-Telethon and then as General Delegate of the Institut de Myologie of Paris (1993-2000). While Scientific Director of the European Neuromuscular Center in the Netherlands (ENMC, 1999-2005), he contributed to the establishment of many global networks in myology. Till December 2019, he worked as part-time clinical myologist in Hendaye Hospital, France (APHP trust) and served as deputy coordinator of the French Neuromuscular Network (FILNEMUS). Over the past twenty years, he headed various worldwide educational events dedicated to myology (in Europe, Russia, Latin America and, more recently in the Middle-East). He is currently a faculty in charge of the Summer of Myology of Paris. He is a regular visiting professor in a couple of countries and a self-employed consultant for several pharma.

Gianluca Esposito, Ph.D., Chair of the Ph.D. Program in Cognitive Science at the University of Trento, Italy and visiting professor at the University of Hertfordshire, UK, specializes in developmental clinical psychology and neuroimaging, focusing on child socio-cognitive development. With more than 250 peer-reviewed papers, 22 book chapters, and 3 co-edited books, he brings multidisciplinary expertise to understanding autism and genetics.

Prof. Alfadhel is currently Deputy Executive Director of King Abdullah International Medical Research Centre (KAIMRC), Chairman of Genetics and Precision Medicine department at King Abdulaziz Medical City, Riyadh, Saudi Arabia, Director of Medical Genomic lab at King Abdullah International Medical Research Centre (KAIMRC), and Professor of Pediatrics and Genetics at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS).
Additionally, he is founder and editor in chief of Journal of Biochemical and Clinical Genetics, Editorial board member of International Journal of Health Sciences, Editorial board member of the Journal of Nature and Science of Medicine (JNSM), Editorial board member of BMC Medical Genomics and Journal of Pediatric Genetics. Authors of 3 books and one chapter in a book and editorial board member of several international journals. Has more than 200 publications in high impact factor journals and more than 200 abstracts. He is supervisor and teachers for plenty of fellows, residents and medical students.
He was successful in contribution in discovery of 70 novel genes specifically for disorders involving the brain. In addition, he discovered a syndrome with dysmorphic features, intellectual disability, and speech delay, which named Alfadhel syndrome by the OMIM database, the official website for all genetic disorders.
Prof. Alfadhel’s foresight and passion for innovation, earned him an award for inventing a new application in the Apple store and Goggle play for the treatment of inborn errors of metabolism (IEM Drugs).

Tarek Mostafa Kamal
(M.D. Human Medical Genetics)
• Clinical and Medical Geneticist (Kuwait Medical Genetics Centre - Kuwait)
• Consultant Professor (Ain Shams University Hospitals- Egypt)
• Shared as a member of the committee for implementation of the national programs for Genetics, congenital anomaly registry, and premarital counseling-UAE.
• Handling editor and Reviewer for the Egyptian Journal of Medical Human Genetics- Springer Nature.
• Supervised many master and MD theses and has many internationally published researches in the field of Human Genetics and Pediatrics.

Dr. Alfares completed his medical school in Saudi Arabia and joined the medical genetics residency program at McGill University, Canada (Royal College of Physicians and Surgeons). Subsequently he joined Harvard Medical School and completed two fellowships training in Clinical Molecular Genetics and Clinical Biochemical Genetics. Dr. Alfares currently working as deputy executive director and a senior consultant at King Faisal Specialist Hospital and Research Center, Centre for Genomic Medicine. He is working on next-generation molecular genetics sequencing lab including large numbers of exome and genome testing.

Dr. Doaa Ibrahim consultant clinical genetics Kuwait Medical Genetic center and faculty of of medicine Ain Shams university, Egypt.
She graduated from the faculty of medicine Ain Shams university with very good honor degree. She got Master degree and Medical Doctorate degree of Medical Genetic (MD) from Ain Shams university, moreover got a certificate of scientific excellence from Ain shams university.
In 2011 she joined the Kuwait Medical Genetic team. She is a member of many societies as the board of directors of the Egyptian society of human genetics, Egyptian scientific society of human teratology and Egyptian society of friends of families of genetics diseases. In addition to she was associate editor of Egyptian journal of medical human genetics. Dr Doaa also got many publications in clinical genetics in international journals which got 250 citations. She shared in many international and national conferences of medical genetics.

Professor Sherif El-Khamisy is a ‘life’-scientist with over 25 years’ experience in the research and innovation ecosystem, focusing on translation and commercialisation. He is trained as a pharmacist followed by a PhD in genomic medicine from the University of Sussex, then a post-doctoral training at St Jude Hospital in the US. Working with the Nobel Laureate Dr Zewail in Caltech, Sherif established and directed one of the first medical genomics research centres in the MENA region. In 2018, Sherif co-founded the healthy Lifespan Institute at the University of Sheffield. In addition to his roles at the University of Sheffield, Sherif is the Director of the Institute of Cancer Therapeutics and Dean of Research at the University of Bradford. Sherif’s core technical background is in genomic medicine with a broader economic focus through working with senior executives and stakeholders. He is a Wellcome Trust Investigator, a Fellow of the Lister Institute of Preventative Medicine and sits on UKRI and Wellcome Trust funding panels. His work in biology and medicine is published in journals such as Nature, Cell and Science. He is an elected Fellow of the Royal Society of Biology, the Royal Society of Chemistry, and his work has been recognized by AstraZeneca (UK), Caltech (USA), Awards of Excellence in Medical Sciences from the Shoman Foundation (Jordon), the Academy of Medical Sciences (Egypt) and the Wellcome Trust (UK).

Fowzan S Alkuraya is a Professor of Human Genetics at Alfaisal University and the Chairman of the Department of Translational Genomics at King Faisal Specialist Hospital and Research Center. He joined medical school (King Saud University) before turning 15 and graduated first in his class with first class honor. He did his pediatric residency at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School. He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School. He returned to his native Saudi Arabia to establish the Developmental Genetics Lab, which later evolved into the Center for Genomic Medicine at KFSHRC. He is an authority in the area of Mendelian genetics with more than 560 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans as well as many other seminal contributions to the field of human genetics as featured in profiles published by The Lancet and Science. He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics (first non-US based winner), King Salman Award for Disability Research, ASHG Curt Stern Award (first non-US based winner), and Kuwait Award.

Dr. Arti Nanda has 30 years of experience in Pediatric Dermatology. She is Secretary General of the International Society of Pediatric Dermatology (ISPD) since 2021 (https://www.ispedderm.com/). She is also an Executive Board Director, Chair of the Communication Committee & Chief Editor, Online Education of the ISPD since 2017.
She is a member of the EADV Task Force, Pediatric Dermatology & Autoimmune Blistering Disorders, a Member of the Editorial Board of the Pediatric Dermatology Journal, and a member of the Editorial Advisory Board of the IJDVL; IDOJ; IJPD journals. She has published more than 160 research papers in Peer Reviewed Journals.
She has been an invited Speaker/Chair or Co-chair in the International/National Conferences in Dermatology/Pediatric Dermatology since 2003.
In recognition of her achievements, she was honored to be the recipient of the 2022 ILDS (International League of Dermatology Societies) Certificate of Appreciation for her international Leadership in Pediatric Dermatology.

Dr. Al-Saffar completed her medical residency in Kuwait and had the opportunity to receive intensive training in clinical and basic research in immunogenetics at Kuwait University that led her to explore how to become a clinical scientist through lab work in histocompatibility and affiliation with Dana Farber Cancer Center in Boston. In 2000, she attained her Master degree in genetic counselling (GC) from McGill University and became a member of the Board certified genetic counsellors network. Dr. Al Saffar has more than 35 years of clinical and research experience through her work in several countries including Iraq, Kuwait, UAE, Canada, and the Kingdom of Saudi Arabia. She had been affiliated scientist with Boston Children’s Hospital (BCH) since 2007 conducting medical research in rare genetic conditions that resulted in significant publications in Nature, Cell, AJHG and Neuron. Her publications reflect her interests in the field of neurogenetics, hereditary cancer genetics, immunigenetics, and genetic counselling., Dr. Al Saffar continues to lead efforts towards expanding genetic literacy. She is currently the Program Director for Genetic Counseling at the UAE University. She maintains several active professional memberships like the Canadian Association of Genetic Counsellors (CAGC), American Society of Human Genetics (ASHG), and the Association of Genetic Counseling Program Director (AGCPD).

Dr. AlKhaledi is a pediatric pulmonary and sleep medicine consultant leading the Pediatric Pulmonary and Sleep Medicine Unit at Al-Sabah Hospital. Dr. AlKhaledi is a graduate of Kuwait University and completed his general pediatric residency at Freie Universität Berlin in 2010. He further pursued his fellowship in pediatric pulmonary medicine in 2013, followed by a fellowship in sleep medicine in 2017, at the a University of Alberta, Canada. Dr. AlKhaledi's expertise lies in the diagnosis and management of respiratory and sleep disorders in children.

Dr. Chatterjee is a Bloomberg Distinguished Professor at the Department of Biostatistics, Bloomberg School of Public Health, and Department of Oncology School of Medicine at the Johns Hopkins University. Before joining Johns Hopkins, he led the Biostatistics Branch of the Division of Cancer Epidemiology and Genetics of the US National Cancer Institute during 2008-2015. He is known for foundational and methodological contributions to multiple areas of modern biomedical data science, including large-scale analysis of genetic associations, gene-environment interactions, and predictive model building by synthesis of information from various data sources. He has received numerous prestigious national and international awards, including the celebrated Committee of the Presidents of Statistical Societies (COPSS) President’s Award. He is an elected Fellow of the American Statistical Association and American Epidemiological Society. He serves on the scientific advisory committee of the Radiation Effect Research Foundation, Hiroshima, Japan and the Population and Prevention Research Committee of the foundation of Cancer Research UK.

Dr. Posey is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. Her research interests lie in the relationship between genomic variation and clinical (phenotypic) expression and how this can be leveraged to develop individualized treatment approaches. Dr. Posey leads the Baylor College of Medicine Genomic Research to Elucidate the Genetics of Rare (BCM-GREGoR) research program which is part of a US National Institutes of Health-funded Consortium. As a physician scientist and a medical and human geneticist, her ultimate goal is to be able to translate our understanding of the relationship between an individual’s genotype and phenotype, or disease trait, into actionable and treatable information in the clinic.

Dr Maria AlMahdi is a Pediatric Endocrinologist working at Al-Adan Hospital , she is the head of the Endocrine and Diabetes Unit.
Working also in Dasman Diabetes Institute.
Graduated from Arabian Gulf University, Kingdom of Bahrain
She obtained the Membership of the Royal Collage of Paediatrics & Child health ( MRCPCH) and the Paediatric Kuwaiti Training Program Board. Completed Paediatric Endocrine & Diabetes Fellowship Program at National Guard Hospital , Riyadh - KSA
Previous Vice President of Kuwait Diabetes Society ( KDS )
Head of Disorder of Sexual Development committee
She had interest in DSD, bone disorders.
Participated as a speaker in several local and regional conferences and workshops.

Has several publications on Type 1 Diabetes in Children.

Dr Melita Irving trained in paediatrics before joining the clinical genetics department at Guy's and St Thomas'. She undertook a fellowship in skeletal dysplasia at the Royal Children's Hospital, Melbourne and has since established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia at the Evelina London Children's Hospital. She is chief investigator for a number of clinical trials in achondroplasia and a proponent of embedding clinical research synergistically within clinical service.

Dr. Alkharafi obtained her dental degree from Kuwait University, Faculty of Dentistry in 2009. She then completed a one-year research program in craniofacial genetics and stem cells at the University of the Pacific,USA in 2012. In 2015, Dr. Alkharafi earned her Master of Science in Dentistry and a Certificate in Orthodontics from the University of the Pacific. She became a Diplomate of the American Board of Orthodontics in 2016. In 2021, she completed a fellowship in Craniofacial and Special Care Orthodontics at the University of California, San Francisco. Dr. Alkharafi became an International Certificant of the American Board of Dental Sleep Medicine in 2023.

Dr Wafik works as a Clinical Geneticist at Guys Hospital (London, United Kingdom). He has over 10 years experience in medical genetics and laboratory genomics, including a 6-year experience working as a clinical genetics registrar in Oxford and London (Guys and St. Georges Hospitals). He trained in Paediatric and Neonatal Medicine at the Royal Manchester Childrens Hospital. He holds both the UK and European certification and accreditation in Medical Genetics and Genomics (DipRCPath and ECMGG respectively). He also has a postgraduate certificate (PGCert) in the Interpretation and Clinical Application of Genomic Data (St Georges University of London), membership of the Royal College of Paediatrics and Child Health (MRCPCH), and Master of Science (MSc) in Medical Genetics (University of Glasgow) with a distinction award. His interests include: Genetics and dysmorphology, prenatal diagnosis and fetal dysmorphology, Genetics of complex disease. Inherited Cardiac Conditions, clinical applications of Next-Generation Sequencing, and novel therapies for Genetic diseases.

Dr Reem Elshafie is a Clinical Geneticist who graduated from the faculty of medicine, Alexandria University, Egypt. She specializes in clinical and molecular genetics. Obtained MSc in human genetics with solid knowledge in genomic and molecular pathology from Medical Research Institute Alexandria University, Egypt. She Analyzes NGS data and evaluates patients with genetic disorders and has extensive experience in clinical and molecular genetics and karyotyping as well.

Dr. Nahed Alateeqi is a Consultant Developmental Pediatrician and a Fellow of the Royal College of Physicians of Canada. She is currently the Chair of the Developmental Pediatrics Unit at the Pediatric Department in Al-Sabah Hospital, Kuwait. Dr. Alateeqi is a former Program Director for the
Developmental Behavioral Pediatrics Fellowship Program at Sidra Medicine in Qatar.
Dr. Alateeqi is passionate about teaching and raising awareness on child development and
disability. She is a mentor and tutor to Pediatric Residents of the Kuwait Board of Pediatrics.
She has participated in many workshops and teaching activities for medical professionals,
educators and parents related to child development and developmental disorders in Kuwait and the GCC. Dr. Alateeqi is the author of an Arabic book titled “Together I Learn” emphasizing the importance of responsive parenting in neurodevelopment and promoting interaction between the child and their caregiver.