MEGMA

Prof. Sylvia Stockler

Prof. Sylvia Stockler is an Investigator and Clinical Biochemical Geneticist at BC Children Hospital and Professor of Pediatrics at the University of British Columbia. Her research focuses on the pathobiochemistry of genetic neurometabolic diseases, using integrated clinical, biochemical, molecular genetic, magnetic resonance spectroscopy, and imaging approaches. Her work includes creatine deficiency syndromes and disorders of energy-substrate depletion in the developing brain, such as fatty-acid oxidation defects and persistent hyperinsulinemic hypoglycemia. Her overarching goal is to develop improved treatment strategies for these and other metabolic brain diseases.

Prof. Cristina Has

Prof. Dr. med. Cristina Has is a Professor of Experimental Dermatology and senior dermatologist at University Medical Center Freiburg, where she heads the Molecular Dermatology Laboratory and the Genodermatoses Clinic. She is an internationally recognized expert in the genetic basis and molecular mechanisms of skin fragility. Her clinical and research work focuses particularly on rare inherited conditions, including epidermolysis bullosa and epidermolytic ichthyosis.

Prof. Simon Jones

Prof. Simon Jones is Professor of Musculoskeletal Ageing in the Department of Inflammation and Ageing. His research investigates the inflammatory and metabolic mechanisms underlying joint and musculoskeletal disorders, including osteoarthritis, sarcopenia, type 2 diabetes, and scoliosis. He has a particular interest in the role of non-coding RNAs, including microRNAs and long non-coding RNAs, in inflammatory responses and in understanding how obesity influences diseased joint and musculoskeletal tissues.

Prof. Christina Lampe

Prof. Christina Lampe is a consultant surgeon and rare-disease specialist with extensive experience in mucopolysaccharidoses (MPS). Since 2007, she has worked with pediatric and adult patients with MPS I, II, IV, and VI, including at Villa Metabolica, University Medical Center Mainz. In 2014, she co-established a Center for Rare Diseases at the Dr. Horst Schmidt Clinic in Wiesbaden. She has served as a clinical investigator in MPS studies, contributed to European recommendations on MPS II diagnosis and multidisciplinary management, and co-authored MPS guidelines. Her clinical and research interests include craniocervical complications, spinal and joint manifestations, and customized orthopedic supports for skeletal disease.

Prof. Majid Alfadhel

Chairman, Genetics & Precision Medicine | Professor of Medical Genetics, KSAU-HS | Deputy ExecutiveDirector, KAIMRC

Prof. Majid Alfadhel is Chairman of the Genetics and Precision Medicine Department at King Abdullah Specialized Childrenas Hospital in Riyadh and Professor of Medical Genetics at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS). He also serves as Deputy Executive Director of King Abdullah International Medical Research Centre (KAIMRC) and Director of its Medical Genomic Research Laboratory. Internationally recognized for his contributions to medical genetics and precision medicine, he received the 2024 Foundersâ Award for Career Achievement from the Canadian College of Medical Geneticists. Two disorders”Alfadhel Syndrome and Umair-Alfadhel Neurodevelopmental Disorderâ are named after him in the OMIM database.

Prof. Amal Alhashem

Prof. Amal AlHashem is a Genetic and Metabolic Consultant and Chairperson of the Department of Genetic and Metabolic Medicine at King Fahad Specialist Hospital in Dammam. She is Professor of Genetics at Alfaisal University and Head of the Genetic Department at Seha Virtual Hospital. She also chairs the Scientific Committee for the Birth Defect Registry at the Saudi Health Council, contributing to national genetics and birth-defect surveillance initiatives.

Prof. Malak Alghamdi

Head, Medical Genetics Division | Senior Medical Genetics Consultant and Associate Professor, King Saud University

Prof. Malak Alghamdi is Head of the Medical Genetics Division at King Khalid University
Hospital and a Senior Medical Genetics Consultant and Associate Professor at King Saud
University. She holds an MD from King Saud University, Arab and Saudi Board certifications in
Pediatrics, and Medical Genetics board certification (FCCMG, Canada). Following fellowship
training in Clinical Biochemical Genetics at BC Childrenâ€™s Hospital, she established the
clinical and academic Medical Genetics Division at KSUMC, with a focus on neurogenetic
disorders and inborn errors of metabolism. Her work also includes research, education, and
mentoring for future genetics professionals in Saudi Arabia.

Prof. Fuad Almutairi

Senior Medical Genetics Consultant | Associate Professor of Pediatrics | Genetics & Precision Medicine Department, KASCH

Prof. Fuad Almutairi is a Senior Medical Genetics Consultant and Associate Professor of Pediatrics in the Genetics and Precision Medicine Department at King Abdullah Specialized Childrenâ€™s Hospital, affiliated with King Saud bin Abdulaziz University for Health Sciences in Riyadh. He earned his MBBS from King Saud University, completed his Pediatrics Residency at Prince Sultan Military Medical City, and undertook fellowship training in Biochemical Genetics at the University of British Columbia. He chairs the National Medical Genetics Fellowship Program at the Saudi Commission for Health Specialties and serves on the Board of Directors of the Saudi Society of Medical Genetics. His research interests include neurogenetic disorders, inborn errors of metabolism, and novel disease-gene discovery.

Prof. Zuhair Al-Hassnan

Consultant, Medical Genomics | Professor, Alfaisal University | Scientist, Translational Genomics, KFSH&RC

Prof. Zuhair Al-Hassnan is a medical geneticist, Professor at Alfaisal University, and Consultant in the Department of Medical Genomics at King Faisal Specialist Hospital & Research Centre. He completed fellowship training in Medical Genetics at Johns Hopkins University and holds multiple board certifications in clinical biochemical and molecular genetics. His expertise spans clinical genomics, newborn screening, and rare genetic disorders. He leads national and international research initiatives and contributes to policy development and ethics in genomic medicine, with numerous awards recognizing his genetic research and clinical innovation.

Prof. Moeenaldeen AlSayed

Professor of Medical Genetics, Alfaisal University | Senior Medical Genetics Consultant, KFSH&RC

Prof. Moeenaldeen AlSayed is a Professor of Medical Genetics at Alfaisal University and Senior Medical Genetics Consultant at King Faisal Specialist Hospital & Research Centre in Riyadh. He founded and directs the MSc Genetic Counseling Program at Alfaisal University and established dedicated Adult Genetics, Metabolic Diseases, and Genetic Counseling services at King Faisal. Trained at Yaleâ€“New Haven Childrenâ€™s Hospital and Baylor College of Medicine, he also holds an MBA from the University of Tennessee. His expertise includes lysosomal storage diseases, organic acidurias, and founder mutations in the Saudi population, and he is an active advisor and speaker in rare genetic disease initiatives.

Prof. Tawfeg Ben-Omran

Division Chief, Genetic & Genomic Medicine, Sidra Medicine | Senior Consultant, HMC | Professor, Weill Cornell Medicine Qatar

Prof. Tawfeg Ben-Omran is a Senior Clinical and Metabolic Genetics Consultant at Hamad Medical Corporation and a Professor at Weill Cornell Medicine Qatar. He is also a Distinguished Visiting Scientist at Boston Childrenâ€™s Hospital. He trained in clinical and metabolic genetics at the Hospital for Sick Children, University of Toronto, and holds FRCPS and FCCMG certifications. Prof. Ben-Omran has authored more than 100 peer-reviewed publications, reviews for several genetics journals, and is widely recognized as a leading figure in medical genetics across the MENA region. He is also deeply involved in mentoring fellows, residents, and medical students.

Prof. Mohamed Sarar

Professor and Consultant Geneticist | Head, Genetics & Metabolic Medicine Division | Program Director, Genetics & Metabolic Medicine Program

Prof. Mohamed Sarar is a professor and consultant in genetics and metabolic medicine. He leads the Genetics and Metabolic Medicine Division and serves as Program Director for the Genetics and Metabolic Medicine Program. His expertise encompasses clinical genetics, metabolic disorders, and translational genomics. He is actively engaged in research and education and contributes to the continued development of genetic medicine programs.

Prof. Neveen A. Soliman

Dr. Johannes HÃberle

Dr. Johannes HÃberle is a pediatrician and metabolic specialist with extensive clinical, academic, and laboratory experience in Germany and Switzerland. He has served as a Metabolic Consultant at the University Children Hospital Zurich since 2008, Head of its Metabolic Laboratory since 2016, and Director of the Urea Cycle Disorders Translational Center at the University of Zurich since 2025. An Adjunct Professor of Pediatrics at the University of Zurich, he has published widely on inherited metabolic diseases, with particular emphasis on urea cycle disorders.

Dr. Mireia del Toro

Dr. Mireia del Toro is a pediatrician and Pediatric Neurology specialist who coordinates the Metabolic Unit and the Rare Diseases Program at Vall dâ€™Hebron University Hospital. A consultant at the hospital since 1999, she began focusing on metabolic diseases in 2004 and has led the unit as a Spanish, European, and Catalan reference service. Her work centers on improving diagnosis, treatment, and quality of life for patients and families affected by metabolic disorders. She coordinates lysosomal disease groups within MetabERN and AECOM and contributes to research projects, registries, and clinical trials of advanced therapies.

Dr. Marcello Bellusci

Dr. Marcello Bellusci is a metabolic pediatrician and healthcare professional representative at Hospital Universitario 12 de Octubre in Madrid. He received his MD from the University of Bologna and completed Pediatrics residency and Pediatric Neurology specialization at Hospital Universitario 12 de Octubre. His training includes work with MetabERN and EpiCARE groups in Madrid and Rome. He focuses on primary mitochondrial diseases and leads the Spanish Mitochondrial Diseases Patient Registry and the MitoSpain collaborative working group. His work includes translational research, advanced therapies for inherited metabolic disorders, clinical trials, teaching, and participation in international rare-disease networks.

Dr. Allison Faber Marshall

Dr. Allison Faber Marshall is an equine veterinarian and founder of Full Circle Veterinary Services, PC. She earned her DVM from the University of Florida College of Veterinary Medicine and began her career in general equine practice in Virginia. Her advanced training includes certification in veterinary spinal manipulation therapy and veterinary acupuncture, as well as postgraduate study in veterinary herbal medicine, food therapy, tui-na, and Traditional Chinese Veterinary Medicine. Her practice is dedicated to equine alternative therapies in Virginia and Maryland. She has also served on the AAEP Ethics Committee and has taught at Chi University
since 2010.

Dr. Chantel van Wyk

Dr. Chantel van Wyk is an Assistant Professor in the Master of Genetic Counseling Program at the College of Medicine and Health Sciences, United Arab Emirates University. A registered genetic counselor with a PhD in Health Professions Education, she brings more than 15 years of clinical, academic, and research experience. Before joining UAEU, she served as a cancer genetic counselor at the Sultan Qaboos Comprehensive Cancer Care and Research Center in Oman. Her interests include hereditary cancer, genomic education, genetic counseling workforce development, and culturally responsive cancer genetics services in the Middle East and Africa.

Dr. Mohammed Almannai

Consultant, Genetics & Precision Medicine | Program Director, Clinical Genetics & Genomics Fellowship Program

Dr. Mohammed AlMannai is a Consultant in the Genetics and Precision Medicine Department at King Abdulaziz Medical City in Riyadh and Program Director of its Clinical Genetics and Genomics Fellowship Program. He earned his MD from Arabian Gulf University and completed his internship and Pediatrics Residency at Salmaniya Medical Complex, Bahrain, followed by further pediatric training at the University of South Alabama. He subsequently completed specialty training in Medical Genetics and Medical Biochemical Genetics at Baylor College of Medicine. His work includes clinical genetics, fellowship education, and research in medical genetics and genomic medicine.

Dr. Khalid Al-Thihli

Senior Consultant, Clinical & Biochemical Genetics | Sultan Qaboos University, Muscat, Oman

Dr. Khalid Al-Thihli is a Senior Consultant Clinical and Biochemical Geneticist at the Genetics and Developmental Medicine Clinic, Sultan Qaboos University, Oman. He holds FRCPC and FCCMG certifications from the Royal College of Physicians and Surgeons of Canada. A founding member of the Omani Society for Genetic Medicine, he is also an active member of the Society for Inherited Metabolic Disorders and the Middle East Metabolic Group. His work includes clinical practice and research in genetics and inherited disorders.

Dr. Ahmad Abou Tayoun

Director, Dubai Health Genomic Medicine Center | Associate Professor of Genetics, MBRU

Dr. Ahmad Abou Tayoun is Director of the Dubai Health Genomic Medicine Center and Associate Professor of Genetics at Mohammed Bin Rashid University of Medicine and Health Sciences. He is certified by the American Board of Medical Genetics and Genomics and is a Fellow of the American College of Medical Genetics and Genomics. Previously, he served as Director of Genomic Diagnostics at the Childrens Hospital of Philadelphia and Assistant Professor at the University of Pennsylvania. His research focuses on rare pediatric diseases in the Middle East, novel gene disease discoveries, and the integration of genomic medicine into clinical practice.

Dr. Ahmed Alfares

Dr. Ahmed Alfares is Deputy Executive Director and Senior Medical Genetics Consultant at the Center for Genomic Medicine, King Faisal Specialist Hospital & Research Centre in Riyadh. He completed Medical Genetics residency training at McGill University and fellowship training in Clinical Molecular Genetics and Clinical Biochemical Genetics at Harvard Medical School. His work includes next-generation molecular genetics, exome and genome testing, and genomic diagnostics. He is also an associate professor, an active researcher, and a committed educator for genetics fellows, PhD scientists, and genetic counselors.

Dr. Hind Alsharhan

Dr. Hind Alsharhan is a Clinical and Biochemical Geneticist and Assistant Professor of Pediatrics at Kuwait University College of Medicine. She earned her Bachelor of Medicine and Surgery from Kuwait University and became ABMG-certified in Medical Biochemical Genetics in 2019 and Clinical Biochemical Genetics in 2021. Her work combines pediatric practice, clinical genetics, and biochemical genetics.

Dr. Mohammed Almuqbil

Consultant, Genetics & Precision Medicine | Program Director, Clinical Genetics & Genomics Fellowship Program

Dr. Hamad Yaseen Ali

Dr. Hamad Yaseen Ali is a genomic medicine expert specializing in chronic kidney disease, particularly autosomal dominant polycystic kidney disease (ADPKD) and diabetic nephropathy. He is an Associate Professor at Kuwait University and the Dasman Diabetes Institute and holds a visiting scientist appointment in the Mayo Clinic Division of Nephrology and Hypertension. He helped establish Kuwait first dedicated ADPKD clinic, integrating genetic diagnostics, radiologic imaging, and multidisciplinary care. His research uses next-generation sequencing and exosome profiling to identify biomarkers and disease-modifying variants, and he has authored more than 90 peer-reviewed publications.

Dr. Naif Almontashiri

Dr. Naif A. M. Almontashiri is an Associate Professor of Medical Genetics at Taibah University in Madinah and Clinical Case Studies Co-Editor for Clinical Chemistry at AACC. He earned a PhD in Cardiovascular Genetics from the University of Ottawa Heart Institute and completed dual training in Clinical Molecular and Clinical Biochemical Genetics at Harvard Medical School. He is dual board-certified in Clinical Molecular and Biochemical Genetics by the American Board of Medical Genetics and Genomics. His expertise includes molecular and biochemical assay development, diagnostic interpretation, exome and genome testing, Mendelian disease research in consanguineous populations, and laboratory test validation.

Dr. Hamza Alghamdi

Dr. Hamza Alghamdi is a Saudi radiation oncologist associated with King Faisal Medical City in Abha. His clinical and academic interests include cancer treatment and the use of advanced radiotherapy technologies to improve cancer care. He has contributed to research in oncology and the implementation of innovative radiotherapy techniques. His international clinical and research experience includes work at Institut Jules Bordet in Belgium, where he was involved in activities related to magnetic resonance linear accelerator technology, which combines MRI with radiation treatment to enable real-time visualization during radiotherapy.

Dr. Hazim Najjar

Dr. Hazim Najjar is a consultant in Clinical Pathology, Molecular Genetics, and Molecular Pathology based in Riyadh. After graduating from medical school with honors, he completed multiple specialty trainings in the United States, including Clinical Pathology, Molecular Pathology, and Clinical Molecular Genetics. He is certified by the American Board of Medical Genetics and Genomics and has held leadership roles as Medical Director and Chair of Pathology and Laboratory Medicine in the UAE and Saudi Arabia. He previously served as Director of Medical Affairs at Invitae Genomic Laboratories and is a board member of the Saudi Society of Medical Genetics.

Dr. Rawda Sunbul

Medical Genetics Consultant | Head, Newborn Screening & ERT Programs, Qatif Central Hospital

Dr. Rawda Sunbul is a Medical Genetics Consultant and Head of the Newborn Screening and Enzyme Replacement Therapy (ERT) Programs at Qatif Central Hospital. She holds Arab and Saudi Board certifications in Pediatrics and completed fellowships in Medical Genetics at King Faisal Specialist Hospital and Clinical Genetics at McGill University. She also holds a Masters degree in Healthcare Management and Leadership. Having led the Medical Genetics Unit from 2010 to 2024, she established one of Saudi Arabia largest ERT centers. Her expertise centers on lysosomal storage diseases and the advancement of genetic medicine in Saudi Arabia and beyond

Dr. Maha Faden

Consultant Pediatric Geneticist & Skeletal Dysplasia Specialist | Assistant Professor, Alfaisal University

Dr. Maha Faden is an Assistant Professor at Alfaisal University College of Medicine and a Consultant Pediatric Geneticist specializing in skeletal dysplasia. She leads specialized genetic services, including the first genetic counseling unit within the Saudi Ministry of Health, and has pioneered treatment for skeletal dysplasia and achondroplasia in the Gulf region. Dr. Faden described the novel skeletal dysplasia Faden-Alkuraya Type and has contributed extensively to newborn screening, rare-disease awareness, and clinical guidelines. She is internationally recognized for her clinical, research, and educational contributions to genetic medicine.

Dr. Rana Abdullah Al-Sheikh

Dr. Rana Abdullah Al-Sheikh is a Consultant in Pediatric Neurology and Pediatric Neuromuscular Disorders at King Saud Medical City in Riyadh. She holds the Saudi Board in Pediatric Neurology and completed fellowship training in pediatric neuromuscular disorders and clinical electrodiagnostic medicine at McGill University in Montreal. Her expertise includes the diagnosis and management of pediatric neuromuscular disorders, nerve conduction studies, and electromyography in children and adults.

Dr. Ashjan Alhajji

Dr. Shirin AlSharfa

Dr. Wejdan Hakami

Dr. Wejdan Hakami is a neurologist specializing in Pediatric Movement Disorders at Prince Sultan Military Medical City in Riyadh. She completed a Pediatric Movement Disorders Fellowship at Phoenix Childrenâ€™s Hospital in the United States. Her clinical and research work focuses on genetic and autoimmune movement disorders, genetic cerebral palsy, and movement disorders associated with neurodegenerative and metabolic conditions.

Dr. Maryam Alhashim

Dr. Nadia Al Hashmi

Medical & Biochemical Geneticist | Senior Pediatric Consultant | President, Oman Society for Genetic Medicine

Dr. Nadia Al Hashmi is a Medical and Biochemical Geneticist, Senior Pediatric Consultant, and President of the Oman Society for Genetic Medicine. A graduate of Sultan Qaboos University, she completed pediatric training and a fellowship in Medical Genetics at King Faisal Specialist Hospital in Riyadh. With more than a decade of experience at the Royal Hospital and National Genetic Center, she specializes in mitochondrial and lysosomal storage diseases, prenatal diagnosis, and preimplantation genetic diagnosis. Her work has supported more than 1,000 families in achieving healthy births.

Ms. Maria Al Hinai

Ms. Maria Al Hinai is a Genetic Counselor at Sheikh Khalifa Medical City in the United Arab Emirates and previously worked at the National Genetic Centre in Oman. She completed an MSc in Genetic and Genomic Counselling at Cardiff University. Her clinical practice spans prenatal, pediatric, and adult-onset conditions. Alongside patient care, she is engaged in training healthcare professionals, advancing health communication, and making complex genetic information accessible and meaningful for patients and families.

Ms. Aljoharah Alaskar

Ms. Aljoharah Alaskar is an American Board of Genetic Counseling certified genetic counselor at King Faisal Specialist Hospital & Research Centre. She earned her Master degree in Genetic Counseling from the University of California, Los Angeles. Her interests include disorders of sex development, reproductive genetics, and integrating genomics into primary care. At KFSHRC, she helped establish the Premarital Genetic Counseling Clinic, which offers whole-genome-sequencing-based screening, and co-developed a Precision Medicine Clinic with Family Medicine. She also contributes to education, mentorship, and professional discussions at the intersection of genetics, culture, and religion.

Ms. Reem Ibrahim

Lead Genetic Counselor, Adult & Reproductive Genetics | Clinical Coordinator, Qatar University

Ms. Reem Ibrahim is a Lead Genetic Counselor in Adult and Reproductive Genetics and a Clinical Coordinator at Qatar University. She holds a Master degree in Genetic Counseling from Sarah Lawrence College and trained at several leading hospitals in New York. She serves as a clinical coordinator and core member of the training team for Qatar University genetic counseling program. Her work combines clinical practice, education, and research, with multiple publications in clinical genetics and genomics.

Dr. Farah Al Kindy

Dr. Farah Al Kindy is a Consultant in Clinical and Biochemical Genetics at Sultan Qaboos University Hospital, University Medical City, Muscat. She completed Pediatrics residency training through the Oman Medical Specialty Board, followed by fellowship training in Medical Genetics and Genomics at Sultan Qaboos University Hospital. Her work focuses on clinical genetics, biochemical genetics, and genomic medicine.