Prof. Paul Gissen

Professor in Paediatric Metabolic Medicine at the Great Ormond Street (UCL GOS) Institute of Child Health (ICH), London, United Kingdom (UK).

Honorary Consultant at Great Ormond Street Hospital for Children (GOSH), London, United Kingdom (UK).

Paul Gissen has been a Clinical Professor in Paediatric Metabolic Medicine at the UCL GOS Institute of Child Health since 2013 and is an Honorary Consultant at Great Ormond Street Hospital for Children.

Having obtained his medical degree from the University of Glasgow in 1995, Paul completed his Paediatrics training at Manchester, Sheffield and Birmingham Children’s hospitals specialising in inherited metabolic disorders.

During his PhD at Birmingham University Paul identified genetic causes of several rare paediatric diseases and became interested in developing therapies for intracellular trafficking disorders such as Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, Niemann Pick type C disease and Neuronal Ceroid Lipofuscinosis. He is an NIHR Senior Investigator and leads Gene and Stem Cell Therapies Theme at the GOSH and GOS ICH Biomedical Research Centre.

Prof. Fatma Al Jasmi

Professor of Paediatrics at College of Medicine & Health science, United Arab Emirates (UAE) University, Al Ain, United Arab Emirates (UAE).

Metabolic consultant at Tawam Hospital, Al Ain, United Arab Emirates (UAE).

Prof. Al Jasmi is Chair of Genetic & Genomic department, at College of Medicine & Health science, UAE University, Al Ain. Metabolic consultant at Tawam Hospital. She did her undergraduate studies at UAE University, UAE and graduated in 2000 with bachelor’s in medicine and health science. She pursued her postgraduate studies at University of Toronto, and Hospital for Sick Children, Canada. In 2006, Prof. Al Jasmi received Canadian Board of Pediatrics after completing the Pediatric residency program. Subsequently, she did her fellowship in biochemical genetics and in 2008 and certified with Canadian College of Medical Genetics Board (Biochemical Genetics). Prof. Al Jasmi established the UAEU genomic lab at CMHS, UAEU. She is the chair of rare and metabolic disease committee at department of health. She participated in the expanding of national newborn screening and the premarital screening pilot study using Whole Exome sequencing. She organized and participated in numerous national and international conferences aiming to advance rare diseases community awareness, education and clinical sciences. She collaborated with numerous national and international clinical scientist to enhance rare metabolic disease research and clinical service. Prof. Al Jasmi research involved Oxygen analyzer as a screening tool for disorders of impaired cellular bioenergetics, prevalence of inborn errors of metabolism in United Arab Emirates, Newborn screening in UAE, Whole exome sequencing for inborn errors of metabolism, mitochondrial DNA variation, lysosomal storage disorders, Peroxisomal disorders in addition to identification of biomarker for propionate metabolism. Dr. Al Jasmi is one of the founder of UAE rare disease society. Prof. Al Jasmi established the biochemical Genetic Fellowship at UAE union in collaboration with Tawam hospital and graduated two prominent Emirati consultants. She is recipient of Prime Minister Award for excellence in a specialized job (2017) Chancellors’ Innovation Award (2015) Women in Science (WiS) Hall of Fame as an outstanding woman in science throughout the Middle East North Africa region (2015) and L’Oreal UNESCO For Women in Science Pan Arab award (2013) Sheikh Rashid Bin Saeed Al-Maktoum Award for Excellent Achievements in Medicine (2000).

Prof. Tawfeg Ben-Omran

Senior Clinical and Metabolic Genetics Consultant, Weill Cornell Medical College, Department of Paediatrics, Hamad Medical Corporation, Doha, Qatar.

Associate Professor, Weill Cornell Medical College, Doha, Qatar.

Distinguished visiting Scientist, Boston Children Hospital, USA.

Prof. Tawfeg - received his speciality training in clinical &metabolic genetics at the Hospital for Sick Children, University of Toronto, Canada. He has obtained both FRCPS & FCCMG in Medical Genetics in 2006. Currently,he contributes to the body of published knowledge in clinical and metabolic genetics, with over 100 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals. Additionally, he is well known figure in  medical genetics in middle east and north Africa (MENA) region. He is supervisor and teachers for plenty of fellows, residents and medical students. 

Prof. Majid Alfadhel

Chairman of Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Professor of Medical Genetics at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS).

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 Research lab at King Abdullah International Medical Research Centre (KAIMRC), and Professor of Paediatrics 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 Pediatrics, Editorial board member of Frontier in Pediatric Neurology, Authors of 3 books and one chapter in a book and editorial board member of several international journals. Has more than 200 publication 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.

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).

Prof. Moeenaldeen AlSayed

Senior Medical Genetics consultant at King Faisal Specialist Hospital & Research Centre in Riyadh, Kingdom�of�Saudi�Arabia

Moeenaldeen AlSayed is a Consultant Clinical Geneticist, Clinical Biochemical Genetics and Metabolic Diseases at King Faisal Specialist Hospital & Research Centre in Riyadh, Kingdom of Saudi Arabia and a Professor of Genetics at Al-Faisal University in Riyadh. Professor AlSayed has established and is the Director of the MSc Genetic Counselling Programme at AlFaisal University. 

Professor AlSayed is the x-chair of the Department of Medical of the Department of Medical Genetics at King Faisal Specialist Hospital and Research Centre in Riyadh. He served in this position for 11 years. During his tenure as a chair and among many achievements, he has established a completely new and unique Adult Genetics and Metabolic Diseases service and a fully dedicated genetic counselling service in his institution.  Most of the practicing genetic counsellors in Saudi Arabia are graduates of the MSc Genetic Counselling Programme that was established by Professor AlSayed in 2014.  

Professor AlSayed obtained his Bachelor’s degree in Medicine and Surgery (MBBS) from the Faculty of Medicine, King Saud University, Riyadh. He completed his paediatric residency at Yale–New Haven Children’s Hospital, Connecticut, USA and his fellowship in clinical genetics and clinical biochemical genetics at Baylor College of Medicine in Houston, Texas, USA. Professor Al-Sayed has an MBA from the University of Tennessee, USA.

His interests include identification of founder mutations related to metabolic and genetic disorders in the Saudi population, screening, and treatment of lysosomal storage diseases (LSDs) and the management of organic acidurias. He is a frequently invited speaker at local, regional and international meetings. Professor Al-Sayed is a founding member of the Middle Eastern Metabolic Group (MEMG), the Saudi Paediatric Association – Medical Genetics Subcommittee, the Saudi Charitable Society for Genetic Disorders, the Saudi Society of Medical Genetics, and the Middle Eastern Lysosomal Storage Diseases Expert Council (MELSDEC).  He has served and continues to serve on many advisory boards related to rare genetic diseases.

Prof. Mohammed A. Al-Owain

Chairman, Department of Medical Genetics, and Professor of Medical Genetics, Center for Genomic Medicine (CGM), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Professor of Medical Genetics, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia

Senior Medical Genetic consultant and chairman of medical genomic department at King Faisal Specialist Hospital and Research Centre (KFSH-RC), and Professor in the Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh.

Prof. Al-Owain received his MD degree from King Saud University (KSU) in Riyadh  Saudi Arabia then Arab board and Saudi board in paediatrics. Subsequently, he did his fellowship in clinical genetics in united state of America (USA). Prof. Al-Owain was the chairman of National Medical Genetic Fellowship program at Saudi Council of Health Specialities (SCHS). Additionally, he is a member of the Board of Directors of Saudi Society of Medical Genetics and member of many national and international societies, in addition to other regional and international initiatives. He published plenty of articles in high impact factor journals with special interest in clinical genetics and dysmorphology field.

Prof. Hamad Alzaidan

Senior Medical Genetic consultant and Deputy chairman of medical genomic department at King Faisal Specialist Hospital and Research Centre (KFSH-RC), and Professor in the Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh.

Senior Medical Genetic consultant and Deputy chairman of medical genomic department at King Faisal Specialist Hospital and Research Centre (KFSH-RC), and Professor in the Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh.
Dr. Alzaidan received his MD degree from KSU, Saudi Arabia then Arab board and Saudi board in pediatric. He obtained his fellowship in clinical and biochemical genetics from Necker hospital for sick children - Paris on 2005
He spent 10 years as a fellowship program director at KFSHRC and few years as a director of the supervisory committee of medical genetic and inborn metabolic diseases specialty in the SCFHS. He participated in the development of the current fellowship structure and curricula.
His main interest is the molecular characterization of inborn metabolic diseases as well as neuro-genetic diseases in order to provide an effective preventative intervention. He is a member of the national strategic committee of genetic diseases and currently working with the committee in re-evaluating the current premarital screening program.

Prof. Mohammed AlBalwi

Professor of Genetic in the department of pathology, college� of Medicine at King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi� Arabia

Dr. Mohammed Al Balwi is a professor of Genetic in the department of pathology, college of Medicine at King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. He serves as a consultant clinical molecular Geneticist and Clinical Cytogeneticist in the Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City. He obtained his Clinical Molecular Genetics and Clinical Cytogenetic fellowship training at Stanford University. He is board certified in Clinical Molecular Genetics and clinical Cytogenetics by the American Board of Medical Genetics. He is a co-founder of the molecular pathology and genetic section that include molecular genetics and cytogenetics laboratories at the department of pathology & laboratory medicine, KAMC-Riyadh. He interests lie in the integration of molecular genetics, cytogenetic, bioinformatics, molecular techniques for improved diagnostics of inherited and somatic diseases, and in assessing the clinical impact of molecular and cytogenetic clinical outcomes. Prof. Al Balwi has authored and co-authored numerous and relevant scientific research projects in the field of genetic medicine that were published in reputable impact Journals. In addition, he is also supervising research projects for the undergraduate, post graduates students as well as residents and fellows training

Dr. Steve Rees

Senior Vice-President of Discovery Sciences at AstraZeneca

Steve Rees is Senior Vice-President of Discovery Sciences at AstraZeneca with responsibility for the discovery of novel drug candidates, using multiple therapeutic modalities, for projects for all AstraZeneca therapy areas.  Prior to his current appointment Steve held positions of increasing responsibility at AstraZeneca including leadership of the Discovery Biology and Screening Sciences and Sample Management departments.  Prior to joining AstraZeneca, Steve worked at GlaxoSmithKline for 24 years.   He has served as Chair of the European Laboratory Research and Innovation Group and Chair of the European Council of the Society of Laboratory Automation and Screening, is currently Industry Trustee of the British Pharmacological Society and is a member of  the Royal Society Science, Industry and Translation Committee.  Steve was awarded an OBE by Her Majesty the Queen in 2021 for services to science and the COVID19 response

Dr. Marcello Maresca

Senior Director Genome Engineering Department AstraZeneca BioPharmaceuticals R&D| Discovery Sciences

is a Senior Director at AstraZeneca and currently leads the Genome Engineering department. He received his PhD in Molecular Biology from the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, where he focused on developing recombineering, a widely used genome engineering tool in bacteria. After his PhD, he pursued postdoctoral work at the Novartis Institute of BioMedical Research in Cambridge, MA, USA, where he worked on developing and applying genome editing tools in drug discovery. Currently, at AstraZeneca, Marcello and his team are working to establish Genome Editing as a novel therapeutic modality

Dr. Mohammad Bohlooly

Senior Director of Translational Genomics Discovery Science at AstraZeneca

Mohammad is the Senior Director of Translational Genomics Discovery Science at AstraZeneca. His responsibilities encompass the creation of advanced in vitro and in vivo models, as well as gene expression, transcriptomics, and their application across AstraZeneca's drug discovery initiatives. Possessing expertise in human physiology and drug discovery, his primary focus lies in validating new targets across various modalities within AstraZeneca's portfolio. Previously, Mohammad pioneered and oversaw AstraZeneca's Gene Editing capabilities and is presently deeply involved in genomic medicine initiatives. He played a pivotal role in establishing AstraZeneca's IPSc, In Vivo Target validation, and Transcriptomic capabilities. With 22 years under his belt at AstraZeneca, Mohammad has a prolific publishing record.

Dr. Christina Lampe

Director of the Centre for Rare Diseases of the Department of Child Neurology, Epileptology and Social medicine, Center for Paediatric and Adolescent Medicine at the University Hospital of Giessen, Germany.

After studying medicine at the Humboldt-University of Berlin (Charité), Germany, she completed her internship at the Surgical Department of the same university. Since 2007, she is consultant in surgery. During 2007, she first worked in a surgical private practice and then changed to Villa Metabolica, at the Department of Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University of Mainz, Germany. She worked there as the attending physician for 150 pediatric and adult patients with MPS I, II, IV and VI. In January 2014, together with Prof Maurizio Scarpa, she has set up a Center for Rare Diseases at the Dr Horst Schmidt Clinic in Wiesbaden.

She was a coinvestigator on the Phase 3 trials in mucopolysaccharidosis type IV (MPS IV –Morquio syndrome) and the Re-Survey Study in MPS VI (Maroteaux-Lamy), Dr Lampe also is an investigator for the Hunter Outcome Survey and the MPS VI Clinical Surveillance Program (CSP). Dr Lampe is a member of the Natural History Working Group in MPS II, the Steering Committee in MPS II, and the CSP Publishing Board. One of the authors of the 2011 European recommendations on the diagnosis and multidisciplinary management of MPS II, Dr Lampe’s research has also appeared in journals such as, Journal of Inherited Metabolic Disease, Rheumatology, Molecular Genetics and Metabolism and Orphanet. Coauthor of guidelines regarding the diagnosis and management of MPS, she is particularly interested in the craniocervical compression and related symptoms, a major neurological complication present in particular on MPSI, IV and VI patients. Member of several boards and advisory council on MPS she has described a severity score system for the grading of spine-cervical complication in MSPIV and VI. Christina Lampe’s interests are also devoted to correction of multiplex dysplasia in collaboration with orthopedicians for the creation of customized supports for the management of spine malformations, joint problems and hip dysplasia. Dr Lampe is Scientific Advisor for the German Society for Mucopolysaccharidosis and medical advisor of the Brains for Brain Foundation as well as of several patient associations and medical associations in particular in the East European Countries.

Dr. Amaya Belanger-Quintana

Paediatrician and Head of the Department of Metabolic Diseases in Children and Adults of the Hospital Ram�n y Cajal, Madrid, Spain.

Dr. Amaya Bélanger-Quintana is a paediatrician and Head of the Department of Metabolic Diseases in Children and Adults of the Hospital Ramón y Cajal in Madrid. This unit covers the diagnosis and follow-up of all different inborn errors of metabolism and is a national and European reference center. She is member of several national and international inborn errors of metabolism scientific advisory boards and has published extensively. She is also professor at the Alcalá de Henares University and member of several advisory boards for different regional and national government agencies in relation to neonatal screening and the attention to patient with rare diseases. 

Dr. Khalid Al-Thihli

Senior Consultant Clinical and Biochemical Geneticist, Genetics Department, Genetics and Developmental Medicine Clinic, Sultan Qaboos University, Muscat, Sultanate of Oman

Dr. Althihli is a Senior Consultant Clinical and Biochemical Geneticist in Genetics and Developmental Medicine Clinic, Genetic Department at Sultan Qaboos University, Oman. He obtained his FRCPC, FCCMG and FCCMG at Royal College of Physicians and Surgeons in Canada. He is an outstanding physician and received several awards at Sultan Qaboos University. He is also a member in the communities such as Society for Inherited Metabolic Disorder (SIMD), Middle East Metabolic Group and Founding Member at the Omani Society for Genetic Medicine (OSGM). He enhanced and improved his skills, abilities and knowledge and to gain more experience by publishing research related to genes and other related genetic disorders, in reputed journals.

Dr. Hind Alsharhan

Clinical and Biochemical Geneticist, Assistant Professor of Paediatrics at Paediatric Department, College of Medicine, Kuwait University, Kuwait. Adjunct Assistant Professor of Genetic Medicine, Johns Hopkins University School of Medicine, Maryland, United State of America (USA).

Dr. Alsharhan was certified by the American Board of Paediatrics in 2016, the American Board of Medical Genetics and Genomics (ABMG) in Medical Genetics and Genomics in 2019, the ABMG in Medical Biochemical Genetics in 2019, and the ABMG in Clinical Biochemical Genetics in 2021. Dr. Alsharhan has numerous publications in high-impact journals.

Dr. Amal Al Teneiji

Metabolic Genetics Consultant, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates (UAE)

Dr. Amal completed her undergraduate studies at UAE University and graduated in 2006 with Bachelor in Medicine and Health Science. She then completed the paediatrics residency program at Sheikh Khalifa Medical City and successfully obtained the Arab Board Specialization in Paediatrics as well as the Membership of the Royal College of Paediatrics and Child Health (MRCPCH). She then continued and pursued further postgraduate studies at The University of Toronto, and Hospital for Sick Children, Canada. Subsequently, she completed a clinical fellowship in biochemical genetics. She obtained the Canadian Board in Clinical Biochemical Genetics. She is a teacher for many residents and Fellows and has several publications in the inborn errors of metabolism field. 

Dr. Boutros Maroun

Senior Manager Medical Affair at illumina in EMEA region

Dr Boutros Maroun is a senior manager medical affair at illumina in EMEA region. He’s a medical graduate with an MD degree in medicine followed by an MSc/PhD degree in Clinical genetics and genetic counselling from university college London (UCL) in UK. Prior to joining illumina he worked as Clinical genetic liaison and GCC regional manager for Centogene focusing on genetic testing for rare diseases. He holds vast knowledge in clinical genetics, oncogenetics, reproductive genetics, and genetic counselling. In addition to the clinical genetics experience he participated in multiple advisory board as well as designing some evidence generations studies and clinical trials. Currently focusing on raising the clinical awareness and educating health care professionals on genetic diseases testing in various clinical segments

Dr. ?enay Kafkas

Senior research scientist at the Computational Bioscience Research Center of King Abdullah University of Science and Technology Thuwal, Saudi Arabia.

Dr. ?enay Kafkas has earned her doctorate in Computer Engineering. Currently, she serves as a research scientist at the Computational Bioscience Research Center of King Abdullah University of Science and Technology (KAUST) in Saudi Arabia. Her research interests include biomedical text mining, Natural Language Processing (NLP), Next Generation Sequencing (NGS) data analysis, and antibody/nanobody design. She has plenty of publication in high impact factor journals.

Dr. Robert Hoehndorf

Associate Professor in Computer Science at King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.

Dr. Hoehndorf is an Associate Professor in Computer Science at King Abdullah University of Science and Technology in Thuwal where he is the principle investigator (PI) of the Bio-Ontology Research Group (BORG) and Interim Associate Director of the Computational Bioscience Research Center. Robert's research focuses on the development and application of knowledge-based algorithms in artificial intillegence (AI) with applications to biology and biomedicine. Robert has published plenty of  papers in high impact factor journals and international conferences.

Dr. Fuad Almutairi

Senior Medical Genetics Consultant, Associate Professor of Paediatrics, Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

Dr. Almutairi obtained his MBBS degree from King Saud University (KSU) and Paediatric residency in Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia. He did his fellowship Program in Biochemical Genetics, University of British Columbia, Vancouver Canada. Currently, he is the Chairman of National Medical Genetic Fellowship program at Saudi Council of Health Specialities (SCHS). Additionally, he is a member of the Board of Directors of Saudi Society of Medical Genetics and member of many national and international societies, in addition to other regional and international initiatives. He published plenty of articles in high impact factor journals with special interest in discovering novel genes associated with neurogenetic disorders and describing their clinical and molecular characterizations via local and international collaboration. In addition, he is working at KAMC on two promising clinical projects about prevention genetics and next generation sequencing (NGS). He is a great teacher to many residents and fellows graduated under his supervision.

Dr. Malak Alghamdi

Head of Medical Genetics division at King Khalid University Hospital (KKUH), Senior Medical Genetics Consultant and Associate Professor at King Saud University(KSU), Riyadh, Saudi Arabia.

Dr. Alghamdi received her MD from KSU, Saudi Arabia, Arab board and Saudi board in pediatric and her board of Medical Genetics from Canadian College of Medical Geneticists (FCCMG). Dr. Alghamdi completed her fellowship in Clinical Biochemical Genetics at British Colombia Children’s Hospital. She established the clinical and academic Medical Genetics Division in (KSUMC). Her clinical work and research have focused on neurogenetic disorders and Inborn Errors of Metabolism (IEM) and she has several publications in this field. She won the Smart health initiative at King Abdullah University of Science and Technology.

Dr. Nahla Alshaikh

Assistant Professor of Pediatric Neurology and Neuromuscular Disorders Specialist at King Saud bin Abdulaziz University For Health Sciences, King Abdulaziz Medical City-WR, Jeddah.

Dr Alshaikh is an Adjunct Assistant Professor of Pediatric Neurology and Neuromuscular Disorders Specialist at King Saud bin Abdulaziz University For Health Sciences, King Abdulaziz Medical City-WR, Jeddah. 

Prior to her current position, she did her clinical research fellowship in neuromuscular disorders and electromyography at the Dubowitz Neuromuscular Center and Great Ormond Street NHS Trust, University College of London UCL, London, UK. 

Nahla is on a mission to raise awareness about rare neuromuscular disorders and maintain good quality service by implementing international standards and establishing collaborative clinical and research work with the leading neuromuscular organizations worldwide. 

She holds a master’s degree in medical education from King Saud bin Abdulaziz University For Health Sciences, and her main interest is in the field of cognitive neuroscience and its implication in medical education.

Dr. Mohammed Almannai

Senior Medical Genetics Consultant, Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children Hospital (KASCH), Riyadh, Saudi Arabia.

Dr. Al Mannai completed his Medical doctor degree (MD) at Arabian Gulf University, Bahrain. He took his Pediatrics residency and medical internship training at Pediatrics Residency, Salmaniya Medical Complex, Ministry of Health, Bahrain. He continued his education at Paediatrics residency at the University of South Alabama, Children's and Women's Hospital, USA. He received his specialty training in Medical Biochemical and Medical Genetics fellowship at Baylor College of Medicine, Houston, TX, USA. Dr. Almannai conducted several presentations all over the Kingdom and internationally. Also, he is a program director for Saudi Clinical Genetics and Metabolic Disorders fellow ship program at NGHA, Riyadh, Saudi Arabia. He is active in research and has a plenty of publication.

Dr. Eissa Faqieh

Senior Medical Genetics Consultant, Children's Specialist Hospital, Section of Medical Genetics, King Fahad Medical City, Riyadh, Saudi Arabia.

Dr. Eissa Faqieh, is senior consultant sub-specialty (Pediatric and Clinical Genetics/ Metabolic), Department of Pediatrics Subspecialty, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Graduated from College of Medicine, King Saud University in 1996 and obtained the Arab Board of Pediatrics, King Faisal Specialist Hospital / King Khalid University Hospital -Riyadh-2002. Subsequently Dr. Faqeih pursue his fellowship of Clinical Genetic/Metabolic disorders Sub-specialty in King Faisal Specialist Hospital & Research Centre- Riyadh-Saudi Arabia and graduated in 2005. Additionally, he has Fellowship of Medical Genetics from McGill University, Montreal-Canada in 2008. He joined King Fahad Medical City in December 2005 and has very active genetic clinics with main interest is birth defects and clinical genetics, specially bone and lethal dysplasia. Dr. Faqeih has more than 130 publications and 4 ongoing research projects related to Mendelian disorders and the demography of the recessive diseases in KSA. He is the Head section of Medical Genetics. Dr. Faqeih is also a board member in Saudi Society of Medical genetics (SSMG) for the last 15 years and IRB member at KFMC. He is recognized national speaker in several symposia and workshops arranged by many pediatrics and genetics societies and associations and a member in American and European societies of Human Genetics.

Dr. Ahmed Alfares

Deputy Executive Director and Senior Medical Genetics Consultant, Center for Genomic Medicine (CGM), King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

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 in 2011 and completed two fellowships training in Clinical Molecular Genetics and Clinical Biochemical Genetics. He is working on next-generation molecular genetics sequencing lab including large numbers of exome and genome testing. Dr. Alfares is associate professor and has plenty of publication. Additonally, he is a great teacher for several genetics fellows, PhD scientists and Genetic counsellors.

Dr. Ashjan Al-Heggi

Assistant Professor and Consultant Dermatologist at Imam University. Department of Dermatology, College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.

Dr Ashjan Alheggi is assistant professor and consultant dermatologist at Imam university.

Dr Ashjan is specialised in paediatric dermatology and genetic skin disease. She completed her training at St. John’s institute- Guy’s and St Thomas’ NHS Foundation Trust, United Kingdom(UK) in 2019. She worked in the United Kingdom’s paediatric and adult Epidermolysis bullosa (EB) services and with Debra Uk. Special interests include epidermolysis bullous, icthyosis and other disorders of keratinisation. She is a member in EB client and ministry of health project to support Eb community in Saudi Arabia.

Dr. Mohammed Almuqbil

Consultant Paediatric Neurology and Neurogenetics at King Abdullah Specialized Children Hospital(KASCH), Assistant professor at King Saud bin Abdulaziz University for Health Sciences College of Medicine, Ministry of National Guard Health Services, Riyadh, Saudi Arabia

Dr. Almuqbil completed a pediatric neurology residency at McGill University in 2-016, a medical genetics and genomics board at Harvard Medical School in 2018, and a fellowship in medical biochemical genetics at Johns Hopkins University in 2019. Subsequently, he joined King Abdullah Specialized Children Hospital at National Guard Health Affairs (NGHA) in Riyadh and the King Saud bin Abdulaziz University for Health Sciences' college of medicine. Dr. Almuqbil serves on the boards of several scientific societies, teaches many residents and fellows, and has numerous publications in high-impact factor journals.

Dr. Fahad Al Hakami

Consultant Molecular Geneticist and the Head of Molecular Medicine at King Abdulaziz Medical City-Jeddah, Saudi Arabia

Dr. Hakami is a Consultant Molecular Geneticist and the Head of Molecular Medicine at King Abdulaziz Medical City-Jeddah. He is a Joint-appointed Assistant Professor of Molecular Genetics at King Abdulaziz University for Allied Health Sciences-Jeddah. He is also the Head of the Genetics Unit at Alborg Laboratories and a Lab Consultant for Genealive Lab. Following his MSc studies in Molecular Medicine and PhD in Cancer Biology, Dr Hakami finished his Molecular Genetics Fellowship at Harvard Medical School in 2016. He has been an American-Board certified Clinical Molecular Geneticist and Fellow of the American College of Medical Genetics and Genomics since 2017. In addition to being active in publishing novel genetics findings, Dr. Hakami is an expert in molecular genetics diagnostics and has reviewed and signed out thousands of diagnostic hereditary and cancer genetics reports.

Dr. Naif Almontashiri

Dean of Scientific Research, Director of the Center for Genetics and Inherited Disorders (CGID) and Associate professor at Taibah University, Madinah, Saudi Arabi.

Clinical Case Studies Co-Editor, Clinical Chemistry Journal.

Dr. Almontashiri has years of experience in molecular and biochemical assay development and interpretation for diagnostic applications. He signed out more than 20K genetic tests (Gene panels, WES, WGS) for Saudi and non-Saudi patients with genetic diseases. He served as senior clinical molecular and biochemical genetic consultant for major hospitals like KFSHRC, KFMC, and KKESH. His major clinical and research interests involve the “Mendeliome” of consanguineous populations, candidate genes discovery and functional characterization, and laboratory developed tests and clinical validation. Raising the awareness about the autosomal recessive diseases associated with consanguinity is one of his interests to reduce the burden of the inherited disorders. Dr. Almuntashiri has plenty of publication and he is a great teacher for several post-doctoral fellows. 

Dr. Hazim Najjar

Consultant, Clinical Pathology, Molecular Genetics & Molecular Pathology.

After graduating from Medical School with honors, Dr. Najjar finished multiple specialties in the United States, including: (Clinical Pathology, Molecular Pathology & Clinical Molecular Genetics). He is Board Certified by the (American Board of Medical Genetics & Genomics). He assumed several leadership positions as (Medical Director; Chairman of Pathology & Laboratory Medicine in UAE and KSA) & he worked as a (Director of Medical Affairs at INVITAE Genomic labs from the United States). He is a board member of the (Saudi Society of Medical Genetics SSMG).

Dr. Muhammad Umair

Dr. Muhammad Umair is working as an "Associate Research Scientist" and "Team Leader of Functional Studies" at the Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Dr. Muhammad Umair is working as an "Associate Research Scientist" and "Team Leader of Functional Studies" at the Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Dr. Umair is a molecular geneticist with an interest in rare genetic disorders (RGDs). He has published over 140 research articles in the field of human genetics, with an accumulative impact factor of more than 600. Dr. Umair is currently working on several projects such as "Genetic and functional characterization of Rare Skeletal Disorders (GSDs)," "Genodermatosis," "Preventative Genome Medicine for Inherited Genetic Disorder," "Genetic and Rare Disease Registry" and "Functional Characterization of Neurodevelopmental Disorders."

Dr. Talal Alanzi

A consultant in clinical genetics and metabolic division, Prince Sultan Military Medical City, PSMMC, Riyadh, Saudi Arabia

Dr. Talal graduated from Imam Abdulrahman Bin Faisal University in Dammam in 2011, then went on to complete his paediatric residency at National Guard Health Affairs in Riyadh, where he was awarded the Saudi Board of Paediatrics in 2015. He then completed a Clinical Genetics and Metabolic Disorders fellow ship program at King Faisal Specialist Hospital & Research Centre (KFSH-RC). He has numerous publications and is an excellent teacher to many residents and fellows in the field.

Rita El Ojeil

Director Market Access & HEOR

With over 18 years of experience in the MENA pharmaceutical and consulting sectors, Rita is a seasoned professional specializing in Health Economics and Outcomes Research (HEOR). She has held diverse roles, including marketing, sales, Pricing and access, and currently serves as the Director of HEOR & Market Access in the MEA region. Rita's expertise spans various therapeutic areas, and she excels in health economic modelling, HTA submissions, value communication, and outcomes research. She has led numerous successful projects, including deployment of more than 30 patient support programs and managed entry agreements, primarily in Oncology, Haematology, and Immunology biotechnology. Notably, she has led over 100 Health Economics evaluations, encompassing BIAs, CEAs, and cost-of-illness analyses. Her achievements include spearheading the execution of the Saudi EQ-5D-5L study and currently leading the EDQ 5D Y study for youth in Saudi Arabia.