Prof. Jerry Vockley

University of Pittsburgh, School of Medicine, Children’s Hospital of Pittsburgh, UPMC Department of Medical Genetics Penn Avenue Pittsburgh, USA

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.

Prof. Darren Griffin

Professor of Genetics Director, Centre for Interdisciplinary Studies of Reproduction, University of Kent, UK.

Professor Darren Griffin received his Bachelor of Science and Doctor of Science degrees from the University of Manchester and his PhD from University College London. After postdoctoral stints at Case Western Reserve University and the University of Cambridge he landed his first academic post at Brunel University, before settling at the University of Kent, where he’s been for the last 15+ years. He has worked under the mentorship of Professors Joy Delhanty, Christine Harrison, Terry Hassold, Alan Handyside and Malcolm Ferguson-Smith. He is President of the International Chromosome and Genome Society, a Fellow of the Royal College of Pathologists, the Royal Society of Biology and the Royal Society of Arts, Manufacture and Commerce. He sits on the faculty of CoGen (controversies in genetics) and has previously sat on the board of the Preimplantation Genetic Diagnosis International Society (PGDIS), organising its annual meeting in 2014. Professor Griffin is a world leader in cytogenetics. He performed the first successful cytogenetic PGD (using X and Y FISH probes for sexing) and, more recently, played a significant role in the development of Karyomapping, an approach he now applies to cattle. In a 30+ year scientific research career he has co-authored over 300 scientific publications, mainly on the cytogenetics of reproduction and evolution, most recently providing insight into the karyotypes of dinosaurs. He is a prolific science communicator, making every effort to make scientific research publicly accessible (both his own and others) and is an enthusiastic proponent for the benefits of interdisciplinary research endeavour. He has supervised over 35 PhD students to completion and his work appears consistently in the national and international news. He currently runs a vibrant research lab of about 20 people (including a programme of externally supervised students) and maintains commercial interests in the outcomes of research findings, liaising with companies in the field.

Prof. Ravi Savarirayan

Victorian Clinical Genetics Services, Murdoch Children’s Research Institute and University of Melbourne, Australia

Prof. Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Skeletal therapies) at Murdoch Children’s Research Institute, Victoria, Australia and Group Leader of Skeletal Biology and Disease at Murdoch Childrens Research Institute. He is also Head of Clinical Genetics Services at the Victorian Clinical Genetic Services. Ravi's primary clinical and research focus are the inherited disorders of the skeleton causing short stature, arthritis and osteoporosis. He is the Foundation Director of the Southern Cross Bone Dysplasia Centre and immediate past-President of the International Skeletal Dysplasia Society (ISDS) and was the first Australian to hold this post. He has won numerous academic awards including the Fulbright Professional Scholarship for Australia that took him to Los Angeles in 1999 for further studies in the field of bone disorders. He pursued his doctoral studies in the clinical and molecular aspects of these disorders and has published over 150 peer-reviewed scientific journal papers. He conducts diagnosis and management clinics for patients and their families with these conditions throughout Australasia, and is an invited expert case-manager for the European Skeletal Dysplasia Network. Professor Savarirayan's international reputation in the field has been demonstrated by being invited to deliver the opening scientific address at the Combined International Congress of Orthopaedic Associations, held every seven years.

Prof. Bruno Reversade

Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore

Prof. Bruno Reversade was trained as a developmental biologist in the HHMI lab of Prof. De Robertis at UCLA. After his PhD in 2008, he was awarded the inaugural A*STAR investigator ship and set up his team at the Institute of Medical Biology in Singapore. There, he switched to human genetics, placing emphasis on monogenic, fully penetrant and unique genetic traits as a means to understand complex and common diseases. Combining the power of Mendelian genetics, patient-derived iPSCs and animal modeling in zebrafish, Xenopus and mice, his team has resolved numerous human disorders affecting embryogenesis, metabolism, ageing, cognition and familial cancers. Some of these discoveries have been licensed or are being developed for diagnostic and therapeutic purposes. Prof. Bruno is a Research Director at A*STAR in Singapore, a fellow of the Branco Weiss (Switzerland) and National Research Foundations (Singapore), the first EMBO Young Investigator based outside Europe, and a Professor of Genetics at Koç University (Turkey) and at Amsterdam UMC (Netherlands).

Prof. Fowzan Sami Alkuraya

Department of Genetics King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

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 480 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 and Curt Stern Award (first non-US based winner).

Prof. Zuhair Alhassnan

Prof. of Genetics, College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia

Chairman, Saudi National Strategic Committee for Genetic Diseases, Consultant, Dept. of Medical Genetic and Vice Chairman of the Saudi National Bioethics Committee. Prof. Alhasnan has identified numerous novel genetic diseases in the fields of neurodevelopmental and cardiology genetics. Has a large number of publications in high impact factor journals and has taught several students and fellows in the fields of pediatrics and genetics.

Prof. Amal Alhashem

Pediatrician, Medical Geneticist (clinical genetics), Department of Pediatrics Prince Sultan Military Medical City, & Professor of Genetics, College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia

Dr. Amal Alhashem is a Saudi doctor who graduated from King Saud University, SA. She was awarded pediatric and Arab Saudi Bord, then she got her fellowship certificate in medical genetic and metabolic from King Faisal university hospital and research center. She has been working as a consultant in Pediatrics and Genetic-Metabolic diseases for the last 10 years. Now currently working as head division, Consultant pediatric, medical genetic at Pediatrician in Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Currently, she is the president of the Saudi society of medical genetic, head of the Saudi birth defect registry committee, and champion of the genetic specialist center in the ministry of health. She published more than 100 papers in indexed journals and presented more than 75 conference presentations.

Prof. Mohammed A. Al-Owain

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University & Chairman, Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia

Professor, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia Chairman, Department of Medical Genetics, King Faisal Specialist Hospital & Research Center Saudi Arabia. American Board of Pediatrics American Board of Clinical and Biochemical Genetics. Publications: 135

Prof. Fatma Al Jasmi

Associate Professor of Pediatrics at College of Medicine & Health science, UAE University, Al Ain Metabolic consultant at Tawam Hospital, UAE

Dr. Al Jasmi is Associate Professor of Pediatrics at College of Medicine & Health Science, UAE University, Al, Ain and Metabolic consultant at Tawan Hospital. She did her undergraduate studies at UAE University, UAE and graduated in 2000 with bachelor in Medicine and health science. She pursued her postgraduate studies at University of Toronto, and Hospital for Sick Children, Canada. In 2006, Dr. Al Jasmi received Canadian Board of Pediatrics after completing the Pediatric residency program. Subsequently, she did her fellowship in biochemical genetics and in 2008 she was certified with Canadian College of Medical genetics Board in Biochemical Genetics.

Prof. Tawfeg Ben-Omran

Clinical and Metabolic Genetics, Weill Cornell Medical College, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar

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 is a senior consultant and Division Chief, Genetic and Genomic Medicine at Sidra Medicine. He is an Associate Professor at Weill Cornell Medical College, Qatar & New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA. 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.

Prof. Majid Alfadhel

Chairman of Genetics and Precision Medicine Department, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNG-HA , Riyadh, Kingdom of Saudi Arabia

Dr. 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 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 155 publications in high impact factor journals and more than 100 abstracts. He is a supervisor and teacher for plenty of fellows, residents and medical students. He was successful in contributing in discovery of 50 novel genes specifically for disorders involving the brain, inborn errors of metabolism and other single gene defects. 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.

Prof. Baris Akinci

Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Inciralti, Izmir, Turkey

Dr. BARIS  is currently a research fellow in Metabolism, Endocrinology and Diabetes at the Brehm Diabetes Center, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. (2018, ongoing).  Akinci is also a professor in the Division of Endocrinology and Metabolism, Department of Internal Medicine and Department of Molecular Medicine at the Dokuz Eylkhov University, Dokuz Eylkhov, MI, USA (2018, ongoing).of Dokuz Eylul University, Inciralti, Izmir, Turkey, 35380. On the other hand Baris Akinci was in the years 2011 and 2012, International Fellow of the Endocrine Society, UT Southwestern Medical Center, Human Nutrition, Dallas, TX, USA as well as Academic Visitor of the Diabetes and Cardiovascular Research Unit, Leeds Institute of Health and Therapeutics, Leeds, UK (2008-2009) and then served as an Attending Physician at Tepecik Training Hospital, Izmir, Turkey (2009-2011).

Dr. Robert Hoehndorf

King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia

Robert Hoehndorf is an Associate Professor in Computer Science at King Abdullah University of Science and Technology (KAUST) in Thuwal. Prior to joining KAUST, Robert had research positions at Aberystwyth University, the University of Cambridge, the European Bioinformatics Institute, and the Max Planck Institute for Evolutionary Anthropology. His research focuses on the development and application of knowledge-based algorithms in biology and biomedicine.

Dr. Tracy Dudding-Byth

University of Newcastle, Australia

Associate Professor Tracy Dudding-Byth NSW Genetics of Learning Disability (GOLD) Service, Hunter Genetics and The University of Newcastle, Australia. Principal investigator of the International FaceMatch Project and the NF1 Cutaneous Neurofibroma Consortium. Associate Professor Tracy Dudding-Byth (BMed, FRACP, PhD) is a consultant clinical geneticist with a clinical and research interest in intellectual disability and rare diseases. As facial features can provide a clue to the diagnosis in around 50% of children with intellectual disability, A/Prof Dudding-Byth developed the innovative international FaceMatch project with the vision of helping find a diagnosis for children with an intellectual disability where genetic testing has not provided an answer. FaceMatch is a first-of-its-kind international platform incorporating facial recognition technology and combined parent-doctor participation to facilitate the study of monogenic causes of ID. An inventive model of recruitment can be initiated by either the parent or the doctor. A/Prof Dudding-Byth is a finalist for a Research Australia Health and Medical Research Award in Innovative Data. She has shown an extraordinary commitment to patients with rare diseases, including co-founding Rare Voices Australia to unite and advocate for people living with a rare disease.

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, which he in reputable journals.

Dr. Malak Alghamdi

Medical Geneticist at king Saud University Medical City Head of medical genetic division at KSUMC, Riyadh, Kingdom of Saudi Arabia

Malak Alghamdi, MD, is a Medical Geneticist at King Saud University Medical City (KSUMC) and associate professor at College of Medicine, King Saud University (KSU). She 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. 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. Adel Mohammed Al-Duraihem

Princess Nourah bint Abdurahman University, Riyadh, Kingdom of Saudi Arabia

Dr Binduraihem currently works as a research scientist at Health Science Research Centre (HSRC) of Princess Nourah bint Abdurahman University. Also, he works as a clinical scientist at Thuriah Medical Centre. He used to work at the Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre. Adel interested in doing research in Andrology and Genetic Embryology. His most recent publication is 'Sedimentation properties in density gradients correspond with levels of sperm DNA fragmentation, chromatin compaction and binding affinity to hyaluronic acid'.

Dr. Yusra Ahmed Alyafee

Medical Genomic Research Department Ministry of National Guard Health Affairs, King Abdullah International Medical Research Center, Riyadh, Kingdom of Saudi Arabia

Dr. Yusra Alyafee is the team leader of Preimplantation Genetic Testing (PGT) and Noninvasive Prenatal Testing (NIPT) section at King Abdullah International Medical Research Center (KAIMRC) at the Ministry of National Guard-Health Affairs (MNGHA). She is also a postdoctoral research fellow at Medical Genomic Research Department (MGRD). Her role as a postdoctoral fellow allows her to investigates the causes of different genetic disorders in the Saudi population with the goal of identifying novel genes and finding effective preventative regimes for these disorders. Furthermore, in collaboration with her colleagues in MGRD she is also a co-investigator for finding new approach of gene therapy especially for the most common genetic disorders. Furthermore, Dr. Alyafee is interested in developing new technologies that can help in early detection and intervention of inherited disorders. Dr. Alyafee received her Doctoral (Ph.D) degree in Molecular Physiology and a Master of Science degree in Clinical Biochemistry from King Saud University. During Dr. Alyafee work and career, she has established herself as a research leader, and published in prestigious peer-reviewed scientific journals. Dr. Alyafee also taught several courses, led many initiatives, and held several committee positions. In addition, Dr. Alyafee is the recipient of several awards including best oral and poster presentation awards in several scientific forums, best employee award, and the Mentor for the first-place winner teams in several training programs.

Dr. Mohammed Al-raqad

Al-Balqa Applied University, Faculty of Medicine, Al-Salt, Jordan

Honours, Awards and Social Activities: - Military Order of Merit; honoured by his majesty King Abdullah the second, a reward for my contribution in scientific research. June 10, 2015. - NATO Medal for service with NATO operations in relation to Kosovo during period of May 10, 1999-Feb 12, 2000 as a field hospital Paediatrician. - Field Hospital Paediatrician in Ramallah/ Palestine; May- June 2002. - Director of the Field Jordanian Hospital/ Gaza/Palestine; April- July 2013 Achievement: - Al-raqad syndrome: A newly recognized autosomal recessive disorder named after my name (https://www.omim.org/entry/616459) - Describing with other authors a new autosomal recessive neurodevelopmental disorder caused by homozygous loss-of-function CAMK2A mutation. - In collaboration with multicenter worldwide, described a new phenotype related to SYT1 gene.

Dr. Makki Almuntashri

Consultant Neuroradiologist at King Abdulaziz Medical City (KAMC), in Riyadh, Kingdom of Saudi Arabia.

Consultant Neuroradiologist at King Abdulaziz Medical City (KAMC), in Riyadh city, Saudi Arabia. Assistant Professor of Radiology at King Saud University of Health Sciences (KSU-HS). Head of Imaging Research unit at King Abdullah International Medical Research Center (KAIMRC). 2014-2018: Program Director of Neuroradiology Fellowship at King Abdulaziz Medical City (KAMC). SCIENTIFIC ACTIVITY: Reviewer to 3 international journals in Radiology: American Journal of Roentgenology, British Medical Journal, Book Author: (Introductory head and neck imaging book). Main author and contributor to 25 publications in literature, and one grant funded project. Main Clinical and research interest: Neuroimaging and head and neck imaging focusing on Advanced and functional neuroimaging and MR-guided HIFU and animal imaging. Conferences: Organizer, moderator and speaker in many local and international scientific conferences and events and had honorable member in many scientific societies.

Dr. Bahauddeen Alrfaei

Cellular and Molecular Pathology – specialist in Cancer Stem Cells and Rear Diseases Research King Abdullah International Medical Research Center Research Scientist (KAIMRC), Kingdom of Saudi Arabia

Dr. Bahauddeen Alrfaei is a Research Scientist in the Dept. of Cellular Therapy and Cancer Research at King Abdullah International Research Center (KAIMRC) under King Saud bin Abdulaziz University for Health Sciences. He earned his PhD in Cellular and Molecular Pathology in 2013 from the University of Wisconsin Madison, USA. Later, he did postdoctoral fellowship at Stanford University in USA, 2013-2014 focusing on Genomics and Molecular Characterization of Glioblastoma Stem Cells. Dr. Alrfaei is a principal investigator in multiple funded projects totalling more than 3,000,000 SAR. His involvement as Co-Investigator in funded projects totaling more than 4,000,000 SAR. Dr. Alrfaei research interests are cancer stem cells, metabolic disorders and neural development. Dr. Alrfaei has multiple patents. In addition, he mentors Master students, PhD students, and postdoctoral scholars. Further, he serves as a consultant for Saudi FDA and other local and international committees. He has many publications in his area.

Dr. Mohammed Almannai

Section of Medical Genetics, Children's Hospital, King Fahad Medical City, 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 Pediatrics residency at the University of South Alabama, Children's and Women's Hospital, Mobile, AL. He received his specialty training in Medical Biochemical and Medical Genetics Genetics fellowship at Baylor College of Medicine, Houston, TX. Dr. Manai is working as a consultant in medical and biochemical genetics at King Fahad Medical City, Riyadh. He is responsible, reliable and very hard working physician. Moreover, Dr. Al Mannai conducted several presentations all over the Kingdom and internationally. Also, he is active in research publications and published more than 10 studies.

Dr. Ahmed Alfares

Associate Professor of Medical Genetics Qassim University, 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. Dr. Alfares is currently working as an associate professor at Qassim University and as a consultant in medical genetics at National Guard Hospital. He is working on high-throughput molecular genetics sequencing lab including large numbers of exome and genome testing.

Dr. Hazim Najjar

Consultant, Clinical Pathology, Molecular Genetics & Molecular Pathology. Riyadh 1st Health Cluster, Kingdom of Saudi Arabia

After Medical School, Dr. Najjar finished multiple specialities in US, including: (Clinical Pathology, Molecular Genetic Pathology & Clinical Molecular Genetics). He is Board Certified by the (American Board of Medical Genetics & Genomics ABMGG). He assumed several leadership positions e.g. (Medical Director; Chairman of Pathology & Laboratory Medicine, and Leader of Laboratory Medicine Specialty in several hospitals & healthcare systems). He is a board member of the (Saudi Society of Medical Genetics SSMG) & the Chairman of its (Genetic Testing Committee).

Ms. Maha Alshalan

King Abdullah Specialized Children’s Hospital (King Abdulaziz Medical City), Riyadh, Kingdom of Saudi Arabia

Maha Alshalan is a Senior Genetic Counselor at King Abdullah Specialized Children’s Hospital (King Abdulaziz Medical City), with a Master's degree in Genetic Counseling graduated from Alfaisal University in 2019. Previously, she worked 7 years in Cytogenetic lab in Molecular Pathology laboratory at King Abdulaziz Medical City (National Guard Hospital).

Mr. Maher Hassan Al-Ghedan

Genetic lab supervisor, Thuriah Medical Center, Riyadh, Kingdom of Saudi Arabia

Maher Hassan Badran Al-Ghedan, is a Genetic laboratory supervisor at Thuriah Medical center From Jordan, he has a master degree from Valencia University in Biotechnology of Assisted Human Reproduction and embryology, his major goal is to support families to get their healthy babies, he established and designed a modern core reproductive genetic laboratory covering cytogenetics molecular cytogenetics and molecular genetics, His main interest in combining business and science to translate scientific and technological ideas into profitable products and services.

Ms. Iram Alluhaydan

Genetics and Precision Medicine Department, King Abdulaziz Medical City, NGHA, Kingdom of Saudi Arabia

Ms. Iram Alluhaidan graduated from the University of Liverpool, United Kingdom in 2012, with a BSc degree in Genetics. She joined King Abdulaziz Medical City in 2015. She is currently working as a Genetic Counsellor, under Genetics and Precision Medicine Department. Additionally, she runs Perimplantation genetic testing clinic and coordinating perinatal genetic services at NGHA.