Speakers

 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. Has more than 200 publication and also he is a teacher for plenty of medical students, fellows and PhD candidates.

Prof. Dedee Murrell

Professor & Head, Department of Dermatology, St George Hospital, University of NSW, Sydney
The George Institute for Global Health University of Oxford
MA (Cantab), BMBCh (Oxon), FAAD (USA), MD (UNSW), FACD
Broad Research Areas
Dermatology
Genetics – Genome Analysis
Clinical Research
Epidemiology
Pharmacology
Specific Research Keywords
Acne
Epidermolysis Bullosa
Psoriasis
Blistering Disorders
Skin Cancer

Prof. Alberto Ortiz

Chief of Nephrology and Hypertension at the Health Research Institute of the Jiménez Díaz Foundation and University Hospital (IIS-FJD-UAM), Madrid, Spain.

Professor of Medicine at the Universidad Autonoma de Madrid (UAM), Madrid, Spain.

Prof. Alberto Ortiz was a post-doctoral research fellow at the Renal-Electrolyte Section of the University of Pennsylvania. Ortiz is European Renal Association (ERA) Clinical Nephrology Governance Chair/Chair of the Registry, as well as Clinical Science Chair elect, member of the ERA European Renal Best Practice (ERBP), coordinator of the Spanish Kidney Research Network (REDINREN, RICORS2040) and of SPACKDc (ISCIII Precision Medicine initiative), distinguished Fellow of the ERA (FERA), Board member of SOMANE. He received the 2020 ERA-EDTA Award for Research Excellence and in December 2023 co-chaired the KDIGO Controversies Conference on Maintaining Kidney Health and Preventing CKD.

Ortiz trained as a nephrologist and completed his PhD at IIS-FJD-UAM) and was a Postdoctoral researcher at the University of Pennsylvania on the topic of Molecular Nephrology. He was the Editor-in-Chief of Clinical Kidney Journal from 2014 to 2022.

Ortiz h-index is 101/123 (ISI-WOK/Google Scholar) and has plenty of publication, Ortiz research interests include the epidemiology of chronic kidney disease (CKD), the pathogenesis and treatment of Fabry disease, acute kidney injury, inherited kidney disease, diabetic nephropathy, glomerular disease and other forms of CKD and CKD features such as anemia and vascular injury, biocompatibility and systems medicine. He is ranked 4th among global experts on the kidney by https://expertscape.com/ex/kidney.

Prof. Emil Kakkis

Founder, President and Chief Executive Officer, Ultragenyx, USA.

Dr. Kakkis is Chief Executive Officer, President and a Director of Ultragenyx. He founded Ultragenyx in 2010 to create a company that is uniquely built around a deep and meaningful engagement with patients and their caregivers to fully understand their needs. This includes designing a novel development model that fundamentally changed the established paradigms in clinical protocols, endpoints and analyses, as well as challenging traditional beliefs around commercialization and access to therapies for patients with rare and ultra-rare genetic diseases. Dr. Kakkis began at the Harbor-UCLA Medical center where he was developing an enzyme replacement therapy for the rare disorder MPS I. He joined Biomarin in 1998 where he guided the development and approval of three treatments for rare diseases (MPS I, MPS VI and PKU) and contributed to the development of approved or development stage products for four other rare diseases (CLN2, MPSIVA, PKU, achondroplasia). He has worked to advance the cause of rare disease treatment through advocacy on policy issues by founding and supporting the EveryLife Foundation for Rare Diseases, a non-profit foundation dedicated to the acceleration of biotech innovation for rare diseases through practical and scientifically sound improvements to development strategies, regulatory policy and law. Dr. Kakkis received the Life Science Leadership Pantheon award from California Life Sciences, a Lifetime Achievement Award from the National MPS Society, the Roscoe O. Brady Award for Innovation and Accomplishment from the WORLD Symposium, and BIO’s Henri Termeer Visionary Leadership award for this transformative work in rare diseases. Dr. Kakkis graduated from Pomona College, magna cum laude, and received the Vaile prize for his biology research. He received combined M.D. and Ph.D. degrees from the UCLA Medical Scientist Program and received the Bogen Prize for his research upon graduation. He completed a pediatrics residency and a Medical Genetics Training Fellowship at Harbor-UCLA Medical Center, where he was an assistant professor of pediatrics and initiated the enzyme therapy program for MPS I. Dr. Kakkis was board certified in pediatrics and medical genetics.

Prof. Juan Politei

Neurology Consultant in Rare Diseases, SPINE Foundation, Buenos Aires, Argentina. Dr Politei is a neurologist and Staff Member of SPINE Foundation in Buenos Aires, Argentina. After receiving his medical degree from the University Institute of Health Sciences, Barcelo Foundation in 1999, he specialised in neurology at Juan Fernandez Hospital, Buenos Aires in 2004. In addition to his teaching activities at the University Institute of Health Sciences, Barcelo Foundation and Juan Fernandez Hospital, Buenos Aires, Dr Politei is a member of the Argentina Neurology Society. He has published more than 75 papers in peer-reviewed journals on the neurological aspects of lysosomal diseases, contributed to chapters in several publications on the neurological aspects of disorders including Fabry disease, MPS and Pompe disease, and currently serves as an Editorial Board member for the Journal of Inborn Errors of Metabolism and Screening. Since 2002, De Politei has followed more than 200 patients with lysosomal diseases at different centres and received more than 450 patients from across Latin America. His current areas of interest in lysosomal diseases are neuropathic pain, gastrointestinal involvement, quality of life and cerebrovascular compromise. He is also interested in other genetic disorders, including leukodystrophies, monogenic obesities and neuropathic pain in painful channelopathies

 Prof. Majid Alfadhel

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 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. 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. Moeenaldeen AlSayed

Professor of Medical Genetics at Alfaisal University, Riyadh, Saudi Arabia.

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. Tawfeg Ben-Omran

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

Division Chief , Genetics and Genomic Medicine, Sidra Medicine

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. Hamad Alzaidan

Senior Medical Genetic consultant and Deputy chairman of medical genomic department at King Faisal Specialist Hospital and Research Centre (KFSH-RC), Riyadh, Saudi Arabia.

Professor in the Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Dr. Alzaidan received his MD degree from KSU, Saudi Arabia then Arab board and Saudi board in paediatric. 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, He is supervisor and teachers for plenty of fellows, residents and medical students.

 Prof. Amal Alhashem

Head of Genetics Division, Department of Paediatrics Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Professor of Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Dr. Amal Alhashem  graduated from King Saud University on Saudi Arabia. She was awarded paediatric and Arab Saudi Bord, then she got her fellowship certificate in medical genetic and metabolic from King Faisal university hospital and research centre. She has been working as a consultant in Pediatrics and Genetic-Metabolic diseases for the last 10 years.. Currently, she is the head of the Saudi birth defect registry committee, and champion of the genetic specialist centre in the ministry of health. She published more than 100 papers in indexed journals and presented more than 75 conference presentations.

 Prof. Zuhair Alhassnan

Senior Medical Genetic consultant and Deputy chairman of medical genomic department at King Faisal Specialist Hospital and Research Centre (KFSH-RC), Riyadh, Saudi Arabia.

Professor of Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Prof. Alhassnan is the Chairman, Saudi National Strategic Committee for Genetic Diseases, 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 paediatrics and genetics.

Prof. Abdelaziz Alahlafi

Professor of Dermatology, Omar Al-Mukhtar University, Al Bayḑā’, Libya.

 Professor in Dermatology with interest in genodermatoses and autoimmune skin diseases. Currently Editor in Chief of Al Mukhtar Science Journal published online by Omar Al Muhtar University, Al Baida, Libya.

Prof. Khalid A. Fakhro

Chief Research Officer at Sidra Medicine and Director of the healthcare facility’s Precision Medicine program, Doha, Qatar.

Prof. Fakhro joined Sidra Medicine as a Principal Investigator in July 2014, and became Director of the Human Genetics department, where he built a robust genomic medicine research pipeline for the hospital. In 2018, he became the inaugural Director of Precision Medicine at Sidra, heading an ambitious program where research in genomics and personalized medicine are embedded in the heart of Sidra Medicine’s academic medical enterprise. Prior to joining Sidra Medicine, Prof. Fakhro was part of the Department of Genetic Medicine at Weill-Cornell Medicine in Qatar. Prof. Fakhro graduated with Honors from the University of Chicago (USA) majoring in Biological Sciences with specialization in Cellular Biology and Molecular Genetics, and later completed his PhD in Human Genetics at Yale University (USA), where he was part of a highly selective HHMI Translational Medicine Scholars program, designed to train basic scientists to take discoveries from the bench to bedside. He holds adjunct faculty appointments at both Weill-Cornell Medicine and at Hamad bin Khalifa University, where he teaches classes and mentors the next generation of Masters and PhD students in human genetics and genomic medicine.

Prof. Ghada El-Kamah

Professor of Clinical Genetics, National Research Centre, Cairo, Egypt.
Coordinator of The Hereditary Blood Disorders (HBD) and Genodermatoses clinics and research team, Human Genetics and Genome Research Institute (HGGRI), National Research
Centre (NRC), Cairo, Egypt.

Prof. Ghada is board member in the African Society of Human Genetics and Arab Association for Genetic Research; Egyptian Node for the Global Globin Network, Human Variome Project (HVP); Secretary of the Human Genetics Promotions Committee; Ethical Coordinator between the Clinical Genetics Department and the Institutional Review Board, NRC; board member in the Egyptian committee for pathology training (ECPT)-genetics; Founder of the Hereditary Blood Disorders (HBD) and Genodermatoses Clinics and research teams, HGGR, NRC; Head of the HBD research team, Centre of Scientific Excellence of Human Genetics. She received her Clinical training at the Human Genetics department, NRC; training in molecular diagnostic techniques at the NRC and Gaslini hospital Genova, Italy; tissue engineering at Lukas Krankenhaus hospital Neuss, Germany; and in health research ethics at the NRC. Her research focuses on the study of inherited rare disorders, dysmorphology, HBD, Genodermatoses, research ethics and educational issues in human genetics and genomics in Egypt and Africa. She is involved in training activities and capacity building in the field of human genetics. Co-organizing more than 36 scientific events and educational courses concerned with different aspects of human genetics. Mentoring more than 25 MSc and PhD students and post-doctoral fellows. Participating as a principal investigator or research member in more than 25 national and international research grants and involved in EU international cooperation activities since 2008. Prof. El-Kamah is a co-author of several publications in eminent scientific platforms. Associate editor in the Journal of Genetic Engineering and Biotechnology and Editorial board member for genetics in the Webmwed Central.

Prof. Katta Mohan

Professor of genetics at Sultan Qaboos University, Muscat

Dr Girisha is a professor of genetics at Sultan Qaboos University, Muscat. Earlier, he was heading the Department of Medical Genetics at Kasturba Medical College, Manipal which he established at Manipal Academy of Higher Education, Manipal. He is a clinician with special interest in skeletal dysplasia and prenatal and postnatal dysmorphology. His research is focused on skeletal dysplasia, and he is a member of the International Society for Skeletal Dysplasia where he serves as a member of the nosology group. He is a founding member and past secretary of Indian Academy of Medical Genetics. He also serves on editorial board of American Journal of Medical Genetics (associate editor), European Journal of Human Genetics (section editor), Journal of Human Genetics and Clinical Dysmorphology.

Over the last two decades, his team played a critical role in the growth of medical genetics as a specialty in India contributing to education, patient care, and research (275 peer-reviewed publications and discovering 35 new diseases and their genetic bases). He is the principal investigator for 12 research projects that includes ‘Center for Rare Disease Diagnosis, Research and Training’ funded by India Alliance. He is passionate about transforming human lives through application of genomic technologies for prevention, diagnosis, and care. His team established the first university approved Master of Science program in Genetic Counselling in India. Eight scholars have completed PhD under his supervision.

He is a medical graduate (MBBS) from Government Medical College, Mysore with post-graduation (MD) in Pediatrics from Seth GS Medical College, Mumbai. He is trained in medical genetics (DM) from Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow. He was a fellow at Cedar Sinai Medical Center, Los Angeles for training in skeletal dysplasia. He obtained his PhD from University of Antwerp, Belgium.

He is a founder and director of Suma Genomics Private Limited that provides state of art genomics diagnostic services.

Dr. Lucia Lospalluti

Medical Director of Dermatology unit at “Di Venere” Hospital, Bari, Italy.
Dr. Lucia Lospalluti has an extensive and varied academic and professional background in the fields of Medicine, Surgery, Dermatology, and Venereology.
She earned her degree in Medicine and Surgery and specialized in Dermatology and Venereology.
From 2003 to 2004, she was registered with the General Medical Council in the united Kingdom (UK). Her international experience is notable:
In August 1992, she spent a month at the Department of Physiology at the University of Valladolid in Spain, from October 1994 to July 1995, she worked in the Molecular Biology Laboratory at the Department of Pediatric Biomedicine, in October 1995, she trained in Dermatology at the “Clinica Ruber” in Madrid.  During her specialization in August 1996, she attended a stage in Plastic and Reconstructive Surgery at “Clinica Karlos Kerner” in Salvador de Bahia, Brazil.  She also gained experience at the “Guy’s & St. Thomas’ Hospital Trust” in London in 1998, focusing on Epidermolysis Bullosa in the Institute of Dermatology and Plastic Surgery.
Her career reflects both a strong foundation in dermatological practice and significant international exposure.

 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.

Chairman of Saudi fellowship program in Clinical Genetics & Metabolic Diseases

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. Khalid Al-Thihli

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

Consultant in Clinical and Biochemical Genetics, College of Medicine, Kuwait University, Kuwait.

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. She is supervisor and teachers for plenty of fellows, residents and medical students.

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. Malak Alghamdi

Senior  Medical Genetics Consultant,  King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia.

Associate Professor, King Saud University(KSU), Riyadh, Saudi Arabia.

Dr. Alghamdi received her MD from King Saud University(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, Vancouver, Canada.

 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. She is supervisor and teachers for plenty of fellows, residents and medical students.

 Dr. Ahmed Alfares

Deputy Executive Director Center for Genomic Medicine (CGM), King Faisal Hospital and Research Centre (KFSH-RC), Riyadh, Saudi Arabia.

Senior Medical Genetics Consultant, Center for Genomic Medicine (CGM), King Faisal Specialist Hospital and Research Center, Riyadh, Riyadh, 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. Additionally, he is a great teacher for several genetics fellows, PhD scientists and Genetic counsellors.

 Dr. Hazim Najjar

Consultant, Clinical Pathology, Molecular Genetics & Molecular Pathology, Riyadh, Saudi Arabia.

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 (ex- 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. Mohammed Almuqbil

Consultant Paediatric Neurology and Neurogenetics at King Abdullah Specialized Children Hospital(KASCH), Riyadh, Saudi Arabia.

Assistant professor at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), 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. Marwan Nashabat

Senior Researcher, Koç University, Istanbul, Turkey

Dr. Marwan Nashabat earned his MD degree from Jordan University of Science and Technology, followed by a Master of Science in Clinical Research from the University of Liverpool, where he gained extensive expertise in clinical trials management. He also completed a Master of Science in Genetics and Cellular Biology from King Saud University, with a focus on genetic mutations and congenital disorders. Currently a senior researcher and PhD candidate at Koç University, Dr. Nashabat specializes in the functional characterization of novel genetic variants linked to rare diseases. His research involves cutting-edge in vitro and in vivo techniques aimed at advancing the understanding of rare genetic diseases. Over the course of his career, he has contributed to numerous high-impact publications and regularly presents his research at national and international conferences. Dr. Nashabat is committed to translating his research into therapeutic advancements that improve patient outcomes and lead to innovative treatment strategies for genetic disorders.

Dr. Nadia AlHashmi

Senior Clinical  and biochemical geneticist, Muscat, Oman.

President of Oman society for genetic medicine. head of clinical section at NGC (national genetic centre ), Muscat, Oman.

Dr. Nadia graduated from sultan Qaboos university college of medicine 2001. obtained membership in paediatric MRCPH in 2006, obtained Oman medical specialist board in paediatric 2007, that was followed up by fellowship program for three years in medical genetic at king Faisal specialist hospital and research centre (KFSH-RC), Riyadh, Saudi Arabia. She was recognized as the best fellow among her patch.
She have more than 10 years of clinical experience in medical genetic at Royal hospital which is consider to be the main tertiary hospital in Oman with very heavy load of complex paediatric patients
She have main interest in lager molecular disorder selectively mitochondrial and lysosomal storage disease.
At Royal hospital we diagnosed more than 100 patients with picture of mitochondrial diseases, and more than 60 patients with lysosomal storage diseases. they have more than 8 patients on enzyme replacement therapy. She have special interest in prenatal diagnosis of inherited disease and complex fetal dysmorphology. In 2017, she established a new service to help family with inherited genetic disorder which is preimplantation genetic diagnosis (which helped more than 1002 families to get healthy child. She  plenty of  publications in biochemical genetic and clinical genetic and also involved in more than one clinical research studies. She is supervisor and teachers for plenty of fellows, residents and medical students.

Dr. Mariam AlShehhi

Consultant Clinical Geneticist, Sheikh Khalifa Medical City, United Arab Emirates (UAE).

Dr. Maryam AlShehhi, is a Consultant Clinical Geneticist who recently joined Sheikh Khalifa Medical City (SKMC) Abu Dhabi. She is an MD graduate of Sultan Qaboos University, Sultanate of Oman and she achieved her Paediatric Specialty Training in 2012 at the Oman medical Specialty Board (OMSB) with post graduate Certificate of Arab Board in Paediatrics and the Membership of the Royal College of Paediatrics and Child Health (MRCPCH). Then she pursued training in Medical Genetics at the Royal College of Physicians of Ireland in 2014 and graduated with fellowship in Clinical Genetics in addition to obtaining the certificate of training in Medical Genetics from the Royal College of Pathologists (RCPath) in the UK in 2016. She has a total of 16 years work experience. She is a member of the SEHA Genomics Service Line and an active Member of the Centre of Arab Genomic Studies Board at Sheikh Hamdan Award since 2018, Dubai. Dr. Maryam was the vice President of Oman Society of Genetic Medicine 2018 till 2022 and she has worked closely with rare diseases families to establish a Rare Diseases Support Group in Oman in 2018. Dr. Maryam was also the Assistant Program Director of OMSB Pediatric Residency Program 2018-2023 in Oman for 5 years. She received the Omani woman award for excellence in Health Care sector in March 2019. She was invited as a speaker and moderator at many conferences in the region and she has many publications and collaborations in medical genetics and genomic medicine research including new discoveries of rare disease genes. Her areas of interest are rare genetic diseases in particular dysmorphology and neuromuscular disorders.

Dr. Fathiya Al Murshedi

Senior  consultant clinical and biochemical geneticist at the Genetic and Developmental Medicine Clinic at Sultan Qaboos University hospital, Muscat, Oman.

Fathiya Al Murshedi is a senior consultant clinical and biochemical geneticist at the Genetic and Developmental Medicine Clinic at Sultan Qaboos University hospital, Muscat, Oman since 2010. She is also the program director of the Medical Genetics Fellowship Program at Sultan Qaboos University Hospital. Her current research interest is in the field of biochemical genetics disease manifestations, characterization of new genetic diseases and treatment outcomes. Background education: Dr Al Murshedi had obtained her MD from Sultan Qaboos University, Oman that was followed by residency training in Medical Genetics at the Hospital for Sick Children, University of Toronto, Canada and obtained the Fellowship of the Royal College of Physicians of Canada (FRCPC) in Medical Genetics in 2007. She completed fellowship training program in Clinical Biochemical Genetics at the at the Hospital for Sick Children, University of Toronto and obtained the fellowship of the Canadian College of Medical Geneticists (FCCMG) in 2010. Dr Al Murshedi as well completed a Master program in molecular genetics in the field of DNA repair and damage response as part of the Clinician Investigator Program (CIP) at the University of Toronto. She has plenty of publication and She is supervisor and teachers for plenty of fellows, residents and medical students.

Dr. Abeer Al Saegh

Senior Consultant in Medical and Cancer Genetics, Sultan Qaboos University, Muscat, Oman.
Head of Genomics Sultan Qaboos Comprehensive Cancer Care and Research Center, , Muscat, Oman
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Dr, Abeer is a  Medical Geneticist with experience in genetic disorders and familial cancer syndromes. Her adventure started after graduating from Sultan Qaboos University with Medical Doctor (MD). She was in the dean’s honor list and was nominated by the University to complete a residency in Medical Genetics at the University of Calgary, Canada and obtained fellowship of the Royal College of Physicians and Surgeons of Canada in Medical Genetics in 2010 followed by fellowship in Cancer Genetics from Royal College of Physicians and Surgeons of London in 2012. She established the first cancer genetics clinic in the country at Sultan Qaboos University Hospital. She led the Genomics department at Sultan Qaboos University from 01/09/2017 to 31/01/2021 and currently appointed as the head of cancer genomics at the comprehensive cancer care and research centre. She is a strong believer that patients play a vital role in shaping care in rare diseases and became the founder and current president of Oman Society of Genetic Medicine since 2019 with the main aim of increasing awareness of genetic disorders among physicians and the Omani community. Dr. Abeer main research interest areas are in genomic population screening of multifactorial diseases, genomic premarital screening and genomics of Autistic spectrum Disorder.

Dr. Ahmed Al Amri

Dr. Ahmed Al-Amri is a distinguished Lab Consultant specializing in Molecular Genetics and serves as the Head of Training & Professional Staff Development at the National Genetics Center of the Royal Hospital. With over 24 years of experience, Dr. Al-Amri is highly regarded in his field, having received numerous national and international awards.
He is an active member of various professional societies and committees and has contributed significantly to the scientific community with a substantial number of publications. His research interests focus on next-generation sequencing technologies and the interpretation of genetic variants associated with genetic diseases.
Dr. Al-Amri has led several high-impact projects funded by the Ministry of Higher Education, including research on the “Genetic Causes of Neurological Conditions in Oman and the Implementation of Machine Learning Approach to Predict Pathogenicity of Genetic Variants Associated with Cardiomyopathy.

Dr. Fahad Almarri

Specialist in Hamad General Dermatology and Venerology hospital
Hamad Medical Corporation (HMC), Doha, Qatar

Dr. Fahad Al-Marri is an Arab board certified in Dermatology and Venerology. Dr. Fahad Graduated from Weill Cornell Medicine Qatar in 2019 and joined his dermatology residency in Rumilah Dermatology. From early academic years he volunteered in medical awareness campaign in Qatar such as Sehatik Awalan as a speaker, and he is very active in promoting health and wellness. He is a member in multiple committees such as organizing Atopic world congress conference and others. Dr.Fahad is part of a researcher team conducting studies in inflammatory dermatosis such as Atopic Dermatitis, Psoriasis, Hidradenitis Supprativa, and is currently practicing in Hamad General Dermatology.

Dr. Nancy Shehata

Dr. Nancy Shehata is a distinguished board-certified consultant with specialized fellowships in pediatric dermatology and laser and cosmetic dermatology from McGill university and university of Montreal, Canada. She has over 14 years of experience in her field. Currently she is the head of dermatology department at king Abdulla medical complex and maternity and children speciality hospital , Jeddah Saudi Arabia.

Dr. Shaden Abdelhadi

Consultant in Pediatric Dermatology
Consultant in General Dermatology & Venereology
Board Certified in Human Medical Genetics
Director, Arab Board Dermatology Residency Program
(accredited by: ACGMEi accredited, Arab Board of Medical Specialties,
UAE National Board, CanMed)
Founder and Head, Epidermolysis Bullosa and Genetic Skin Diseases Clinic

Ms. Khalsa Al-Kharusi

Ms. Khalsa is  genetic counsellor, holds an MSc degree in genetic counselling from the University of Cape Town, South Africa  with over 8 years of experience, her expertise lies in general genetic counselling and reproductive genetics. She actively contributes to various projects focused on preventive genetic services, such as premarital genetic testing for rare disorders and exploring alternative reproductive genetic options like preimplantation genetic testing and prenatal diagnosis.

Dr. Intisar Hamed Al Alawi

Clinical laboratory geneticist with over 15 years of experience in of cytogenetics (6 years) and mainly molecular genetics (9 years) diagnosis. Highly skilled in advanced genomics techniques including next generation sequencing of targeted genes panel, clinical exome and whole exome sequencing (WES). Talented in guiding all functions related to research studies, analysis and reporting. Skilled multi-task with excellent communication and problem-solving skills.

Dr. Nandu Thalange

Paediatric Endocrinology,Galila Children’s Specialty Hospital – Jaddaf, Adjunct Professor of Pediatrics at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU)

Dr. Aisha Albulshi

Dr. Aaisha Al Balushi is a dedicated clicial biochemical geneticist with a strong background in clinical genetics, patient management, and research at the National Genetic Center, Royal Hospital. Has intrest in education and had been a memebr in education comittee in the pediatric residency program at oman medical specality board, supervises and mentors medical students and organizes essential exams. The affiliation with the Canadian College of Medical Geneticists (CCMG) and the contributions to research and standards in clinical genetics highlight the commitment to advancing the field

Dr. Ghada Otaifi

Dr. Ghada graduated from faculty of Medicine, Cairo University, and had her master and PhD degrees in pediatrics in Egypt. She completed 2year online Medical Genetics and Genomics Certificate Program of National Human Genome Research Institute (NHGRI), NIH, USA, 2021. She had multiple trainings in USA and Europe. She has been working as clinical geneticist in the Human genetics and Genome Research Institute, National Research Centre, Egypt since 2003. She had interest in dysmorphology and skeletal dysplasia. She joined Sultan Qaboos University hospital as Medical Genetics Consultant for more than 3 years. She has 45 publications and many national awards.

Dr. Sultan Al-Khenaizan

Assistant Professor in College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh.
Consultant Dermatologist in Department of Medicine
King Abdulaziz Medical City – Ministry of National Guard Health
Affairs , Riyadh, Saudi Arabia

I received my medical degree from College of Medicine, King Saud University of Riyadh, Saudi Arabia in 1991 with distinction and honor degree. I completed my residency in Dermatology at McGill University affiliated hospitals, in Montreal, Canada in 1998. I passed the certifying exam of the Royal College of Physicians and Surgeons of Canada FRCPin 1998 and the certifying exam of the American Board of Dermatology in October 1998. I finished my Fellowship in Pediatric Dermatology in McGill University at Montreal Canada in 1998 and Hospital of sick children in University of Toronto, Canada in 1999. My research interest focus on cosmetic dermatology, laser surgery, and pediatric dermatology.

Dr Ashjan Alheggi

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 in 2019. She worked in the United Kingdom’s paediatric and adult EB services and with Debra Uk. Special interests include epidermolysis bullous, icthyosis and other disorders of keratinisation. Member in EB client and ministry of health project to support Eb community in Saudi Arabia.