Speakers

Prof. Johannes Haberle

Head of Metabolism Laboratory Metabolic diseases Laboratory Metabolism Adjunct Professor, University of Zurich
Prof Johannes Häberle is a paediatrician, neonatologist and intensive care specialist and a senior metabolic consultant at University Children’s Hospital Zürich, where he is also Head of the Metabolic Laboratory, and an Assistant Professor of Paediatrics at the University of Zürich. His research group focuses on inherited defects of ureagenesis and on the development of novel treatment options for urea cycle disorders. Dr Häberle chairs the European working group for guidelines for the diagnosis and treatment of urea cycle disorders and is a member of the Executive and Scientific Boards of the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). He is also Chair of the SSIEM Education and Training Advisory Committee (ETAC) and a council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM).

Prof. Maurizio Scarpa

Director, Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy
Prof Scarpa earned his medical degree and doctorate and completed his residency in Paediatrics at the University of Padova.
He completed a postdoctoral fellowship in molecular biology and gene expression at the European Molecular Biology Laboratory in Heidelberg (Germany), and in genetics/gene therapy at Baylor College of Medicine in Houston, Texas, USA.
Prof Scarpa has been the Director of the PhD Course on Genetics and Biochemistry at the Dept. for the Woman and Child Health at the University of Padova, Italy.
He served as vice-Dean for the International Affairs at the University of Padova and Director of the International Affairs Office at the Faculty of Medicine of the University of Padova, Italy.
Prof Scarpa has extensive expertise as a basic scientist in genetics and biotechnology, and as a clinician in the diagnosis and treatment of paediatric rare disorders, neurometabolic diseases in particular. He is especially interested in developing innovative health approaches for the diagnosis and the treatment of metabolic inherited diseases, to this aim he is also collaborating with the major Biotech Companies as external independent expert.
Prof. Scarpa´s teaching and educational interests aim, among other, at the development of a MD/PhD European Program on Inherited Metabolic Diseases. Prof Scarpa published about 140 international peer reviewed clinical and scientific papers, book chapters and reviews.

Prof. Nara Sobreira

MD, PhD, Associate Professor of Pediatrics, Johns Hopkins U.
Dr. Sobreira received her medical degree from the Pernambuco University School of Medicine in 2003. She completed a clinical genetics residency in Sao Paulo Brazil (UNIFESP) before joining the Human Genetics graduate program at Johns Hopkins (2007 to 2012). This was followed by a one-year postdoc and a two-year clinical genetics fellowship also at Johns Hopkins School of Medicine. Dr. Sobreira was recruited to the Genetic Medicine faculty in 2015. She has been instrumental in the development of public genetic data bases and genetic analytical tools that are highly valuable, widely used, promote disease gene identification and facilitate collaborations. She developed the PhenoDB analysis module that is in use around the world. Dr. Sobreira is one of the creators of GeneMatcher, the most widely used data sharing platform of rare Mendelian diseases. In addition, she has championed the sharing of gene variant information in genomic databases by developing VariantMatcher

Prof. Fatma Aljasmi

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. 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

Professor of Medical Genetics at Alfaisal University, Riyadh, Saudi Arabia. Senior Medical Genetics consultant at King Faisal Specialist Hospital & Research Centre in Riyadh, 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.
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. 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 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. Bruno Reversade

Professor & Research Director Branco Weiss Fellow & EMBO Young Investigator Laboratory of Human Embryology & Genetics
Prof. Bruno Reversade is a human geneticist known for discovering mutations behind rare genetic traits, revealing how they inform common diseases. His “rare begets common” approach links extreme human phenotypes to breakthroughs in diagnostics and therapies. Using patient-derived organoids, animal models, and biochemical tools, his team uncovers disease mechanisms with real-world medical impact. He has held prestigious positions across Singapore, Europe, and Türkiye.

Dr. Laura A Adang

Assistant Professor of Neurology at the Children's Hospital of Philadelphia, USA
Laura Adang, MD, PhD is an attending physician in the Division of Neurology at Children's Hospital of Philadelphia, specializing in the care of children with multiple sclerosis and other neuro-inflammatory disorders.

Dr. Hamda Abulhoul

Consultant Pediatrician in Inborn Errors of Metabolism, Al Jalila children’s specialty hospital, Dubai, UAE
Dr. Hamda Abulhoul is a consultant pediatrician in inborn errors of metabolism. Dr Abulhoul graduated from Edinburgh Medical School, U.K. in 1995. She completed all her postgraduate training in the UK becoming a consultant in 2005. From 2008-2016 she worked as a Consultant in Metabolic Medicine at Great Ormond Street Hospital in London, U.K. During her time at Great Ormond Street Hospital she was Clinical Lead for the metabolic department with a strong focus on patient experience and safety. Dr. Abulhoul moved to U.A.E and started working in Dubai in 2016. She is currently working at Al Jalila children’s specialty hospital, Dubai.

Dr. Daniel Fertek

Executive Medical Director, Denali Therapeutics
Daniel Fertek graduated as a medical doctor from Charles' University in Prague, the Czech Republic in 2002, and was specialising in clinical chemistry, which included research in bone metabolic diseases at the Institute of clinical biochemistry in Hradec Kralove. In 2004 he joined a global contract research organization, CCBR-Synarc, which focused on drug development mainly in musculoskeletal diseases, such as osteoporosis and osteoarthritis, first as the founder and general manager of the Czech affiliate and later in global leadership based in Copenhagen, Denmark. In 2014 he joined Shire Pharmaceuticals (later Takeda Pharmaceuticals) in Medical Affairs, and held roles with growing responsibility in lysosomal disease therapy areas first in the CEEMEA region, based in Berlin, Germany. Later he continued in global management where he served as Global Medical Lead for MPS based in Zug, Switzerland. Since 2023, Daniel Fertek has joined Denali Pharmaceuticals in its office based in Zurich, Switzerland, assuming responsibility as Executive Medical Director Global Medical Affairs for ETV ERTs and continuing his work in MPS and other lysosomal diseases.

Dr. Jamal Aljubeh

Consultant Pediatric Endocrinologist, Director, Pediatric Endocrine fellowship, Chairman of Seha Pediatric Council
Dr. Jamal Al Jubeh is consultant pediatric endocrinologist at Sheikh Khalifa Medical City in Abu Dhabi, UAE since 2006. He served as the Chairman of Pediatrics at SKMC 2013 - 2020. He is currently the Chairman of Seha Pediatric council in Abu Dhabi and director of Pediatric Endocrinology fellowship at SKMC. He graduated from the medical school at the University of Jordan then completed his training in pediatrics and pediatric endocrinology at the University of Texas Medical Branch in Galveston, Texas, USA. He is American Board certified in pediatrics and pediatric endocrinology. He has several publications in peer reviewed journals and many presentations in regional meetings. He is active member of several societies in the field of pediatric endocrinology and diabetes.

Dr. Nawal Makhseed

Senior Consultant Clinical and Biochemical Geneticist, Department of Pediatrics, Jahra Hospital, Ministry of Health, Jahra City, Kuwait

Dr. Fuad Al Mutairi

Chairman of Saudi fellowship program in Clinical Genetics & Metabolic Diseases 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. 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. 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. Ahmed AbouTayon

Director of Dubai Health Genomic Medicine Center Associate Professor of Genetics Dubai Health, UAE
clinical molecular geneticist passionate about bringing the best clinical genomics services to underserved populations, like those in the Middle East, and building local genomic training and research programs. I work with equally enthusiastic, local and international, teams towards these goals, and towards making new genomic discoveries, establishing new tools and guidelines for implementation of human genomics.

Dr. Almundher Al-Maawali

Senior consultant Medical Genetics
Dr. Al-Maawali obtained his medical degree (MD) from Sultan Qaboos University, Oman. He finished his Medical Genetics residency training at the Hospital for Sick Children, University of Toronto, and then fellowship at Boston Children’s Hospital, Harvard Medical School, USA. Currently at Sultan Qaboos University, Muscat, he is a practicing medical geneticist and a researcher. His research interests are intellectual disability, gene discovery and the use of next generation sequencing in patients’ care.

Dr. Nadia Alhashmi

Consultant in inborn error of metabolic and clinical genetic. National genetic center Department of Child Health Royal Hospital- 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. 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.
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. Mariam Alshehhi

Consultant Clinical Geneticist Sheikh Khalifa Medical City United Arab Emirates
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 Pediatric Specialty Training in 2012 at the Oman medical Specialty Board (OMSB) with post graduate Certificate of Arab Board in Pediatrics and the Membership of the Royal College of Pediatrics and Child Health (MRCPCH).

Dr. Ghada Ahmed Otaify

Clinical Genetics Consultant Sultan Qaboos University Hospital Clinical Genetics Consultant Sultan Qaboos University Hospital Clinical Genetics Consultant Sultan Qaboos University Hospital
Dr. Ghada graduated from faculty of Medicine, Cairo University, and had her master and PhD degrees in pediatrics in Egypt. She completed 2-year online Medical Genetics and Genomics Certificate Program of National Human Genome Research Institute (NHGRI), NIH, USA, 2021. She received advanced training in both the 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. Since 2021, she joined Sultan Qaboos University hospital as Clinical Genetics Consultant. She has more than 45 publications and many national awards

Dr. Aamna Alshehhi

Assistant Professor in Biomedical Engineering and Biotechnology College Of Medicine And Health Sciences Khalifa University
Dr. Aamna AlShehhi joined Khalifa University as an Assistant Professor of Electrical Engineering and Computer Science in 2020. Her research interests include Statistical Analysis, Big Data analytics, Machine Learning, and Artificial Intelligence. She holds a Bachelor's degree in Software Engineering from the United Arab Emirates University (2009), and Master's in Computing and Information Science (2013) and PhD in Interdisciplinary Engineering (2017) degrees from Masdar Institute of Science and Technology in collaboration with the Massachusetts Institute of Technology (MIT). During her PhD, Dr. AlShehhi was part of an exchange program for one semester at MIT (2015). During her studies, her research was based on time series analysis, big data analysis, and machine learning modeling for weather forecasting for different weather stations in the UAE and Twitter data analysis in the context of the Arab world with a special focus on the UAE. This involved a combination of Sentiment Analysis, Complex Collective Behavior, and Natural Language Processing. In 2017, Dr. AlShehhi joined Khalifa University and MIT as a post-doctoral fellow. She also joined the Imperial College London as an honorary research associate at the School of Public Health, Epidemiology & Biostatistics (inc MRC-PHE Centre). Her post-doc research focus has been on Causal Inference, Machine Learning, and Artificial Intelligence for the medical domain. Her works centered on skin lesion analysis toward melanoma detection and screening different drugs to repurpose a drug that can delay the onset and the progress of dementia. Aside from her academic project, Dr. AlShehhi collaborates with researchers from the Novartis Institute for Biomedical Research to build Deep Learning models for early-stage cancer detection using genomic data.

Dr. Muhammad Jalal Khan

Postdoctoral Fellow, Health Data Science Lab, Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University
Dr. Jalal Khan is currently a Postdoctoral Fellow in the College of Medicine and Health Sciences (CMHS) at United Arab Emirates University (UAEU). He earned his Ph.D. in Computer Science from UAEU’s College of Information Technology in 2024, following an M.S. in Software Engineering from King Fahd University of Petroleum and Minerals (KFUPM), Saudi Arabia, in 2018. Before joining CMHS, Dr. Khan was a Senior Lecturer in the Department of Computer Science at the City University of Science and Information Technology (CUSIT) and served as a Senior Software Engineer at several national and international software houses in Pakistan. His deep interest in data and algorithms drives his research in artificial intelligence, machine learning, deep learning, autonomous systems, and the design of intelligent infrastructures. His work has appeared in top-tier international conferences and peer-reviewed journals including the prestigious ACM Computing Surveys (top 1%). In recognition of his early academic achievements, he received the University of Peshawar’s Gold Medal Award in 2013 for ranking first in his graduating class.

Dr. Nesrin Gariballa

postdoctoral research fellow in the Department of Genetics and Genomics at the College of Medicine and Health Sciences, UAE University
She earned her BSc from De Montfort University, UK, followed by an MSc in Pharmacology and Biotechnology from Sheffield Hallam University, UK. She earned her PhD from UAE University in 2023. Dr. Gariballa has extensive expertise in endoplasmic reticulum (ER) protein folding quality control and has authored several publications in this field. Her work has also focused on the molecular mechanisms underlying diseases caused by mutations in components of the TGFβ signalling pathway, specifically Hereditary haemorrhagic telangiectasia type1 and 2 caused by mutations in Endoglin co-receptor and ALK1 type 1 receptor, respectively.

Dr. Qamre Alam

Molecular Genomics and Precision Medicine Department, EXPRESSMED Diagnostics and Research, Bahrain
Dr. Alam is the Head of the Department of Molecular Genomics and Precision Medicine at EXPRESSMED Diagnostics and Research in Bahrain. With over 15 years of experience in teaching, research, and diagnostics, he previously worked as a Medical Research Scientist at the National Guard Hospital in Riyadh, Saudi Arabia, and as a Lecturer at King Abdulaziz University in Jeddah. Dr. Alam is also working as an Adjunct Assistant Professor at the College of Science, University of Bahrain. He has authored nearly 75 research articles and is the editor of the book Rare Genetic Disorders: Advancements in Diagnosis and Treatment, published by Springer.

Ms. Rahaf M. Ahmad

Ms. Rahaf M. Ahmad is a final-year Ph.D. candidate in the Department of Genetics and Genomic Medicine at the College of Medicine and Health Sciences, United Arab Emirates University. She holds a Bachelor of Science in Pharmacy from Yarmouk University and a Master of Science in Nanotechnology (Nanomedicine) from Jordan University of Science and Technology. Her doctoral research focuses on the development of advanced machine learning models to predict the pathogenicity of missense variants associated with breast cancer. Bridging wet-lab and dry-lab methodologies, she aims to foster innovation in precision medicine. Ms. Ahmad has made significant contributions to the field through peer-reviewed publications, international conference presentations, and active participation in research symposia. She also serves as an ambassador for Scifiniti Journals and as a peer reviewer for several esteemed journals, including PLOS ONE, PLOS Digital Health, Briefings in Bioinformatics and others.

Ms. Fadia Abu-Sailik

Ms. Fadia Abu-Sailik is a Ph.D. candidate in Biomedical Sciences at the Department of Genetics and Genomics, United Arab Emirates University. She is under the supervision of Prof. Bassam Ali. Her research focuses on elucidating the molecular mechanisms underlying genetic diseases associated with the TGFβ receptor 2 (TGFBR2). She holds a Master’s degree in Medical Laboratory Sciences from the University of Jordan. Her research interests lie in the intersection of molecular and cellular biology and genetic disorders.

Mrs. Hibat Omer

Mrs. Hibat Omer is a medical geneticist and the Founder & CEO of Genomics Hub, an Abu Dhabi-based platform specializing in genetic counseling and AI-driven genomic assistance. She is currently leading the Arabic translation of the Human Phenotype Ontology (HPO) to enhance access to standardized medical genetic terminology across the Arab world. Mrs. Omer is also the author of The Arab Genome: Culture, Tradition, and Religion, a pioneering guide that bridges genomics with the cultural and religious values of Arab communities.

Sami Bizzari

Human clinical genetics researcher with a passion for uncovering the molecular basis of rare genetic disorders. MSc.
Sami Bizzari is a clinical genetics researcher with a strong focus on the molecular basis of rare genetic disorders, particularly within consanguineous populations. With an MSc in Human Molecular Genetics from Imperial College London and over 7 years of experience at the Centre for Arab Genomic Studies in Dubai, Sami has contributed to the discovery of novel pathogenic variants and the characterization of previously unrecognized genetic conditions. His work spans scientific research, genetic database curation (notably the Catalogue for Transmission Genetics in Arabs), and public engagement through educational content and digital media. Sami is also a skilled event organizer, digital content developer, and student mentor, committed to using science, advocacy, and visual storytelling to improve patient outcomes.

Pratibha Nair

Researcher, Centre for Arab Genomic Studies, Hamadan Foundation
Pratibha Nair is a seasoned human genetics researcher with over 18 years of experience specializing in the molecular basis of genetic disorders, particularly in inbred populations. At the Centre for Arab Genomic Studies in Dubai, she has played a pivotal role in developing and curating the Catalogue for Transmission Genetics in Arabs (CTGA), contributing significantly to the understanding of genetic variants in Arab populations. Her expertise spans data analysis, international database integration, and collaborative research, with a strong publication record in peer-reviewed journals. She is also an active science communicator, having organized major genetics conferences, conducted CME-accredited workshops, and authored public-facing educational materials. Pratibha holds an M.Sc. in Biotechnology and a B.Sc. in Botany, both with distinction.

Nesreen Alkhofash

Doctor of Philosophy in Biomedical Sciences | Specialization in Genetics and Genomics | Molecular Genetics Researcher | ACE2 & B0AT1 Variants | Rare Disease & Therapeutic Research
Dr. Nesreen F. Al-Khofash holds a PhD in Biomedical Sciences with a specialization in Genetics and Genomics from the United Arab Emirates University. Her doctoral research, supervised by Prof. Bassam Ali, focused on the cellular trafficking and targeting of ACE2 and B0AT1 variants and their implications in disease pathogenesis and therapy. She also holds a Master’s degree in Molecular Medicine and Translational Research and a Bachelor’s degree in Biotechnology from the University of Sharjah, in addition to a European-accredited diploma in Aerobiology and Palynology from the University of Malaga, Spain. Dr. Al-Khofash has contributed to cancer and iron-biology research groups and supervised student trainees at the Sharjah Institute for Medical Research. She has presented her work at several national and regional conferences and remains actively engaged in rare disease and molecular genetics research

Tasnim Al. Fadl

Tasnim A. Fadl - Senior Genetic Counsellor ( Qatar Precision Health Institute)
Tasnim A. Fadl is a highly skilled and dedicated research genetic counsellor with more than 9 yeas of experience in genomic research field, specializing in the integration of clinical genetics and emerging genomic technologies. Working at the prestigious Qatar Genome Program- Qatar Precision Health Institute under the umbrella of Qatar Foundation. During her experience in Qatar Genome program, she have actively contributed to various research projects, collaborating with a multidisciplinary team of scientists, geneticists, and clinicians. In addition to her work in research, Tasnim has dedicated significant time to education initiatives and community outreach, aiming to make genetics more accessible, inclusive, and empowering for diverse populations. Her passion lies in translating complex genomic science into practical, compassionate care, while fostering public understanding and engagement with genetics.

Tabeer Fatima

Tabeer Fatima is a PhD student in the Department of Genetics and Genomics at the College of Medicine and Health Sciences, United Arab Emirates University (UAEU). Her research focuses on developing AI-driven tools to support the treatment and management of Inborn Errors of Metabolism (IEMs). She is leveraging Artificial Intelligence to systematically extract, structure, and optimize therapeutic knowledge for these rare metabolic disorders, aiming to enhance clinical decision-making and streamline care strategies.