1st International MENA Medical Genetics Association Conference (MENA-MGA)
8-10th May 2025 • Mövenpick Grand Al Bustan Dubai • UAE
Day 1: Thursday 8th May 2025 – Clinical, Biochemical and Laboratory Genetics
| Time | Topic | Speaker | Country |
|---|---|---|---|
| 7:30-8:00 | Breakfast and registration | ||
| Moderators: Prof. Majid Alfadhel – Prof Fatma Aljasmi | |||
| 8:00-8:30 | Opening Ceremony | MENA-MGA |  MENA |
| 8:30-8:40 | MENA-MGA who we are? and by-law of the organization | Prof. Fatma Aljasmi |  UAE |
| 8:40-9:00 | Establishment of different committees:
|
MENA-MGA Board | MENA |
| 9:00-9:20 | MENA-MGA current status and future plan | Discussion panel: MENA-MGA Board | MENA |
| 9:20-9:45 | PhenoDB, GeneMatcher and VariantMatcher: Phenotypic and Genomic Federated Data Sharing To Facilitate Variant Classification and Disease Gene Discovery | Prof. Nara Sobreira |  USA |
| 9:45-10:10 | Integrating Genomic Medicine Into Dubai’s Academic Health Care System | Dr. Ahmad Abou Tayon | UAE |
| 10:10-10:40 | Rare Diseases and Precision Medicine: The Successive Paradigm | Prof. Tawfeg Ben-Omran |  Qatar |
| 10:40-10:50 | Discussion | ||
| 10:50-11:15 | Coffee break | ||
| Moderator: Dr. Fuad Al Mutairi – Dr. Mohammed Almannai | |||
| 11:15-11:35 | The RNA Exosome and Human Disease | Dr. Almundher Al-Maawali |  Oman |
| 11:35-11:55 | Whole Exome Sequencing for Fetal Structural Anomalies: Expanding the Diagnostic Yield in Prenatal Care – Royal Hospital Experiences | Dr. Nadia Alhashmi | Oman |
| 11:55-12:15 | Unexplained Joint Pain: Rare Answers to Common Symptoms | Dr. Ghada Ahmed Otaify | Oman |
| 12:15-12:25 | Discussion | ||
| 12:25-13:30 | Lunch break | ||
| Moderator: Prof. Moeenaldeen Al Sayed – Dr. Almundher Al Maawali | |||
| 13:30-13:55 | POLG-related Disorders: Clinical and Molecular Phenotypic Features in Saudi Arabia | Dr. Fuad Al Mutairi |  KSA |
| 13:55-14:20 | SLC25A42-related Mitochondrial Disorder: an Update | Dr. Mohammed Almannai | KSA |
| 14:20-14:45 | The Morbid Nuclear and Mitochondrial Genome of Mitochondrial Diseases in GCC Region | Dr. Naif Almontashiri | KSA |
| 14:45-15:15 | Coffee break | ||
| Moderator: Dr. Nawal Makhseed – Dr. Khalid Al-Thihli | |||
| 15:15-15:35 | Progress in Strategies to Overcome Blood-Brain Barrier for Rare Diseases with Neurological Manifestations | Prof. Maurizio Scarpa |  Italy |
| 15:35-16:00 | Combined Pituitary Hormone Deficiencies: Identification of Novel Gene associated with Neuroendocrine Syndrome | Prof. Malak Alghamdi | KSA |
| 16:00-16:25 | Beyond the Surface: Unraveling Gaucher vs ASMD Disease | Dr. Hamda Belhoul | UAE |
| 16:25-16:35 | Discussion | ||
| 18:00-20:00 | Gala Dinner | All attendees | |
| 20:00-20:05 | Closure of the first day | ||
Day 2: Friday 9th May 2025 – Clinical, Biochemical and Laboratory Genetics
| Time | Topic | Speaker | Country |
|---|---|---|---|
| 7:30-9:00 | Breakfast and registration | ||
| 9:00-10:30 | Genomic database: A Practical Guide for Clinicians Workshop (by Center for Arab Genomic Studies (CAGS)
Kindly ensure that you bring your laptop for Workshop Come first served Only for 40 attendeesMagles Meeting Room
|
Dr. Pratibha Nair Dr. Sami Bizzari |
UAE |
| Moderator: Dr. Hiba Al Bloushi – Prof. Malak Alghamdi | |||
| 09:00-09:25 | Leveraging Machine Learning Models for Early Diagnosis of Rare Genetic Disorders: A Case Study on Fabry Disease | Dr. Muhammad Jalal Khan | UAE |
| 09:25-09:50 | Delineating the Cellular Mechanisms of Endoplasmic Reticulum-Retained Endoglin Mutants Causing Hereditary Haemorrhagic Telangiectasia Type 1 | Dr. Nesrin Gariballa | UAE |
| 09:50-10:20 | Therapeutic Benefit Uncovered through anecdotal evidence: Two Exemplary Cases from the Clinic | Dr. Khalid Al-Thihli | Oman |
| 10:20-10:30 | Discussion | ||
| 10:30-11:00 | Coffee break | ||
| Moderator: Dr. Hamda Abulhoul – Dr. Maryam Alshehhi | |||
| 11:00-11:25 | Living Without Adipose Tissue: Uncovering the Genetic and Metabolic Puzzle of Congenital Lipodystrophy | Dr Jamal Aljubeh | UAE |
| 11:25-11:50 | Evaluation of GeneReviews as a Resource for Rare Disease Treatment and Management for Machine Learning Applications: A Case Study on Inborn Errors of Metabolism (IEMs) | Dr. Tabeer Fatima | UAE |
| 11:50-12:20 | Future therapies for metabolic conditions: the race between gene editing and small molecules | Prof. Johannes Häberle |  Germany |
| 12:20-12:45 | Precision in Prediction: Tailoring Machine Learning for Breast Cancer Missense Variants Integrating Dataset Selection with Model Interpretability for Pathogenicity Prediction | Dr. Rahaf M. Ahmad | UAE |
| 12:45-12:55 | Discussion | ||
| 12:55-14:00 | Friday Prayer and Lunch break | ||
| Moderator: Dr. Amal Al Tenaiji – Dr. Nuha Al Zaabi | |||
| 14:00-14:25 | The Power of Mendelian Genetics for Target Identification and Drug Development | Prof. Bruno Reversade | KSA |
| 14:25-14:55 | Transport Vehicle™ (TV) Platform and Tividenofusp Alpha in Treatment of MPS II | Prof. Daniel Fertek |  Switzerland |
| 14:55-15:20 | How Can a Routine ALP Test Lead to Diagnosis of Rare Disease | Dr. Mariam AlShehhi | UAE |
| 15:20-15:50 | Update on clinical trials for inborn errors of metabolism | Prof. Johannes Häberle | Germany |
| 15:50-16:15 | GenRare: An AI Assistant Tool for Rare Genetic Diseases: Early Diagnosis and Management | Dr. Aamna AlShehhi | UAE |
| 16:15-16:30 | Discussion | ||
| 16:30-17:00 | Closure of the second day | ||
Day 3: Saturday 10th May 2025 – Clinical, Biochemical and Laboratory Genetics
| Time | Topic | Speaker | Country |
|---|---|---|---|
| 8:30-9:00 | Breakfast and registration | ||
| Moderator: Dr. Sara Belfaqeeh – Dr. Fatima AlAli | |||
| 9:00-9:20 | Elucidating The Molecular Mechanisms of Human Monogenic Diseases Associated with TGFBR2 | Dr. Fadia Abu-Sailik | UAE |
| 9:20-9:40 | Cultural Dimensions in Genomic Science | Dr. Hibat Omer | UAE |
| 9:40-90:50 | Discussion | ||
| 09:50-10:20 | Coffee break | ||
| Moderator: Dr. Nadia Akawi – Dr. Ali Said Al Beshri | |||
| 10:20-10:40 | From Data to Decision: QPHI Experience | Ms. Tasnim A. Fadl | Qatar |
| 10:40-11:00 | Hartnup Disease-Causing SLC6A19 Mutations Lead to B0AT1 Aberrant Trafficking and ACE2 Mis-localisation Implicating the Endoplasmic Reticulum Protein Quality Control | Dr. Nesreen Al Khofash | UAE |
| 11:00-11:20 | From Genetic Diagnosis to Prevention: The Impact of PGTA and PGTM on Reproductive Health | Dr. Qamre Alam |  Bahrain |
| 11:20-11:50 | three hospitals done at different countries urine organic acids failed to diagnose a rare metabolic disease for 18 years | Dr. Nawal Makhseed |  Kuwait |
| 11:50-12:00 | Discussion | ||
| 12:00-13:00 | Lunch break | ||
| Moderator: Dr. Nadia Alhashmi – Prof Buruno Reversade | |||
| 13:00-13:30 | From gene to hope: Breakthrough therapies for the leukodystrophies | Dr. Laura Adang | USA |
| 13:30-14:00 | Assessment of urea cycle function by pathway analysis using stable isotopes | Prof. Johannes Häberle | Germany |
| 14:00-14:30 | Aicardi-Goutières syndrome (AGS) in the clinic: when genetic disease look like infection | Dr. Laura Adang | USA |
| 14:30-14:40 | Discussion | ||
| 14:40-14:55 | Coffee break | ||
| Moderator: Prof. Majid Alfadhel | |||
| 14:55-15:05 | Award for the best poster | Prof. Johannes Häberle Prof. Fatma Aljasmi |
|
| 15:05-15:50 | Registration for MENA-MGA, Comments from audiences regarding MENA-MGA future plans | Discussion panel: MENA-MGA Board | |
| 15:50-16:00 | Closure of The Symposium | ||