Scientific Program

1st International MENA Medical Genetics Association Conference

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

TimeTopicSpeakerCountry
7:30-8:00 Breakfast and registration
Moderators: Prof. Majid Alfadhel – Prof Fatma Aljasmi
8:00-8:30 Opening Ceremony MENA-MGA MENA Logo MENA
8:30-8:40 MENA-MGA who we are? and by-law of the organization Prof. Fatma Aljasmi UAE Flag UAE
8:40-9:00 Establishment of different committees:
  • Genetic counselors committee
  • Guidelines committee
  • Metabolic dietitians committee
  • Molecular and Cytogenetics committee
MENA-MGA Board MENA Logo MENA
9:00-9:20 MENA-MGA current status and future plan Discussion panel: MENA-MGA Board MENA Logo 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 Flag USA
9:45-10:10 Integrating Genomic Medicine Into Dubai’s Academic Health Care System Dr. Ahmad Abou Tayon UAE Flag UAE
10:10-10:40 Rare Diseases and Precision Medicine: The Successive Paradigm Prof. Tawfeg Ben-Omran Qatar Flag 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 Flag 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 Flag Oman
11:55-12:15 Unexplained Joint Pain: Rare Answers to Common Symptoms Dr. Ghada Ahmed Otaify Oman Flag 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 Flag KSA
13:55-14:20 SLC25A42-related Mitochondrial Disorder: an Update Dr. Mohammed Almannai KSA Flag KSA
14:20-14:45 The Morbid Nuclear and Mitochondrial Genome of Mitochondrial Diseases in GCC Region Dr. Naif Almontashiri KSA Flag 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 Flag Italy
15:35-16:00 Combined Pituitary Hormone Deficiencies: Identification of Novel Gene associated with Neuroendocrine Syndrome Prof. Malak Alghamdi KSA Flag KSA
16:00-16:25 Beyond the Surface: Unraveling Gaucher vs ASMD Disease Dr. Hamda Belhoul UAE Flag 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

TimeTopicSpeakerCountry
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 attendees
Magles Meeting Room
  • 9:00-9:45: Introduction to Genomics and Genetic Databases
  • 9:30-10:15: Hands-on training
  • 10:15-10:30: Discussion and conclusion
Dr. Pratibha Nair
Dr. Sami Bizzari
UAE Flag 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 Flag 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 Flag UAE
09:50-10:20 Therapeutic Benefit Uncovered through anecdotal evidence: Two Exemplary Cases from the Clinic Dr. Khalid Al-Thihli Oman Flag 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 Flag 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 Flag UAE
11:50-12:20 Future therapies for metabolic conditions: the race between gene editing and small molecules Prof. Johannes Häberle Germany Flag 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 Flag 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 Flag KSA
14:25-14:55 Transport Vehicle™ (TV) Platform and Tividenofusp Alpha in Treatment of MPS II Prof. Daniel Fertek Switzerland Flag Switzerland
14:55-15:20 How Can a Routine ALP Test Lead to Diagnosis of Rare Disease Dr. Mariam AlShehhi UAE Flag UAE
15:20-15:50 Update on clinical trials for inborn errors of metabolism Prof. Johannes Häberle Germany Flag Germany
15:50-16:15 GenRare: An AI Assistant Tool for Rare Genetic Diseases: Early Diagnosis and Management Dr. Aamna AlShehhi UAE Flag 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

ward for the best
TimeTopicSpeakerCountry
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 Flag UAE
9:20-9:40 Cultural Dimensions in Genomic Science Dr. Hibat Omer UAE Flag 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 Flag 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 Flag UAE
11:00-11:20 From Genetic Diagnosis to Prevention: The Impact of PGTA and PGTM on Reproductive Health Dr. Qamre Alam Bahrain Flag 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 Flag 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 Flag USA
13:30-14:00 Assessment of urea cycle function by pathway analysis using stable isotopes Prof. Johannes Häberle Germany Flag Germany
14:00-14:30 Aicardi-Goutières syndrome (AGS) in the clinic: when genetic disease look like infection Dr. Laura Adang USA Flag 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