6th International Middle East Genetic and Metabolic (MEGMA)
07:30 – 08:30
“Registration”
Registration
08:30 – 09:00
““Opening Ceremony””
Prof. Majid Alfadhel
Saudi Arabia
- Dr. Mahmoud Almotadsres
- Dr. Aiman Shawli
09:00 – 09:30
“N-acetyl-L-leucine (Aqneursa) as a Potential novel treatment For Niemann-Pick Disease Type C”
Prof. Marc Patterson
United States of America
09:30 – 10:00
“Gene Therapy for Rare Diseases: Focus on Lysosomal Storage Disorders (LSD’s)”
Prof. Moeenaldeen AlSayed
Saudi Arabia
10:00 – 10:20
“Fabry Disease: Invisible or Overlooked?A Call for Collaboration”
Dr. Roberto Barriales
Spain
10:20 – 10:30
“Discussion”
Discussion
10:30 – 10:50
“Coffee break”
Coffee break
- Prof. Khalid Khalaf Alharbi
- Prof. Malak Alghamdi
10:50 – 11:15
“MENA Founder Variants: Advancing Precision Medicine and Drug Innovation”
Prof. Tawfeg Ben-Omran
Qatar
11:15 – 11:40
“mRNA Science: This Changes Everything”
Dr. Gamal Elfatarany
Switzerland
11:40 – 12:00
“A New Era in Achondroplasia Care: from Guidelines to Practice.”
Prof. Klaus Mohnike
Germany
12:00 – 12:10
“Discussion”
Discussion
12:10 – 13:30
“Lunch Break”
Lunch break
- Dr. Taghreed Shuaieb
- Dr. Rana Felimban
13:30 – 13:55
“Developing a National Policy for Genetic Diseases: the Saudi Project”
Prof. Zuhair Al-Hassnan
Saudi Arabia
13:55 – 14:20
“Redefining Hope in Spinal Muscular Atrophy (SMA) : Pushing the Boundaries with Emerging Therapies”
Dr. Ahmed Bamaga
Saudi Arabia
14:20 – 14:40
“When Hearing Loss Tells a Bigger Story: Alpha-Mannosidosis Diagnosis and the Impact of Velmanase Alpha therapy”
Dr. Haifaa Al Zahrani
Saudi Arabia
14:40 – 15:00
“Are acute porphyrias acute or should they be seen as chronic diseases?”
Prof. Richard Hift
South Africa
15:00 – 15:10
“Discussion”
Discussion
15:10 – 15:30
“Coffee break”
Coffee break
- Dr. Haifaa Al Zahrani
- Dr. Seham Alamir
15:30 – 15:55
“Riboflavin Transporter Deficiency: a Regional Cohort with Longitudinal Follow Up”
Dr. Khalid Al-Thihli
Oman
15:55 – 16:20
“New approaches to targeting receptors and transporters at the BBB for protein delivery to the CNS”
Dr. Robert Thorne
United States of America
16:20 – 16:45
“Tividenofusp Alfa in treatment of MPS II”
Dr. Joseph Muenzer
United States of America
16:45 – 17:05
“Yield of Whole Genome Sequencing in a Single-Center Experience at the Royal Hospital, Oman”
Dr. Nadia Alhashmi
Oman
17:05 – 17:15
“Discussion”
Discussion
18:00 – 20:00
“Gala Dinner”
Gala Dinner
20:00 – 20:05
“Closure of the first day”
Closure of the first day
07:30 – 08:00
“Registration”
Registration
- Ms. Maha Alshalan
- Dr. Khadijah Bakur
08:00 – 08:25
“Expanded Premarital Screening: Qatar's Vision for Personalized. Prevention”
Dr. Reem Alsulaiman
Qatar
08:25 – 08:50
“Expanded Premarital Programs: Between Social Good and Ethical Boundaries”
Ms. Shatha Alhefdhi
Saudi Arabia
08:50 – 09:00
“Discussion”
Discussion
09:00 – 09:15
“Coffee break”
Coffee break
- Dr. Mohamed Almuqbil
- Dr. Deema Aljeaid
09:15 – 09:40
“Primary Hyperoxaluria: A guide to Management and Treatment”
Dr. Sermin Saadeh
Saudi Arabia
09:40 – 10:05
“Urea cycle disorders: an Update”
Dr. Maha Faden
Saudi Arabia
10:05 – 10:30
“Fabry Focus: Insights to Impact”
Dr. Noura Alsaleh
Saudi Arabia
10:30 – 10:40
“Discussion”
Discussion
10:40 – 11:00
“Coffee break”
Coffee break
- Dr. Anar Farsi
- Prof. Mohamed Sarar
11:00 – 11:25
“Treatment Outcome Following Miglustat Therapy in Patients with Niemann-Pick Disease Type C”
Prof. Marc Patterson
United States of America
11:25 – 11:45
“Clinical Research in PKU: Bridging Science and Patient Care”
Dr. Amaya Belanger
Spain
11:45 – 12:05
“Gaucher Disease: Advancing Early Diagnosis, Awareness, and Optimal Care”
Dr. Manal Afqi
Saudi Arabia
12:05 – 12:25
“CAD Mutation Disorder: Diagnostic Clues and Treatment Solutions”
Dr. Dia Arafah
Saudi Arabia
12:25 – 12:35
“Discussion”
Discussion
12:35 – 13:40
“Friday Prayer and Lunch break”
Friday Prayer and Lunch break
- Dr. Noor Ahmed
- Dr. Zohor Azhar
13:40 – 14:00
“Advances in DMD Care”
Dr. Mohamed Almuqbil
Saudi Arabia
14:00 – 14:25
“Optimizing Long-Term Management of MPS IVA and VI: Evidence, Adherence, and Multidisciplinary Care”
Prof. Mohamed Sarar
Saudi Arabia
14:25 – 14:50
“Long-term Management of HPP: Insights and Experiences from Saudi Arabia’s Eastern Region”
Dr. Rawdah Sunbul
Saudi Arabia
14:50 – 15:15
“Clinical applications of Long Read Sequencing”
Dr. Ahmad Abou Tayon
United Arab Emirates
15:15 – 15:25
“Discussion”
Discussion
15:25 – 15:45
“Coffee break”
Coffee break
- Dr. Wed Majdali
- Prof. Tawfeg Ben-Omran
15:45 – 16:10
“A Decade with lomitapide: Transforming HoFH Management”
Dr. Ahmed Alsarraf
Kuwait
16:10 – 16:35
“Nutrition and Medical Management of Long-Chain fatty acid oxidation disorder”
Prof. Melanie Gillingham
United States of America
16:35 – 16:55
“Familial Obesity driven by uncontrolled Lipid Droplet enlargement in Adipocytes”
Prof. Bruno Reversade
Saudi Arabia
16:55 – 17:05
“Discussion”
Discussion
17:05 – 17:10
“Closure of the second day”
Closure of the second day
17:10 – 18:00
“Poster Walk”
Poster Walk
07:30 – 09:00
“Registration”
Registration
- Dr. Ghadah Jad
- Dr. Nadia Alhashmi
09:00 – 09:25
“Causes and Next Steps for Negative Genetic Test Results”
Dr. Fahad Al-Hakami
Saudi Arabia
09:25 – 09:45
“stroke-like Episodes in Neurometabolic Disorders: Mechanisms and Management”
Prof. Brahim Tabarki
Saudi Arabia
09:45 – 10:10
“Risk and potential ChatGpt in scientific publishing”
Prof. Marc Patterson
United States of America
10:10 – 10:30
“Taiwan’s Newborn Screening: From Traditional Panels to a Pilot Whole-Genome Sequencing (WGS) Initiative”
Dr. Niu Dau-Ming
Taiwan
10:30 – 10:40
“Discussion”
Discussion
10:40 – 11:00
“Coffee break”
Coffee break
- Dr. Fahad Al-Hakami
- Prof. Brahim Tabarki
11:00 – 11:25
“The Long and Short of it: Local Experience with Sequencing Technology”?”
Prof. Fowzan Alkuraya
Saudi Arabia
11:25 – 11:50
“AI_Powered Precision: AI for rare diseases”
Prof. Fatma Aljasmi
United Arab Emirates
11:50 – 12:15
“XPR1 Mutations Causing New Recessive Disease”
Dr. Almundher Al-Maawali
Oman
12:15 – 12:25
“Discussion”
Discussion
12:25 – 13:30
“Lunch break”
Lunch break
- Prof. Fatma Aljasmi
- Dr. Rawdah Sunbul
13:30 – 13:55
“Increasing Diagnostic Yield for Rare Diseases Through Next Generation Genomic Technologies”
Prof. Khalid Fakhro
Qatar
13:55 – 14:20
“A Novel Metabolic Syndrome with Severe Dilated Cardiomyopathy and Edwards-Like Phenotype”
Prof. Malak Alghamdi
Saudi Arabia
14:20 – 14:45
“Al in Genetic Counseling: Amplifying Human Expertise and Raising Public Awareness for a Healthier Future”
Ms. Tarfa Alshamsi
Saudi Arabia
14:45 – 15:05
“Toward Personalized Transplant Care: Precision and Genomic Medicine in Advancing Hematopoietic Stem Cell and Renal Transplantation”
Ms. Reem Ibrahim
Qatar
15:05 – 15:15
“Discussion”
Discussion
15:15 – 15:35
“Coffee Break”
Coffee break
15:35 – 15:50
“Award for the best poster”
Prof. Majid Alfadhel
Saudi Arabia
15:50 – 16:00
“Closure of The Symposium”
Closure of The Symposium