6th International Middle East Genetic and Metabolic (MEGMA)

October 30, 2025 – November 1, 2025

The Hotel Galleria - Curio Collection by Hilton Jeddah, KSA

6th International Middle East Genetic and Metabolic (MEGMA)
October 30, 2025 | 07:30 – 09:00 | Hall: A

07:30 – 08:30

“Registration”

Registration

08:30 – 09:00

““Opening Ceremony””

Prof. Majid Alfadhel

Saudi Arabia
Clinical, Biochemical and Laboratory genetics
October 30, 2025 | 09:00 – 10:50 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 30, 2025 | 10:50 – 13:30 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 30, 2025 | 13:30 – 15:30 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 30, 2025 | 15:30 – 20:05 | Hall: Hall A
Moderators
  • 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

6th International Middle East Genetic and Metabolic (MEGMA)
October 31, 2025 | 07:30 – 08:00 | Hall: Hall A

07:30 – 08:00

“Registration”

Registration

Genetic Counselling Workshop
October 31, 2025 | 08:00 – 09:15 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 31, 2025 | 09:15 – 11:00 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory Genetics
October 31, 2025 | 11:00 – 13:40 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 31, 2025 | 13:40 – 15:45 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
October 31, 2025 | 15:45 – 18:00 | Hall: Hall A
Moderators
  • 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

6th International Middle East Genetic and Metabolic (MEGMA)
November 1, 2025 | 07:30 – 09:00 | Hall: Hall A

07:30 – 09:00

“Registration”

Registration

Clinical, Biochemical and Laboratory genetics
November 1, 2025 | 09:00 – 11:00 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
November 1, 2025 | 11:00 – 13:30 | Hall: Hall A
Moderators
  • 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

Clinical, Biochemical and Laboratory genetics
November 1, 2025 | 13:30 – 16:00 | Hall: Hall A
Moderators
  • 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