1st MEGMA Basic Genetics and Inborn Errors of Metabolism Diagnostic and Therapeutics

Date: June 5, 2026 Time: 07:30 - 13:30 Hall: Hall

Lectures / Talks:

08:30 - 09:00: "Opening Remarks"

Prof. Majid Alfadhel

Saudi Arabia

30 minutes
09:00 - 09:20: "Important Concepts in Genetics"

Dr. Mohammed Almuqbil

Saudi Arabia

20 minutes
09:20 - 09:40: "Syndromes that Every Geneticist Should Know"

Dr. Mohammed Almuqbil

Saudi Arabia

20 minutes
09:40 - 10:00: "Rare Lipid Disorders in Pediatric Patients"

Prof. Mohammed Al-Dubayee

Saudi Arabia

20 minutes
10:00 - 10:10: "Discussion"

Discussion

10 minutes
10:10 - 10:25: "Coffee break"

Coffee break

15 minutes
10:25 - 10:45: "Clinical Cytogenetics -1"

Dr. Bader Almuzaini

Saudi Arabia

20 minutes
10:45 - 11:05: "Clinical Cytogenetics -2"

Dr. Bader Almuzaini

Saudi Arabia

20 minutes
11:05 - 11:25: "Updates in the Management of Primary Hyperoxaluria Type 1"

Prof. Majid Alfadhel

Saudi Arabia

20 minutes
11:25 - 11:30: "Discussion"

Discussion

5 minutes
11:30 - 13:10: "Friday Prayer and Lunch Break"

Friday Prayer and Lunch break

100 minutes

Date: June 5, 2026 Time: 13:30 - 20:05 Hall: Hall

Lectures / Talks:

13:10 - 13:30: "Metachromatic Leukodystrophy (MLD): Disease Burden and Recent Therapeutic Advances"

Dr. Mohammed Almuqbil

Saudi Arabia

20 minutes
13:30 - 13:55: "Molecular Genetics -1"

Dr. Abdullah Alfalah

Saudi Arabia

25 minutes
13:55 - 14:20: "Molecular Genetics -2"

Dr. Abdullah Alfalah

Saudi Arabia

25 minutes
14:20 - 14:45: "Bayesian Analysis and Risk Assessment"

Dr. Hajer Alaqeel

Saudi Arabia

25 minutes
14:45 - 15:05: "Restoring Hope: The Therapeutic Journey in AADC Deficiency"

Dr. Aqeela Alhashim

Saudi Arabia

20 minutes
15:05 - 15:15: "Discussion"

Discussion

10 minutes
15:15 - 15:30: "Coffee Break"

Coffee break

15 minutes
15:30 - 15:55: "Newborn screening and Tandem Mass Spectrometry (TMS) -1"

Dr. Mohammed Almannai

Saudi Arabia

25 minutes
15:55 - 16:10: "PKU Management Updates"

Prof. Fuad Almutairi

Saudi Arabia

15 minutes
16:10 - 16:45: "Plasma Aminocids -1 & -2"

Prof. Fuad Almutairi

Saudi Arabia

35 minutes
16:45 - 17:05: "Lysosomal Acid Lipase ( LAL) deficiency Overview and Treatment Landscape"

Prof. Majid Alfadhel

Saudi Arabia

20 minutes
17:05 - 17:15: "Discussion"

Discussion

10 minutes
17:15 - 17:20: "Closure Of The First Day"

Prof. Majid Alfadhel

Saudi Arabia

5 minutes

Date: June 6, 2026 Time: 08:30 - 13:30 Hall: Hall

Lectures / Talks:

08:30 - 08:55: "Newborn Screening and Tandem Mass Spectrometry (TMS)-2"

Dr. Mohammed Almannai

Saudi Arabia

25 minutes
08:55 - 09:20: "Urine for Organic Acids-1"

Dr. Ahmed Alodaib

Saudi Arabia

25 minutes
09:20 - 09:45: "Urine for Organic Acids-2"

Dr. Ahmed Alodaib

Saudi Arabia

25 minutes
09:45 - 10:10: "The Art of Molecular Matchmaking: Primer Design How To Do It?"

Dr. Mohammed Umair

Saudi Arabia

25 minutes
10:10 - 10:20: "Discussion"

Discussion

10 minutes
10:20 - 10:40: "Coffee Break"

Coffee break

20 minutes
10:40 - 11:05: "Biochemical Genetics -1"

Prof. Malak Alghamdi

Saudi Arabia

25 minutes
11:05 - 11:30: "Biochemical Genetics -2"

Prof. Malak Alghamdi

Saudi Arabia

25 minutes
11:30 - 11:55: "Update on the Diagnosis and Treatment of Inborn Errors of Metabolism"

Prof. Majid Alfadhel

Saudi Arabia

25 minutes
11:55 - 12:15: "Interpretation of WGS/WES"

Dr. Najim Ameziane

Saudi Arabia

20 minutes
12:15 - 12:25: "Discussion"

Discussion

10 minutes
12:25 - 13:30: "Lunch Break"

Lunch break

65 minutes

Date: June 6, 2026 Time: 13:30 - 17:00 Hall: Hall

Lectures / Talks:

13:30 - 13:50: "Basic Genetics-1"

Prof. Zuhair Al-Hassnan

Saudi Arabia

20 minutes
13:50 - 14:10: "Basic Genetics-2"

Prof. Zuhair Al-Hassnan

Saudi Arabia

20 minutes
14:10 - 14:30: "Whole Exome Sequencing and Whole Genome Sequencing Interpretation"

Dr. Ali Tabish

Saudi Arabia

20 minutes
14:30 - 14:50: "Lysosome Storage Disorders"

Prof. Malak Alghamdi

Saudi Arabia

20 minutes
14:50 - 15:20: "LC-FAOD Overview"

Dr. Maha AlOtaibi

Saudi Arabia

30 minutes
15:20 - 15:30: "Discussion"

Discussion

10 minutes
15:30 - 15:45: "Coffee Break"

Coffee break

15 minutes
15:45 - 16:05: "Reproductive Genetics"

Prof. Majid Alfadhel

Saudi Arabia

20 minutes
16:05 - 16:25: "MCQ Preparation Tips"

Dr. Hamad Althiyab

Saudi Arabia

20 minutes
16:25 - 16:45: "Hunter Syndrome (MPS II): Disease Burden and Recent Therapeutic Advances"

Dr. Mohammed Almannai

Saudi Arabia

20 minutes
16:45 - 17:05: "Epidermolysis Bullosa Highlights"

Dr. Hamad Althiyab

Saudi Arabia

20 minutes
17:05 - 17:15: "Discussion"

Discussion

10 minutes
17:15 - 17:30: "Closure Of The Course"

Prof. Majid Alfadhel

Saudi Arabia

15 minutes

Program Schedule