MEGMA

Day 1: Thursday 31stOctober 2024
Clinical, Biochemical and Laboratory Genetics

8:00-8:15 Welcome Speech

Prof. Majid Alfadhel

Country: KSA

8:15-8:30 Speech of Chairperson of Oman Society of Genetic Medicine

Dr. Nadia Al Hashmi

Country: Oman

8:30-9:00 Opening Ceremony

Moderators:

Dr. Khalid Al-Thihli

Dr. Nadia Al Hashmi

9:00-9:30 The Approach of Developing Novel Therapy for Rare Diseases

Prof. Emil Kakkis

Country: USA | Sponsor: GenPharm

9:30-10:00 Fabry Disease: Key Challenges and Strategies in Management

Prof. Alberto Ortiz

Country: Spain | Sponsor: Sanofi

10:00-10:30 Carbonic Anhydrase VA (CA‐VA) Deficiency: Intrafamilial and Interfamilial Phenotypic Variability

Dr. Khalid Al‐Thihli

Country: Oman

10:30-10:40 Discussion

10:40-11:00 Coffee Break

Moderator:

Dr. AlMundher Almaawali

Dr. Maria Alhania

11:00-11:20 Response to Niacin Therapy in a Patient with NAXE Gene Defect

Dr. Fathyia AlMurshidi

Country: Oman

11:20-11:40 Overview on Mucopolysaccharidosis Type 10

Prof. Katta Girisha

Country: Oman

11:40-12:00 Not Simple Diarrhea: Genetics of Enteropathy

Dr. Nadia Al Hashmi

Country: Oman

12:00-12:10 Discussion

12:10-13:30 Lunch Break

Moderator:

Dr. Ilsa Crous

Dr. Malak Alghamdi

13:30-13:50 Outcome of Cases with Elevated 3-Hydroxyisovaleryl Carnitine: Report from Newborn Screening Program

Dr. Fuad Al Mutairi

Country: KSA

13:50-14:10 Living with Genetics and Genetic Disease: A Saudi Narrative

Prof. Zuhair Alhassnan

Country: KSA

14:10-14:30 Pediatric Spinal Muscular Atrophy, The Impact of Timely Diagnosis on Treatment Outcome

Speaker: TBD

Country: TBD | Sponsor: Biogen

14:30-15:00 How Can a Routine Alkaline Phosphatase Test (ALP) Lead to Diagnosis of a Rare Disease?

Speaker: TBD

Country: TBD | Sponsor: AstraZeneca

15:00-15:30 Coffee Break

Moderator:

Prof. Zuhair Al-Hassnan

15:30-17:00 Variants of Uncertain Significance (VOUS) and Carriership Findings in the Clinic: The Appropriate Approach to the Clinical Dilemma

Discussion Panel:

Prof. Amal Alhashem

Prof. Hamad Alzaidan

Dr. Hazim Najjar

18:00-20:00 Gala Dinner

All attendees

20:00-20:05 Closure of the First Day

Day 2: Friday 1st November 2023
Clinical, Biochemical and Laboratory Geneticsw

Epidermolysis Bullosa in MENA region: A 360° View

Moderator:

Prof. Majid Alfadhel

Prof. John McGrath

8:00-8:20 Molecular Epidemiology of Junctional Epidermolysis Bullosa (JEB) and Dystrophic EB (DEB) and Genetic Testing

Prof. John McGrath

Country: UK | Sponsor: Chiesi

8:20-8:40 Molecular Epidemiology of EB in the Arab Nation/Mutational Analysis

Dr. Arti Nanda

Country: Kuwait

8:40-9:00 Neonatal Care into Early Childhood

Dr. Mariam Iqneibi

Country: Qatar

9:00-9:40 The Evidence Base-Positive Step Forward

Prof. John McGrath

Country: UK | Sponsor: Chiesi

9:40-10:00 What is Happening in the Practice with the Introduction of Oleogel-S10 into the Clinic

Prof. Lucia Lospalluti

Country: Italy

10:00-10:45 Symptoms Management Clinic

4 Case Presentations (Each Case 10 Minutes)

Dr. Nancy Shehata (TBC), Dr. Khadija Sallemi (TBC), Dr. Nanda Arti (TBC), Dr. Buthaina Almusalhi (TBC)

Countries: KSA, Tunisia, Kuwait, Oman

10:45-11:05 Establishing an EB House

Shaden Abdel Hadi (TBC)

Country: UAE

11:05-11:30 MENA on the Map

All Participants

11:10-13:00 Friday Prayer and Lunch Break

Moderator:

Prof. Brahim Tabarki

Dr. Rana Felemban

13:00-13:30 Developing Gene Therapy for Liver Based Metabolic Disorders

Prof. Paul Gissen

Country: UK

13:30-13:50 Achondroplasia Navigating Growth Challenge and Management

Dr. Nandu Thalange

Country: UAE | Sponsor: BioMarin

13:50-14:10 Optimal Approach to the Management of Mucopolysaccharidosis (MPS)

Speaker: TBD

Country: TBD | Sponsor: BioMarin

14:10-14:40 Horizon Scanning for Novel Treatments for Neuronal Ceroid Lipofuscinoses, Batten Disease

Prof. Paul Gissen

Country: UK

14:40-15:00 Discussion

15:00-15:20 Coffee Break

15:20-15:40 Genetic Counseling in the Arab World: Challenges and Implication

Dr. Khalsa Alkhrousi

Country: Oman

15:40-16:00 Genetics of Skeletal Dysplasia – Local Experience from Early Oman

Dr. Ghada Otaifi

Country: Oman

16:00-16:20 Fumarase Deficiency or Co-enzyme Q10 Deficiency

Dr. Aisha Albulshi

Country: Oman

16:20-16:30 Discussion

Moderator: Dr. Seham Alameer

16:30-17:00 Case Presentations

Each Case 10 Minutes Followed by 5 Minutes Questions

17:00-17:05 Closure of the Second Day

Day 3: Saturday 2nd November 2024
Clinical, Biochemical and Laboratory Genetics

Moderator:

Dr. Ahmed Alfares

Dr. Abeer AlSayegh

8:30-9:00 The Modern Paradigm of Newborn Screening and Advanced Genetic Therapies

Prof. Tawfeg Ben-Omran

Country: Qatar

9:00-9:25 Integrating Genomics and Metabolomics to Improve Rare Disease Diagnostic Yield

Dr. Khalid Fakhro

Country: Qatar

9:25-9:45 Clinical and Molecular Characterization of Familial Hypercholesterolemia in Omani Population

Dr. Abeer AlSayegh

Country: Oman

9:45-10:05 Impact and Utility of Genomic Sequencing in Families with Chronic Kidney Disease in Oman

Dr. Intisar Alalwi

Country: Oman

10:05-10:20 Discussion

10:20-10:40 Coffee Break

Moderator:

Dr. Chantel Van Wyk

Dr. Mohammed AlMuqbil

10:40-11:00 The Medicine of Me, Personalized Health Care

Dr. Ahmed Alfares

Country: KSA

11:00-11:30 Friedreich Ataxia (FA): Understanding More to Reshape The Disease Course

Dr. Mohammed AlMuqbil

Country: KSA

11:30-11:55 Eurofins Megalab Expertise in Clinical Genetics, Next Generation Sequencing Services (NGS)

Dr. Maria Del Carmen Sanchez

Country: Spain

11:55-12:20 Evaluating the Benefits of Whole Genome Sequencing (WGS) Findings from 550 Pediatric Rare Diseases Cases from Middle East

Dr. Allison Faber

Country: Germany

12:20-12:30 Discussion

12:30-13:30 Lunch Break

13:30-13:50 Presentation and Award for the Best Abstract

Presenter: TBA

Presented by: Dr. Khadijah Bakur

Moderator:
Dr. Khalid Al‐Thihli

13:50-15:30 Perinatal Genetics: A Journey of Challenges. The Appropriate Approach

Discussion Panel:

Prof. Fatma Aljasmi

Prof. Tawfeg Bin Omran

Dr. Hind Alsharhan

Dr. Malak Alghamdi

Country: KSA

Day 1: Thursday 31stOctober 2024 Clinical, Biochemical and Laboratory Genetics

8:00-8:15 Welcome Speech

8:15-8:30 Speech of Chairperson of Oman Society of Genetic Medicine

8:30-9:00 Opening Ceremony

9:00-9:30 The Approach of Developing Novel Therapy for Rare Diseases

9:30-10:00 Fabry Disease: Key Challenges and Strategies in Management

10:00-10:30 Carbonic Anhydrase VA (CA‐VA) Deficiency: Intrafamilial and Interfamilial Phenotypic Variability

10:30-10:40 Discussion

10:40-11:00 Coffee Break

Moderator:

11:00-11:20 Response to Niacin Therapy in a Patient with NAXE Gene Defect

11:20-11:40 Overview on Mucopolysaccharidosis Type 10

11:40-12:00 Not Simple Diarrhea: Genetics of Enteropathy

12:00-12:10 Discussion

12:10-13:30 Lunch Break

Moderator:

13:30-13:50 Outcome of Cases with Elevated 3-Hydroxyisovaleryl Carnitine: Report from Newborn Screening Program

13:50-14:10 Living with Genetics and Genetic Disease: A Saudi Narrative

14:10-14:30 Pediatric Spinal Muscular Atrophy, The Impact of Timely Diagnosis on Treatment Outcome

14:30-15:00 How Can a Routine Alkaline Phosphatase Test (ALP) Lead to Diagnosis of a Rare Disease?

15:00-15:30 Coffee Break

Moderator:

15:30-17:00 Variants of Uncertain Significance (VOUS) and Carriership Findings in the Clinic: The Appropriate Approach to the Clinical Dilemma

18:00-20:00 Gala Dinner

20:00-20:05 Closure of the First Day

Day 2: Friday 1st November 2023 Clinical, Biochemical and Laboratory Geneticsw

Epidermolysis Bullosa in MENA region: A 360° View

Moderator:

8:00-8:20 Molecular Epidemiology of Junctional Epidermolysis Bullosa (JEB) and Dystrophic EB (DEB) and Genetic Testing

8:20-8:40 Molecular Epidemiology of EB in the Arab Nation/Mutational Analysis

8:40-9:00 Neonatal Care into Early Childhood

9:00-9:40 The Evidence Base-Positive Step Forward

9:40-10:00 What is Happening in the Practice with the Introduction of Oleogel-S10 into the Clinic

10:00-10:45 Symptoms Management Clinic

10:45-11:05 Establishing an EB House

11:05-11:30 MENA on the Map

11:10-13:00 Friday Prayer and Lunch Break

Moderator:

13:00-13:30 Developing Gene Therapy for Liver Based Metabolic Disorders

13:30-13:50 Achondroplasia Navigating Growth Challenge and Management

13:50-14:10 Optimal Approach to the Management of Mucopolysaccharidosis (MPS)

14:10-14:40 Horizon Scanning for Novel Treatments for Neuronal Ceroid Lipofuscinoses, Batten Disease

14:40-15:00 Discussion

15:00-15:20 Coffee Break

15:20-15:40 Genetic Counseling in the Arab World: Challenges and Implication

15:40-16:00 Genetics of Skeletal Dysplasia – Local Experience from Early Oman

16:00-16:20 Fumarase Deficiency or Co-enzyme Q10 Deficiency

16:20-16:30 Discussion

Moderator: Dr. Seham Alameer

16:30-17:00 Case Presentations

17:00-17:05 Closure of the Second Day

Day 3: Saturday 2nd November 2024 Clinical, Biochemical and Laboratory Genetics

Moderator:

8:30-9:00 The Modern Paradigm of Newborn Screening and Advanced Genetic Therapies

9:00-9:25 Integrating Genomics and Metabolomics to Improve Rare Disease Diagnostic Yield

9:25-9:45 Clinical and Molecular Characterization of Familial Hypercholesterolemia in Omani Population

9:45-10:05 Impact and Utility of Genomic Sequencing in Families with Chronic Kidney Disease in Oman

10:05-10:20 Discussion

10:20-10:40 Coffee Break

Moderator:

10:40-11:00 The Medicine of Me, Personalized Health Care

11:00-11:30 Friedreich Ataxia (FA): Understanding More to Reshape The Disease Course

11:30-11:55 Eurofins Megalab Expertise in Clinical Genetics, Next Generation Sequencing Services (NGS)

11:55-12:20 Evaluating the Benefits of Whole Genome Sequencing (WGS) Findings from 550 Pediatric Rare Diseases Cases from Middle East

12:20-12:30 Discussion

12:30-13:30 Lunch Break

13:30-13:50 Presentation and Award for the Best Abstract

Moderator: Dr. Khalid Al‐Thihli

13:50-15:30 Perinatal Genetics: A Journey of Challenges. The Appropriate Approach

15:30-16:00 Closure of The Symposium

Day 1: Thursday 31stOctober 2024
Clinical, Biochemical and Laboratory Genetics

Day 2: Friday 1st November 2023
Clinical, Biochemical and Laboratory Geneticsw

Day 3: Saturday 2nd November 2024
Clinical, Biochemical and Laboratory Genetics

Moderator:
Dr. Khalid Al‐Thihli