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