Scientific Program
TIME PROGRAM
08:00 – 09:30 Registration
09:30 – 10:30 Opening Ceremony and Coffee Break
10:30 – 13:00 Module 1: Diabetes & Metabolic Disorders

Moderators: Bassam Ali & Riad Bayoumi

10:30 – 11:10 Keynote Lecture I: Diamonds in the Dirt: Using Genetics and Genomics to Inform Biology and Treatment of Type 2 Diabetes
Mark McCarthy
11:10 – 11:30

 

Keynote Lecturer II: Meta Analyses Conducted by CAGS: HLA Class II and Type 1 Diabetes in Arabs
Abdul Rezzak Hamzeh
11:30 – 11:50 High Prevalence of MODY Variants in Patients Previously Diagnosed with Gestational Diabetes

Anette Gjesing

11:50 – 12:10 Analysis of Genetic Variation in Obesity Genes in Worldwide Populations and Evolutionary Origin of Obesity                                                                                                 
Vadim Stepanov
12:10 -12:30 Application of Urinary C-peptide to Creatinine Ratio (UCPCR) for Discrimination of Maturity Onset Diabetes of the Young (MODY) in the Emirati Population

Hinda Daggag

12:30 – 13:00 Panel Discussion
13:00 – 14:00 Lunch
14:00 – 17:30 Module 2: Genetics of Neurodevelopmental Disorders

Moderators: Habiba Chaabouni & Andre Megarbane

14:00 – 14:45 Keynote Lecture III: Primary Microcephalies and Primordial Microcephalic Dwarfisms

Alain Verloes

14:45 – 15:05 CRISPR-Cas9 Genome Editing for Cellular Modeling of Microcephaly                                                                                                                           

Ganeshwaran Mochida

15:05 – 15:30 Whole Exome Sequencing In Genetic Isolates – A Founder Mutation of the C12orf4 Gene Underlies Autosomal Recessive Non-Syndromic Intellectual Disability (NSID)                                                                                                                                        

Irma Jarvela

15:30 – 16:00 Coffee Break
16:00 – 16:45 Keynote Lecture IV: Neuromuscular Disorders and Rehabilitation
Andre Megarbane
16:45 – 17:05 Computational Approach towards Targeting Aggregate Formation in Synucleinopathies

Mohammad Ansari

17:05 – 17:30 Panel Discussion
TIME PROGRAM
09:00 – 12:00 Module 3: Role of Sequencing in Diagnosis of Congenital Disorders
Moderators: Hanan Hamamy, Moein Kanaan & Lihadh Al Gazali
09:00 – 09:45 Keynote Lecture V: From Genome Exploration to the Genome Clinic
Stylianos Antonarakis
09:45 – 10:05 KCNA4 Deficiency Leads to a Syndrome of Abnormal Striatum, Congenital Cataract, and Intellectual Disability
Mohammed Al-Owain
10:05 – 10:25 Exome Sequencing Reveals a Novel Gene Associated with Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Salma Majid
10:25 – 11:00 Coffee Break
11:00 – 11:20 Consanguinity and Genetic Disorders in Qatar
Tawfeg Ben-Omran
11:20 – 11:50 Panel Discussion
12:00 – 14:00 Friday Prayers and Lunch
14:00 – 17:30 Module 4: Cancer Genomics
Moderators: Moiz Bakheet & Lofti Chouhane
14:00 – 14:45 Keynote Lecture VI: The Rise and Fall of Genomics
John Burn
14:45 – 15:05 Genetics of Breast and Colon Cancer in a Highly Consanguineous Population, Challenges and Lessons Learned So Far
Abeer Alsaegh
15:05 – 15:25 DNA Methylation Regulated Genes as Diagnostic Markers in Cervical Cancer
Shama Prasada Kabekkodu
15:25 – 16:00 Coffee Break
16:00 – 16:20 Machine Learning to Fully Exploit Integrated Genomics and Clinical Data for Cancer Prognostic Systems
Emad Elsebakhi
16:20 – 16:30 Panel Discussion
16:30 – 17:40 Closing Session

Genetic Counselling Workshop Program

TIME PROGRAM
09:00 – 09:05 Introduction
09:05 – 10:00 What Is Genetic Counselling?

– Qualifications And Training Needed to Work as a Genetic Counsellor in the UK and Reciprocity of Registration within the Genetic Counselling Profession

– Core Theoretical Frameworks that Guide Practice

– Ethical Principles that Guide Practice

– Counselling Supervision

10:00 – 10:45 The Work Of A Genetic Counsellor

– The Multidisciplinary Approach to Care

– The Types of Patients Genetic Counselors See on their Own

– The Specialist Clinics that Genetic Counsellors Run

10:45 – 11:15 Coffee Break
11:15 – 12:00 How Can Genomics ne Used in the Clinic?

– Who Can Receive Sequencing in a Clinical Setting

– The Impact of Genomics on Counselling Practice

12:00 – 12:45 Genomics And Ethics

– What to Do with Incidental Findings from Sequencing Studies

– What Information Do People Want to Know?

12:45 – 13:45 Lunch
13:45 – 14:15 Case Study 1: Exploring a Diagnosis for Developmental Disorders and the Counselling Issues
14:15 – 14:45 Case Study 2: Pre Symptomatic Testing in Huntington’s Disease and Counselling Issues
14:45 – 15:15 Case Study 3: Pre-Natal Testing and PGD and Counselling Issues
15:15 – 15:45 Case Study 4: Genetic Counselling and Disability (Using Deafness as an Example)

*Please note that the scientific program is subject to change without prior notice