Agenda
Track 1
Track 2
Workshop
Track 1
TRACK 1 – Genetics & Metabolic
| Time-In | Activity | Speaker |
|---|---|---|
| 8:00:00 AM | Welcome Message & Introduction | Dr. Nuha Al Zaabi |
| Session 1: Introduction to Metabolic Disorders. Moderators: Dr. Amal Al Jasmi |
||
| 8:10 AM | An Overview of Metabolic Disorders | Dr. Nuha Al Zaabi |
| 8:40 AM | Newborn Screening | Dr. Osama Al Dirbashi |
| 9:10 AM | Updates on Phenylketonuria / Patient Journey | Dr. Amal Altenaiji |
| 9:40 AM | Dysmorphsim; When to Think of Metabolic Disorders | Dr. Noura Al Dhaheri |
| 10:10 AM | Coffee Break | |
| 10:30 AM | Opening Ceremony | |
| Session 2: New Era of Treatment Moderator: Dr. Tawfeg Ben Omran |
||
| 11:00 AM | Therapeutic Approach to Metabolic Disorders | Dr. Fathiya Al Murshidi |
| 11:30 AM | Insights of Gene Therapy / Patient Journey | Dr. Tawfeg Ben Omarn |
| 12:00 PM | Gene Therapy for AADC Deficiency | Dr. Amal Al Hashem |
| 12:30 PM | Lunch Break | |
| Session 3: Metabolic Genetic Clinical Perspective “Moderator: Dr. Zuhair Rahbeeni “ Prof. Fatma Al Jasmi Dr. Amal Altenaiji Mr. Shivang Agarwal Moderator: Dr. Amal Alteniji |
||
| 1:30 PM | Insights of Hypophosphatasia | Dr. Fatma Al Jasmi |
| 2:00 PM | Overview of Long Chain Fatty Acid Oxidation Disorder (LCFAOD) and the Clinical Landscape (Sponsored) | Dr. Amal Altenaiji |
| 2:30 PM | The Complete Picture of Human Genome (Sponsored) | Mr. Shivang Agarwal |
| 3:00 PM | Coffee Break | |
| Session 4: Metabolic Genetic Clinical Perspective Moderator: Dr. Amal Alteniji |
||
| 3:30 PM | Glutaric Acidemia: Insights of 30 Years of Newborn Screening | Dr. Aziz Mhanni |
| 4:00 PM | Overturning The Natural History of SMA in Children and Adults (Sponsored) | Dr. Haitham El Bashir Biogen |
| 4:30 PM | Closing Remarks | Dr. Nuha Al Zaabi |
Track 2
TRACK 2 – Basic Science
| Time-In | Activity | Speaker |
|---|---|---|
| 9:00 AM | Welcome Message & Introduction | Prof. Bassam Ali |
| Session 1: Gene Discovery and Diagnsois 1 Moderator: Dr. Nadia Akawi Dr. Ahmad Al Saadi |
||
| 9:05 AM | UAEU Genomics Project on Rare Diseases | Dr. Hiba Alblooshi |
| 9:35 AM | Pitfalls of Research Exome Sequencing in Consanguineous Families | Dr. Almundher Al-Maawali |
| 10:05 AM | Coffee Break | |
| 10:30 AM | Opening Ceremony | |
| Session 2: Gene Discovery and Diagnsois 2 Moderator: Prof. Bassam Ali Prof. Amjad Mahasnah |
||
| 11:00 AM | Technological Breakthroughs for Rare Disease Research | Prof. Min Park |
| 11:30 AM | Innovative Approaches to Rare Disease Diagnosis: Disease Gene Discovery and Beyond | Dr. Ranad Shaheen |
| 12:00 PM | Spinal Muscular Atrophy (SMA) | Dr. Haitham Elbashir |
| 12:15 PM | Role of Inflammation and the NF-κB signaling pathway in Hirschsprung Disease | Ms. Enas Zoheer Mohamed Elkrewi |
| 12:30 PM | Lunch Break | |
| Session 3: Data Science and Machine Learning in Rare Diseases Moderator: Dr. Mushal allam Prof. Mohammed Ghattas |
||
| 1:30 PM | Data Science for Rare Diseases | Prof. Mohd Saberi Mohamad |
| 2:00 PM | Comparison of Machine Learning Models for Mucopolysaccharidosis Early-Stage Detection | Dr. Aamna Al Shehhi |
| 2:30 PM | Genetics of Cardiomyopathies and Related Disorders in UAE | Dr. Nadia Akawi |
| 3:00 PM | Coffee Break | |
| Session 4: Advanced Technologies in Rare Diseases Moderator: Prof. Mohd Saberi Dr. Mariam Al Harbi |
||
| 3:30 PM | BioInformatics – Big Data and Precision Medicine | Prof. Mohammad Asif Khan |
| 4:00 PM | Deficiency of Acyl-CoA Synthetase 5 (ACSL5) is Associated with a Severe and Treatable Failure to Thrive of Neonatal Onset | Dr. Nadia Alhashmi |
| 4:15 PM | Endothelial (barrier) Function in Mucopolysaccharidosis | Ms. Magdalena Gastager |
| 4:30 PM | Closing Remarks | Prof Bassam Ali |
Workshop
TRACK 2 – Basic Science
| Time | Activity | Speaker |
|---|---|---|
| 4:30 PM – 5:30 PM | Workshop: Newborn Screen Workshop | Dr. Osama Al Dirbashi |
| Dr. Madiha Fathi Ibrahim |
Track 1
Track 2
Track 3
Workshop
Track 1
TRACK 1 – Genetics & Metabolic
| Time-In | Activity | Speaker |
|---|---|---|
| Session 1: Metabolic Genetics Moderator: Dr. Noor Alsiri Almeheiri Dr. Omar Esmaeel |
||
| 8:00 AM | Newly discovered Autosomal Recessive Disorder | Dr. Maryam Al Shehhi |
| 8:30 AM | Porphyria, Insights on New Treatment | Dr. Nadia Al Hashmi |
| 9:00 AM | Insights About Leukodystrophy | Dr. Aman Sohal |
| 9:30 AM | X-Linked Hypophosphatemic Rickets: The link between basic science and patient care (Sponsored) | Prof. Asma Deeb |
| 10:00 AM | Coffee Break | |
| Session 2: Lysosomal Storage Disease Moderator: Prof. Fatma Al Jasmi |
||
| 10:30 AM | New Hopes in the Management of ASMD (Niemann Pick Type A\B, B) and Pompe Disease (Sponsored) | Dr. Amal Altenaiji Sanofi |
| 11:00 AM | Updates on MPSII | Dr.Fatima Abdelaziz |
| 11:30 AM | Updates in the management of Gaucher Type 3 (Sponsored) | Dr. Fatih Ezgu |
| 12:00 PM | Alpha Mannosidosis (Sponsored) | Dr. Fatma Al Jasmi |
| 12:30 PM | Connecting the Dots between LAL-D and Liver Diseases (Sponsored) | Dr. Suresh Vijay |
| 1:00 PM | Lunch Break | |
| Session 3: Small Molecules Disorders Moderator: Dr. Lemya al Zaabi Dr. Hamda Belhoul |
||
| 2:00 PM | Insights About Hyperammonemia | Dr. Hamda Belhoul |
| 2:30 PM | Insights on Fatty Acid Oxidation Disorders | Dr. Malak Al Ghamdi |
| 3:00 PM | Inborn Error of Metabolism Causing Neonatal Seizure | Dr. Nuha Al Zaabi |
| 3:30 PM | Updates on Homocystinuria | Dr. Tawfeg Ben Omran |
| 4:00 PM | Coffee Break | |
| 4:30 PM | Insight About Myasthenia Gravis | Dr. Fatmah Al Zahmi |
| 5:00 PM | Closing Ceremony | Dr. Nuha Al Zaabi |
Track 2
TRACK 2 – Basic Science
| Time | Activity | Speaker |
|---|---|---|
| Session 5: Gene Discovery and Diagnosis 3 Moderator: Prof. Bassam Ali Prof. Rabih Halwani |
||
| 9:00 AM | Leveraging Multi-omic Approaches to Improve the Diagnostic Yield for Rare Diseases | Dr. Khalid Fakhro |
| 9:30 AM | Genetics of Hearing Loss in UAE | Dr. Abdelaziz Tlili |
| 10:00 AM | Coffee Break | |
| Session 6: Disease Mechanisms Moderator: Dr. Hiba Al-Blooshi Dr. Abdelaziz Tlili |
||
| 10:30 AM | Genetics of Cardiomyopathies and Related Disorders in UAE | Dr. Nadia Akawi |
| 11:00 AM | Cellular Mechanisms of Rare Diseases | Prof. Bassam Ali |
| 11:30 AM | TBA | Prof. Rabih Halwani |
| 12:00 PM | Next Generation Sequencing for the Diagnosis of Rare Diseases | Prof. Nor Azian Abdul Murad |
| 12:30 PM | Q&A Session | |
| 1:00 PM | Lunch Break | |
| Session 7: Prevention and Miscellaneous Moderator: Dr. Muna AlSafar Dr. Ranad Shaheen |
||
| 2:00 PM | Role of Genetic Testing in Preventive Medicine and Community Service | Dr. Azza Attia |
| 2:30 PM | The Role of WGS in Prenatal Diagnosis of the Fetus with Congenital Malformations | Prof. Mark Kilby |
| 3:00 PM | Understanding Neurodevelopmental Disorders Through Single Cell OMICs | Dr. Mohammed Uddin |
| 3:30 PM | Coffee Break | |
| 4:00 PM | Discovering Novel Therapies for Rare Diseases: Lessons from GM1-Gangliosidosis Disease | Dr. Feda Mohamed |
| 4:15 PM | Current approaches for genome Editing therapy in humans and patients with Huntington disease | Mrs. Noor AlSaffar |
| 4:30 PM | Impact of Rare Disease and its Management on Patients and Health Care Providers in Gulf Countries: Results of Social Analytics Study | Dr. Ali Aljabban |
| 5:00 PM | Closing Ceremony- Winners | |
Track 3
TRACK 3 -Subspecialty
| Time | Activity | Speaker |
|---|---|---|
| Session 1: Nephrology Moderator: Dr. Mohammed El Fakky |
||
| 9:00 AM | Cystinosis in Pediatrics | Dr. Zubaida Masoud |
| 9:30 AM | Renal Disease and Complements Dysregulation | Dr. Entesar Al Hammadi |
| 10:00 AM | TBA | Dr. Watfa Al Dhaheri |
| 10:30 AM | Coffee Break | |
| Session 2: Hematology and Oncology Moderator: Dr. Ammar Morad |
||
| 11:00 AM | Cancer Predispostion Syndrome | Dr. Noura Al Dhaheri |
| 11:30 AM | Neurofibromatosis Type 1 update | Dr. Eman Taryam |
| 12:00 PM | Gene Therapy for Sickle Cell and B-Thalassemia | Dr. John Philips |
| 12:30 PM | Spotlight on Glanzmann’s Thrombasthenia | Prof. Ahmad Tarawa |
| 1:00 PM | Lunch Break | |
| Session 3: Endocrine and Pulmonary Moderator: Dr. Aqeel Farooq |
||
| 2:00 PM | Congenital Lipostrophy | Dr. Elham Al Ameeri |
| 2:30 PM | Is Inborn Error of Immunity a Rare Disease? | Dr. Suleiman Alhammadi |
| 3:00 PM | Childhood Interstitial lung Disease | Dr. Majed Altenaji |
| 3:30 PM | Coffee Break | |
| Session 4: Rheumatology Moderator: Dr. Madiha Fathi |
||
| 4:00 PM | Auto Inflammatory Disorders | Dr. Elsadeg Sharif |
| 4:30 PM | Chronic Urticarial Rash | Dr. Najla Al Jaberi |
| 5:00 AM | Closing ceremony | |
Workshop
| Time | Activity | Speaker |
|---|---|---|
| 03:00 PM – 04:00 PM | Workshop: Inheritance | Dr. Moeen Al Sayed |
© Copyright 2022 UAE Rare Disease Society