Physician Agenda AR – 1st International UAE Rare Disease Society Congress

البرنامج العلمي

Day 1 – Saturday, 25 February 2023
Day 2 – Sunday, 26 February 2023

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

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