Scientific Concurrent Session: Al Thuraya B
Rare Ophthalmologic Disorders
Chairperson: Dr. Rola Ba-Abbad
Senior Consultant Ophthalmologist, Ocular Genetics, Electrophysiology of Vision & Medical Retina, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
08:30 AM - 08:50 AM
The clinical and mutational spectrum of Bardet-Biedl syndrome in Saudi Arabia
Dr. Rola Ba-Abbad
Senior Consultant Ophthalmologist, Ocular Genetics, Electrophysiology of Vision & Medical Retina, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
08:50 AM - 09:10 AM
When pediatric cataract is a sign of undiagnosed systemic disease
Prof. Arif O. Khan
Chair of Pediatric and Neuro-ophthalmology, Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
09:10 AM - 09:30 AM
Navigating retinal disorders in a pediatric ophthalmology clinic
Dr. Imran Jawaid
Consultant Pediatric Ophthalmologist, Moorfields Eye Hospital, Dubai, UAE
Community Support Session: Al Thuraya A
Psychosocial Challenges in Rare Diseases
Chairperson: Prof. Rasheed Alhammadi
Advisor Research and Innovation Center, Center of Research and Innovation, Abu Dhabi Department of Health, Abu Dhabi, UAE
08:30 AM - 08:50 AM
Holistic and innovative approaches to psychiatric care in rare diseases
Dr. Hamid Alhaj
Consultant Psychiatrist, University Hospital Sharjah and Chair, Department of Family and Community Medicine and Behavioral Sciences, College of Medicine, University of Sharjah Sharjah, UAE
08:50 AM - 09:10 AM
The psychosocial impact of rare diseases among children and adolescents: the role of teachers and parents for psychosocial and educational support
Prof. Ghanem Al Bustami
Professor, Development and Educational Psychology, Department of Education, College of Arts and Sciences, Abu Dhabi University, Abu Dhabi, UAE
09:10 AM - 09:30 AM
Psychiatric support for children with rare diseases: addressing developmental and emotional needs
Dr. Muhammad Tahir
Consultant Psychiatrist and Neurologist and Director, American Wellness Center, Dubai, UAE
Scientific Concurrent Session: Al Thuraya B
Rare Malignancies
Chairperson: Dr. Hassan Jaafar
Consultant Medical Oncology, Burjeel Medical City, Abu Dhabi, UAE
09:30 AM - 09:50 AM
Treatment approaches and implementation for mismatch repair cancer syndrome
Dr. Hassan Jaafar
Consultant Medical Oncology, Burjeel Medical City, Abu Dhabi, UAE
09:50 AM - 10:10 AM
Cardiac tumors
Dr. Anas Abu Hazeem
Consultant Pediatric Cardiology, NMC Royal Hospital and Reem Hospital, Abu Dhabi and Al Jalila Children’s Hospital, Dubai, UAE
10:10 AM - 10:30 AM
Rare malignancies in children
Dr. Mustafa Al Baroudi
Consultant Pediatric Hematology and Oncology, NMC Royal Hospital, Abu Dhabi, UAE
Community Support Session: Al Thuraya A
Patient Advocacy for Rare Diseases
Chairperson: Mrs. Hanaa El-Sadat
Chairwoman of Yasmin Elsamra Foundation, DEBRA Egypt, and Member of the Executive Board Committee of DEBRA International, Cairo, Egypt
09:30 AM - 09:50 AM
Yasmin Elsamra Foundation: transforming lives through compassion
Mrs. Hanaa El-Sadat
Chairwoman of Yasmin Elsamra Foundation, DEBRA Egypt, and Member of the Executive Board Committee of DEBRA International, Cairo, Egypt
09:50 AM - 10:10 AM
MENA organization for rare diseases: Patients in the center of care
Dr. Khedidja Hedna
Patient advocacy lead, MENA Organization for rare diseases, Dubai, UAE
10:10 AM - 10:30 AM
Galactosialidosis, a metabolic disease, and the road to therapy through international collaboration
Mr. Cagdas Canbolat
Patient Advocate at Galactosialidosis Network and Board Member of International Society of Mannosidosis & Related Diseases, (ISMRD), London, UK
10:30 AM - 11:00 AM — Coffee Break
Scientific Main Track: Al Thuraya A&B
Keynote Presentations on Rare Diseases
Chairperson: Dr. Joanne Sadier
Senior Consultant, Department of Public Health, Dubai Health Authority, Dubai, UAE
11:00 AM - 11:20 AM
Clinical and genomic approaches for unsolved and undiagnosed rare diseases
Prof. Uğur Özbek
Chair, RAREBOOST Project; Director, Rare and Undiagnosed Disease Platform; and Orphanet Country Coordinator, Izmir BioMedicine and Genome Center, Izmir, Turkey
11:20 AM - 11:40 AM
Diagnostic clues of rare genetic disorders promote target gene sequencing
Prof. Maha Zaki
Professor, Clinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt
11:40 AM - 12:00 PM
The faces of genetics in the mirror of consanguinity
Prof. Zuhair Al-Hassnan
Consultant, Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
12:00 PM - 12:20 PM
Genomics: unlocking the mechanism of rare diseases
Dr. Cristina Skrypnyk
Consultant Medical Genetics and Genomics, Al Jawhara Center for Molecular Medicine, Genetics & Inherited Disorders, Manama, Kingdom of Bahrain
12:20 PM - 12:40 PM
The intersection of clinical practice and research: towards patient-centered care
Prof. Tawfeg Ben-Omran
Division Chief & Senior Consultant, Medical Genetic Department, Hamad Medical Corporation & Sidra Medicine, Doha, Qatar
12:40 PM - 01:00 PM
The use of metagenomics in assessing the epigenetic impacts on rare diseases
Prof. Mahir Al-Hilali
Consultant Hematology and Laboratory Medicine, Medical Director of Mediclinic Precise, and Director of Laboratory Services, Mediclinic Middle East, Dubai, UAE
01:00 PM - 02:00 PM — Lunch Break
Scientific Main Track: Al Thuraya A&B
Newborn Screening and Rare Diseases
Chairperson: Prof. Osama Aldirbashi
Senior Consultant Clinical Scientist, Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar
02:00 PM - 02:20 PM
Newborn screening: pitfalls and challenges
Dr. Pascale Karam
Associate Professor and Head of Inborn Errors of Metabolism Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
02:20 PM - 02:40 PM
A decade of newborn screening in Kuwait: lessons learned and future directions
Dr. Hind Alsharhan
Assistant Professor, Medical and Biochemical Geneticist, Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait
02:40 PM - 03:00 PM
Newborn screening in Bahrain: current status and efforts for best neonatal health
Dr. Zahra Alsahlawi
Consultant Pediatric Inborn Errors of Metabolism and Clinical Genetics and Deputy Chief of Medical Staff, Salmaniya Medical Complex, Ministry of Health, Manama, Bahrain
Scientific Main Track: Al Thuraya A&B
Best Practices for Management of Rare Diseases
Chairperson: Prof. Asma Deeb
Division Chair and Consultant, Pediatric Endocrinology, Sheikh Shakhbout Medical City, Abu Dhabi, UAE
03:00 PM - 03:20 PM
Best practice in management of rare forms of diabetes
Prof. Asma Deeb
Division Chair and Consultant, Pediatric Endocrinology, Sheikh Shakhbout Medical City, Abu Dhabi, UAE
03:20 PM - 03:40 PM
Identifying unique rare disease patients in Saudi Arabia, the ENPP1 story and a phase III trial
Dr. Afaf Alsagheir
Head of Pediatric Endocrinology/Diabetes, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
03:40 PM - 04:00 PM
Management of orthopedic conditions in patients with rare diseases
Dr. Zaid Al Aubaidi
Unit Head & Consultant, Orthopedics & Pediatric Spine Surgery, Al Zahra hospital, Dubai, UAE
04:00 PM - 04:30 PM — Coffee Break
Scientific Concurrent Session: Al Thuraya B
Rare Immune Diseases
Chairperson: Prof. Mohamed Abuzakouk
Department Chair and Consultant, Allergy and Clinical Immunology, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
04:30 PM - 04:50 PM
Combined immunodeficiency disorders
Dr. Hiba Shendi
Allergy & Immunology Consultant, Sheikh Khalifa Medical City, Assistant Professor, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE
04:50 PM - 05:10 PM
Hereditary angioedema: diagnosis and novel treatment
Dr. Hamad Alhameli
Consultant Allergy and Immunology, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
05:10 PM - 05:30 PM
Immune check point deficiencies and autoimmune lymphoprelifrative syndromes (ALPS)
Dr. Mohamed Ebrahim
Consultant Allergy and Immunology, Danat Al Emarat Hospital, Abu Dhabi, UAE
Community Support Session: Al Thuraya A
Media Awareness and Rare Diseases
04:30 PM - 05:30 PM
Panel discussion
Dr. Abeer Al Naqbi
Consultant Family Medicine, Bateen Health Care Center, SEHA, Abu Dhabi, UAE
Dr. Bassam Darwish
Founder and CEO, Balsam Healthcare Development, Dubai, UAE
Ms. Ramola Talwar Badam
Communities Editor, The National, Abu Dhabi, UAE
Scientific Concurrent Session: Al Thuraya C
The knowns and the unknowns in rare diseases
Chairperson: Dr. Anwar Baban
Consultant Clinical Genetics and Genomics, Rare Diseases and Medical Genetics Units, Bambino Gesu Children's Hospital & Research Institute, Rome, Italy
04:30 PM - 04:40 PM
Introduction
Dr. Anwar Baban
Consultant Clinical Genetics and Genomics, Rare Diseases and Medical Genetics Units, Bambino Gesu Children's Hospital & Research Institute, Rome, Italy
04:40 PM - 04:50 PM
Anorexia Nervosa and Body Image
Prof. Haleama Al Sabbah
Professor, Department of Public Health, College of Health Sciences, Abu Dhabi University, Abu Dhabi, UAE
04:50 PM - 05:00 PM
Rare X-linked disease: Lesch-Nyhan syndrome
Ms. Dana Hammad
Biotechnologist, Sciences College, Sharjah University, Sharjah, UAE
05:00 PM - 05:10 PM
Rare case of NONO-associated X-linked intellectual disability syndrome
Dr. Kuldeep Dhariwal
Consultant Pediatrics, NMC Specialty Hospital, Al Nahda, Dubai, UAE
05:10 PM - 05:20 PM
Case of limbic encephalitis
Dr. Himanshu Soni
Consultant Neurologist and Epileptologist, Cleveland Clinic Abu Dhabi, UAE
05:20 PM - 05:30 PM
Case study: Tyrosinemia type 1 or Maleylacetoacetate Isomerase deficiency? Insights from Quebec’s founder effect
Dr. Farah ElTurk
Clinical Biochemical Geneticist and Scientific Director of the Medical Biochemical Genetics Laboratory, Sainte-Justine University Health Centre, Montreal, Canada
05:30 PM - 05:40 PM
Rare to uncommon - mutations and phenotype in osteogenesis imperfecta: a short case series
Dr. Sreelata Nair
Consultant Geneticist and Lab Director, Lifeline Multi Specialty Hospital, Kerala, India
برنامج تدریبي: قاعة الثريا ج
المدرسة الحسية وبرتوكول بوب لتأهيل الحواس (الیوم الثاني)
رئيس الجلسة: أ.د بهاء الدين جلال
مدير مركز هيلب للشرق الاوسط وشمال افريقيا, مدينة الكويت, الكويت
05:30 PM - 09:30 PM
برتوكول بوب لتأهيل الحواس لأصحاب الهمم
أ.د بهاء الدين جلال
مدير مركز هيلب للشرق الاوسط وشمال افريقيا, مدينة الكويت, الكويت