|
Time |
Topic |
Speaker |
|
Session I
|
Genomic Newborn Screening - “Challenges and Successes”
|
Moderators: Dr. Rehab Ali, Dr. Mamatha Ramaswamy
|
|
09:00-09:15
|
Historical and future aspects of new born screening
|
Dr. Ghassan Mustafa Abdoh
Sr. Consultant Pediatrics - Neonatology Head of Newborn Screening Unit - NICU-WWRC, Hamad Medical Corporation
|
|
09:15-09:30
|
Genomic newborn screening: technical and ethical considerations
|
Prof. Christian Schaaf
Director and Chair, Institute of Human Genetics University of Heidelberg
|
|
09:30-09:45
|
Newborn screening changing the natural history of rare disease
|
Prof. Georg Hoffmann
Chairman, Center for Child and Adolescent Medicine University of Heidelberg
|
|
09:45-10:00
|
The outcomes of new born screening: experience from Qatar
|
Dr. Noora Shahbeck
Acting Chair of the medical genetics, Hamad Medical Corporation, Qatar
|
|
10:00-10:30
|
Coffee Break
|
|
|
Session II
|
Reproductive Options and Rare Diseases
|
Moderators: Dr. Hasan Burjaq, Dr. Sawsan Alobaidly
|
|
10:30-10:45
|
Prenatal genetic diagnosis: experience from Qatar
|
Dr. Fatima Al Musafri
Clinical and Prenatal Genetic. Department of Pediatrics. Hamad Medical Corporation
|
|
10:45-11:00
|
Long term outcomes of assisted reproductive technology
|
Prof. Ariane Germeyer
Leading Attending, Department of Gynecological Endocrinology, University of Heidelberg
|
|
11:00-11:15
|
The Preimplantation Genetic Testing (PGT) program at the assisted conception unit in Qatar
|
Dr.. Moza Albader
Sr Consultant and clinical scientist-IVF Lab director, Assisted conception unit Hamad Medical Corporation, Qatar
|
|
11:15-11:30
|
Prenatal surgery of myelomeningocele
|
PD Dr. Heidi Bächli
Head of Pediatric Neurosurgery, Department of Neurosurgery, University Hospital Heidelberg
|
|
11:30-13:00
|
Prayer & Lunch
|
|
|
Session III
|
Genomic Medicine 2020 & Human Genomics without Borders
|
Moderators: Dr. Donald Love, Dr. Susana Akiki, Dr. Wadha Almuftah
|
|
13:00-13:15
|
Qatar Bio Bank/Qatar Genome Project vision for precision medicine: Q chip as an example
|
Dr. Said Ismail
Director, Qatar Genome Program, Qatar Foundation
|
|
13:15-13:30
|
Applying whole genome sequencing to diagnose rare monogenic diseases: experience from Qatar
|
Dr. Khalid Fakhro, PhD
Director, Precision Medicine Program, Laboratory of Genomic Medicine, Sidra Medicine
|
|
13:30-13:45
|
Updates on NSG technology: experience from Qatar
|
Dr. Zafar Nawaz PhD, FACMG, DABMG
Hamad Medical Corporation. Qatar
|
|
13:45-14:00
|
Whole genome sequencing in rare malignancies: the MASTER Program of the German Cancer Consortium
|
Prof. Stefan Fröhling
Acting Managing Director, National Center for Tumor Diseases, Division of Translational Medical Oncology, German Cancer Research Center/NCT.
|
|
14:00-14:15
|
Molecular diagnostic testing challenges for solid tumors with rare somatic variants
|
Dr. Wafa Abualainin
Clinical Scientist. Diagnostic Genome Division, QRI, Hamad Medical Corporation
|
|
Session IV
|
Rare Diseases in Adults
|
Moderators: Dr. Khalid Al Ejji, Dr. Hissa Abdulla
|
|
14:15-14:30
|
Qatar experience with DNA methylation testing
|
Dr. Adham Ammar
Senior Consultant Laboratory
|
|
14:30-14:45
|
Rare diseases in hepatology: challenging cases from Qatar
|
Dr. Moataz Derbala
Sr. Consultant, Gastroenterology & Hepatology Hamad Medical Corporation
|
|
14:45-15:00
|
Rare diseases in gastroenterology: experience from Qatar
|
Dr. Bernice Lo
Principal Investigator
Precision Medicine Research branch
Sidra Medicine |
|
15:00-15:15
|
Griscelli Syndrome type 2 (GS2) in adult: experience from Qatar
|
Dr. Maryam Alnesf
Clinical Assistant Professor, Qatar University College of Medicine & Associate Interim Clerkship Director for Qatar University - College of Medicine
|
|
15:15-15:45
|
Coffee Break
|
|
|
Session V
|
|
Moderators: Dr. Awad Alqahtani, Dr. Mohd AlHijji, Dr Safaa Al Khuzaei
|
|
15:45-16:00
|
The Genetics of Heart and Vascular Disease & the Qatari Experience
|
Dr. Jassim Al Suwaidi MB, ChB, FACC.
Sr Consultant Cardiologist, Hamad Medical Corporation, Professor of Clinical Medicine, Weill Cornell Medical School, Qatar
|
|
16:00-16:15
|
Genetic cardiomyopathies - not as rare as thought
|
Prof. Benjamin Meder
Deputy Medical Director, Department of Cardiology, Angiology, and Pneumology, University of Heidelberg
|
|
16:15-16:30
|
Rare endocrine syndromes in Qatar
|
Dr. Amal Sabt
Department of Endocrinology
Sidra Medicine
|
|
16:30-16:45
|
Balo’s concentric sclerosis: a diagnostic enigma and therapeutic challenges
|
Dr. Dirk Theophiel
Sr. Consultant Neurologist, Director of MS program. Professor Clinical Neurology & Neurosciences at Weill Cornell Medical College - Qatar
|
|
16:45-17:00
|
Rare inherited dermatological diseases in Qatar
|
Dr. Fatma Al Ansari
Consultant, Department of Dermatology
|
|
17:00
|
Closing Remarks
|
Dr. Reem Al Sulaiman
|
