Time Topic Speaker

Session I

Genomic Newborn Screening - “Challenges and Successes”

Moderators: Dr. Rehab Ali, Dr. Mamatha Ramaswamy


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


Genomic newborn screening: technical and ethical considerations

Prof. Christian Schaaf
Director and Chair, Institute of Human Genetics University of Heidelberg


Newborn screening changing the natural history of rare disease

Prof. Georg Hoffmann
Chairman, Center for Child and Adolescent Medicine University of Heidelberg


The outcomes of new born screening: experience from Qatar

Dr. Noora Shahbeck
Acting Chair of the medical genetics, Hamad Medical Corporation, Qatar


Coffee Break


Session II

Reproductive Options and Rare Diseases

Moderators: Dr. Hasan Burjaq, Dr. Sawsan Alobaidly


Prenatal genetic diagnosis: experience from Qatar

Dr. Fatima Al Musafri
Clinical and Prenatal Genetic. Department of Pediatrics. Hamad Medical Corporation


Long term outcomes of assisted reproductive technology

Prof. Ariane Germeyer
Leading Attending, Department of Gynecological Endocrinology, University of Heidelberg 


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


Prenatal surgery of myelomeningocele 

PD Dr. Heidi Bächli
Head of Pediatric Neurosurgery, Department of Neurosurgery, University Hospital Heidelberg


Prayer & Lunch


Session III

Genomic Medicine 2020 & Human Genomics without Borders

Moderators: Dr. Donald Love, Dr. Susana Akiki, Dr. Wadha Almuftah


Qatar Bio Bank/Qatar Genome Project vision for precision medicine: Q chip as an example

Dr. Said Ismail
Director, Qatar Genome Program, Qatar Foundation


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


Updates on NSG technology: experience from Qatar

Dr. Zafar Nawaz PhD, FACMG, DABMG
Hamad Medical Corporation. Qatar


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.


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


Qatar experience with DNA methylation testing

Dr. Adham Ammar
Senior Consultant Laboratory


Rare diseases in hepatology: challenging cases from Qatar

Dr. Moataz Derbala
Sr. Consultant, Gastroenterology & Hepatology Hamad Medical Corporation


Rare diseases in gastroenterology: experience from Qatar

Dr. Bernice Lo
Principal Investigator
Precision Medicine Research branch
Sidra Medicine


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


Coffee Break


Session V


Moderators: Dr. Awad Alqahtani, Dr. Mohd AlHijji, Dr Safaa Al Khuzaei


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


Genetic cardiomyopathies - not as rare as thought

Prof. Benjamin Meder
Deputy Medical Director, Department of Cardiology, Angiology, and Pneumology, University of Heidelberg


Rare endocrine syndromes in Qatar

Dr. Amal Sabt
Department of Endocrinology
Sidra Medicine


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


Rare inherited dermatological diseases in Qatar

Dr. Fatma Al Ansari
Consultant, Department of Dermatology


Closing Remarks

Dr. Reem Al Sulaiman