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