8:00 - 8:30

Onsite registration - LAU Beirut campus, Irwin Hall Auditorium

8:30 - 9:00 

Welcome and Opening Remarks

Sola Aoun Bahous, MD, PhD - Dean, LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB

Neuromuscular Challenge Foundation:
Mrs. Claire Abi Karam, Mr. Louis Zeeni & Mrs. Fadia Safi - SESOBEL, LB

The Landscape of Rare Diseases in Lebanon:
LAU Genetics Team

Session 1: LAU at the Forefront of Genetics for the Lebanese Community 

9:00 - 9:20

Lecture 1: Silent Partners: The Genetics of Rare Disease Carriers 
Presented by
Eliane Choueiry, PhD - LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB

9:20 - 9:40

Lecture 2: Enhancing Knowledge in the Field of Genetic Diseases: Gene Discovery 
Presented by
Cybel Mehawej, PhD - LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB

9:40 - 10:00

Lecture 3: A New Lens on Genetics: Visualizing Disease Patterns in Lebanon 
Presented by
Eileen Marie Hanna, PhD - LAU School of Arts and Sciences, LB

10:00 - 10:20

Lecture 4: Therapeutic Options for the Rare Diseases
Presented by
Arnold Munnich, MD, PhD - Necker-Enfants Malades Hospital, Paris, France

10:20 - 10:30

Q&A

10:30 - 10:45

Coffee Break

Session 2: Recent Advances in Genetic Diseases 

10:45 - 11:05

Lecture 5: Genetic Landscape of Charcot-Marie-Tooth Disease in Lebanon 
Presented by
Valerie Delague, PhD - Aix-Marseille University, France 

11:05 - 11:25

Lecture 6: Neuromuscular Disorders in the MENA Region: Past, Present, and Future
Presented by
Andoni Urtizberea, MD, MSc - Institut de Myologie, Paris, France  

11:25 - 11:45

Lecture 7: Epilepsy in Pediatrics and Rare Diseases
Presented by
Isabelle Desguerre, MD, PhD - Necker-Enfants Malades Hospital, Paris, France

11:45 - 12:05

Lecture 8: Inherited Retinal Disease Genetics: From Gene Discovery to Gene Therapy  
Presented by
Said El Shamieh, PhD - Beirut Arab University, LB

12:05 - 12:25

Lecture 9: Lessons for Aging from Progeroid Syndromes’ Epigenetics 
Presented by
Nady El Hajj, PhD - Hamad Bin Khalifa University, Doha, Qatar 

12:25 - 12:30

Q&A

12:30 - 13:00

 Registries/ “Association des Malades”
 Mrs. Ola Joumblat: IFightPID
 Salim Adib, MD, DrPH - AUB Faculty of Health Sciences: Registries for Rare Diseases

13:00 - 14:00 

Lunch

14:00 - 14:30 

Non-CME Satellite Symposium: Metabolic Diseases
Presented by
Hicham Mansour, MD - Saint George Hospital University Medical Center, LB

14:30 - 14:50

Lecture 10: Updates in Spinal Muscular Atrophy 
Presented by
Isabelle Desguerre, MD, PhD - Necker-Enfants Malades Hospital, Paris, France

14:50 - 15:10

Lecture 11: Rare, Overlooked, and Misdiagnosed: The High Stakes of Getting it Right

Presented by
Annoir Shayya, MD - LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB

15:10 - 15:20

Q&A

15:20 - 16:20

Round Table: Patients’ Journeys

• Rare Disease, Did Something Change? Challenges of Researchers: Andoni Urtizberea, MD, MSc - Institut de Myologie, Paris, France

• Challenges of Parents and Siblings: Melanie Wardane - Head of Psychology Department at SESOBEL

• Challenges of Doctors: Abeer Hani, MD - LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB

• Challenges of Pharmaceutical Companies: Lara Haidar, PharmD

• Clinical Trials: Georges Labaki, PharmD

16:20

Closing Remarks:
Andre Megarbane, MD, PhD - Chair Department of Human Genetics, LAU Gilbert and Rose-Marie Chagoury School of Medicine, LB
Andoni Urtizberea, MD, MSc - Institut de Myologie, Paris, France