Speakers and Abstracts
18:05 - 18:30 Overview of SMA Disease
Abeer Hani, MD - Lebanese American University
Dr. Abeer Hani is Clinical Assistant Professor of Pediatrics and Neurology at the LAU Gilbert and Rose-Marie Chagoury School of Medicine and LAU Medical Center-Rizk Hospital, with expertise in pediatric neurology, epilepsy, and intraoperative monitoring.
She completed her MD degree at the American University of Beirut in Lebanon in 2008, then pursued a three-year residency training in Pediatrics at AUB between 2008 and 2011. At Duke University in Durham, North Carolina, USA, she completed a three-year fellowship in Child Neurology from 2011 to 2014, followed by a one-year fellowship in Clinical Neurophysiology, Epilepsy and Intraoperative Monitoring in 2014-2015. Dr. Hani is an active member of multiple local and international scientific committees. She is also an active researcher and has authored many publications and book chapters. Her current areas of research include epilepsy and developmental delays. She is also heavily involved in academic teaching and is the Pediatrics Residency Program Director at LAU Medical Center-Rizk Hospital. Dr. Hani serves as a consultant in Pediatric Neurology to multiple local hospitals. She has expertise in various neurologic disease of childhood, epilepsy, and intraoperative monitoring.
Abstract
An overview of spinal muscular atrophy (SMA) will be presented and awareness of the early signs and symptoms of SMA will be raised. And, an overview will be provided showing the latest developments in the treatment and management of SMA.
18:30 - 18:50 Genetics of SMA Disease
Andre Megarbane, MD, PhD - Lebanese American University
Dr. Megarbane is Professor & Chairman of the Department of Human Genetics and Assistant Dean for Research with joint appointment as Professor in the Department of Pediatrics at the LAU Gilbert and Rose-Marie Chagoury School of Medicine and LAU Medical Center-Rizk Hospital, with expertise in medical genetics and neuromuscular disorders.
He completed his MD degree at the Saint Joseph University in Lebanon in 1990. Upon graduation from medical school, Dr. Megarbane moved to France where he completed, in parallel, two 1-year certificates in Cytogenetics and in Embryology, followed by a third 1-year certificate in Human Genetics. In 1992, Dr. Megarbane obtained his first Diploma in Somatic and Molecular Genetics from The Pasteur Institute in Paris. He subsequently earned, in June 1994, his specialization diploma as a Genetic Diseases specialist. Dr. Megarbane’s passion for science translated into his earning of a PhD degree in Science in 1997 from Paris Descartes University (Paris V), after which he completed three years of post-doctoral training in Genetics at the HDR (Habilitation à Diriger des Recherches) also at Paris V in France. Dr. Megarbane incarnated his tenure at the Saint Joseph University by founding, in 1998, a molecular biology section and accordingly the “Medical Genetics Unit” that quickly became a national reference center; he continued heading this new unit until 2015 when he moved to Bahrain to become the Medical Director of Al Jawhara Center in Manama. In November 2020, Dr. Megarbane joined the LAU Gilbert and Rose-Marie Chagoury School of Medicine.
Dr. Megarbane has authored and co-authored more than 350 peer-reviewed publications, in addition to 3 Books. He was the recipient of more than five scientific awards of which, in 2013, “Best Scientist for the French speaking region”; he is a member of prominent international genetic societies such as the European Society of Human Genetics and the American Society of Human Genetics.
Abstract
Spinal muscular atrophy is an autosomal recessive lower alpha motor neuron disease globally estimated to affect ~1 in 4,000 to 20,000. The most common form of SMA (types 1-4) is caused by a mutation in the SMN1 gene on chromosome 5. Although the type 1 and 2 can clinically and easily be suspected, as a diagnostic tool, a genetic test is needed to confirm the diagnosis and determine number of copies of the SMN2 gene. This will predict the course of SMA that is likely to result.