The Year in Review
Moderators: Rosalia Silvestri (Italy) & Elias G. Karroum (USA)
Structure:
Presentation – 12 Minutes
Discussion & Questions – 3 Minutes
Pediatric and Adult LMM (And Clinical Implications Including RSD)
Pathophysiology of RLS
Omics Science in RLS
Genetics of RLS
Pediatric and Adult LMM (And Clinical Implications Including RSD)
“Pediatric LMM and RSD”
Learning Objectives:
Understand the historical development of scoring large muscle movements (LMM) in pediatric sleep studies.
Identify scoring criteria for LMM and discuss their applicability in clinical practice.
Gulcin Benbir Senel (Turkey)
Gulcin Benbir Senel, MD, is Professor of Neurology at Istanbul University-Cerrahpasa. Her research is concentrated in the field of sleep medicine, with particular expertise in restless legs syndrome (RLS), REM sleep behavior disorder, and narcolepsy.
Professor Benbir Senel earned her medical degree from Marmara University English Faculty of Medicine in Istanbul, Turkey, in 2002. She completed her postdoctoral training and residency in Neurology at Istanbul University, Cerrahpasa Faculty of Medicine, Department of Neurology in 2008. She advanced to the rank of Professor of Neurology at Istanbul University-Cerrahpasa in August 2022.
Professor Benbir Senel has a broad background in Neurology, with specific training and expertise in Sleep Medicine. She has served as principal investigator (PI) or co-investigator on numerous university- and TUBITAK-funded grants, where she has been responsible for developing effective measures of sleep quality and sleep disorders relevant to patients with neurological disorders. Her work has also involved establishing strong ties with community providers to facilitate the recruitment and long-term tracking of research participants. She has demonstrated her ability to administer research projects effectively, including staffing, research protections, and budget management, and has a strong record of peer-reviewed publications.
Professor Benbir Senel’s early publications addressed neurological diseases in addition to sleep disorders in adults. Her clinical work and research studies focus on sleep medicine, and her publications document emerging concerns regarding the consequences of sleep-related disorders. She has also worked to guide primary care providers in recognizing symptoms, assessing sleep and its disorders, and applying appropriate interventions. She is the author of many Turkish book chapters and edited the main textbook of “Sleep” in Turkish literature.
Professor Benbir Senel’s research has also contributed to the understanding of restless sleep disorder, a newly defined disorder, in both children and adults. Her work has explored its association with other sleep disorders and medical conditions.
Professor Benbir Senel is a board member of the International Restless Legs Syndrome Study Group. She is also actively involved in several other professional organizations, including serving as Editor of the Journal of Turkish Sleep Medicine, Executive Member of the Turkish Sleep Medicine Society, Founder President of the Turkish Narcolepsy Network, Member of the International REM Sleep Behavior Disorder Study Group, and Teaching Committee member of the European Narcolepsy Network.
“Adult LMM: Insights into Clinical Implications”
Learning Objective:
Understand the current knowledge about presence of LMM in adult populations and their potential clinical implications, and will be able to investigate the presence of restless sleep disorder in adults.
Ambra Stefani (Austria)
Ambra Stefani is senior neurologist and neuroscientist working at the Medical University Innsbruck, Austria. Her main research interests are restless legs syndrome (clinical, laboratory, and imaging-based characterization, and pathogenetic mechanisms), isolated RBD (clinical, video-polysomnographic and biomarker characterization), and the link between sleep and neurodegeneration. I have a broad background in neurology and sleep neurophysiology, with specific training expertise in sleep medicine and 12-year research experience in sleep science.
Pathophysiology of RLS
“Shared Neuronal mechanisms of RLS and Restlessness of Opioid Withdrawal”
Learning Objective:
Understand the connection between RLS and opioid withdrawal syndrome and their therapeutic implications.
Sergi Ferre (USA)
Dr Ferré is a principal investigator at the National Institute on Drug Abuse, IRP, NIH, DHHS. He is also a guest professor from the Department of Biochemistry and Molecular Biology at the Faculty of Biology, University of Barcelona, and adjunct associate professor from the Department of Pharmacology and Experimental Therapeutics at the University of Maryland School of Medicine. He is principal editor of The Scientific World Journal and regional editor of Recent Patent Reviews on CNS Drug Discovery.
His general research interest is the understanding of the functional and pharmacological roles of neurotransmitter receptor heteromers. Finding the unique biochemical characteristics of receptor heteromers constitutes the main focus of his research, which can then be used to determine their existence in native tissues and their potential use as targets for drug development, particularly in neuropsychiatric disorders and drug addiction.
Omics Science in RLS
“Omics Insights and Future Direction in RLS”
Learning Objective:
Evaluate the application of omics technologies in elucidating the genetic and molecular mechanisms underlying RLS, and discuss how these insights can inform personalized treatment strategies.
Maria Paola Mogavero (Italy)
Dr. Maria Paola Mogavero is a board-certified Neurologist and Sleep Medicine specialist with a robust background in clinical care and sleep research. She currently serves as a Neurology Researcher at the Sleep Medicine Centre of the “Vita-Salute” San Raffaele University, IRCCS San Raffaele Hospital in Milan, Italy, where she is also pursuing her PhD. Dr. Mogavero earned a Level II Master’s Degree in Sleep Medicine from the Alma Mater Studiorum – University of Bologna.
She holds several academic teaching roles, including the Level II Master in Sleep Medicine at the University of Bologna, the Level II Master in Clinical Sleep Medicine at the University of Foggia, and the Catania High School – University of Catania. She also serves on the Didactic Committee of the Annual Residential Course in Sleep Medicine of the Italian Academy of Sleep Medicine, the most established Italian training program in the field.
Within the International Restless Legs Syndrome Study Group (IRLSSG), Dr. Mogavero co-chairs, alongside Dr. Elias Karroum, a dedicated task force focused on adult RLS phenotyping. She is also an active member of the IRLSSG Website Task Force.
Dr. Mogavero has authored over 85 peer-reviewed publications and contributed to various book chapters. She is a frequent speaker at national and international conferences, including the World Sleep Congress, APSS, ESRS and Italian Academy of Sleep Medicine (AIMS) congresses, where she has presented on topics such as sleep related movement disorders. Her primary research interests focus on Neurology and Sleep Disorders, with a special emphasis on sleep-related movement disorders in both pediatric and adult populations. Her significant contributions to sleep research have been recognized with multiple prestigious awards, including the Wayne Hening Young Investigator Award from the International Restless Legs Syndrome Study Group (2022 and 2023) and the New Investigator Award from the World Sleep Society (2023).
“Proteomic Updates and Metabolomic Insights in RLS and PLMs”
Learning Objectives:
Identify candidate proteomic biomarkers of RLS and PLMs
Recognize the potential metabolomics in RLS and PLMs
Katie Cederberg (USA)
Dr. Cederberg is a dedicated researcher with a long-term goal of understanding the underlying mechanism of RLS and advancing independent studies on exercise as a non-pharmacological treatment option. Having personally experienced RLS since childhood, she began her journey of self-management through exercise in 2007, which ignited her passion for exploring non-pharmacological approaches to alleviate RLS symptoms.
Her graduate research focused on the effects of acute exercise at varying intensities on RLS severity and examined the relationship between physical activity and RLS in individuals with neurological disorders, particularly multiple sclerosis. This work earned her an NIH fellowship award, highlighting her commitment to understanding and addressing RLS.
Currently, Dr. Cederberg is a postdoctoral researcher in Sleep Medicine at Stanford University, where she employs a proteomic approach to identify blood-based biomarkers and investigate the shared mechanisms underlying periodic limb movements and RLS. Her innovative research has garnered several prestigious accolades, including the New Investigator Award from the World Sleep Society, the Wayne Hening Young Investigator Award from the International RLS Study Group, and an honorable mention for the Trainee Investigator Award from the American Academy of Sleep Medicine. Additionally, she has secured funding from the NIH and the American Academy of Sleep Medicine Foundation to further this research.
More recently, Dr. Cederberg is applying her expertise to study the proteomic response to exercise in RLS, aiming to uncover the underlying mechanisms that explain how and why exercise influences RLS symptoms. Her unique combination of personal experience and professional expertise positions her as a leading voice in the exploration of exercise as a viable treatment option for RLS and related sleep disorders.
Genetics of RLS
“RLS Genetics – Insights and Inspirations from a Large GWAS Meta-Analysis”
Learning Objective:
Understand the genetic architecture, biological mechanisms, and risk prediction models for Restless Legs Syndrome, providing the basics for further exploring potential translation in diagnosis, treatment, and prevention of the disease.
Barbara Schormair (Germany)
Barbara Schormair studied molecular biology and focused on human genetics during her PhD thesis. She is deputy director of the Institute of Neurogenomics (ING) at the Helmholtz Zentrum München. Her main research interest is the application of genomic technologies to understand the genetic basis of Restless Legs Syndrome, one of the most common neurological disorders. The ING is dedicated towards deciphering the underlying genetic basis of movement disorders and turning this knowledge into improved patient care by combining classical wet lab work, high-throughput omics technologies, and computational approaches.
“Genomic Insights into RLS in Diverse Genetic Ancestries: Multi-Ancestry GWAS Across Latin American, African, and Mixed Ancestries”
Learning Objectives:
Identify how genetic risk factors in RLS can differ across African, American, and European ancestries and understand the importance of studying ancestry-specific genetic risk factors.
Explore the association of MEIS1 locus with disease risk in diverse ancestry populations.
Evaluate the advantages and limitations of using biobank-based cohorts to study genetic diversity.
Fulya Akcimen (USA)
Fulya is a postdoctoral fellow at the Laboratory of Neurogenetics, National Institute on Aging. She earned her undergraduate degree in Molecular Biology and Genetics from Izmir Institute of Technology and completed her master’s in the same field at Bogazici University. She received her Ph.D. in Human Genetics from McGill University, working in the neurogenetics laboratory under the supervision of Dr. Guy Rouleau. Her current research focuses on the genetics of dementia, Parkinson’s disease, and related movement disorders.
Recepient of Wayne Hening Young Investigator Awards in 2020 and 2024