Examining the Global Genetic Prevalence of TK2d

No Label: Michael Levy, MD, PhD No Label: Peter V. Sguigna, MD What do the latest METEOROID trial results mean for neurologists treating myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD)? Michael Levy, MD, Massachusetts General Hospital, Boston, MA, discusses relapse prevention, diagnostic challenges, and the future of MOGAD management with Peter Sguigna, MD, UT Southwestern Medical Center, Dallas, TX.

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Zarazuela Zolkipli-Cunningham, MBChB, MRCP Guest: Oscar H. (Hank) Mayer, MD Thymidine kinase 2 deficiency (TK2d) is a rare mitochondrial myopathy that can involve multiple organ systems, requiring care from different specialties. Given that need for multidisciplinary coordination, Dr. Charles Turck speaks with Drs. Hank Mayer and Zuela Zolkipli-Cunningham to learn how we can improve communication and collaboration across the care team throughout the diagnostic and management journey. Coming to us from the Children's Hospital of Philadelphia, Dr. Mayer is the Director of the Pulmonary Function Laboratory, and Dr. Zolkipli-Cunningham is the Director of Clinical Research in the Mitochondrial Medicine Frontier Program.

Guest: Jaime Imitola, MD As stem cell therapies continue to generate significant interest among patients with multiple sclerosis (MS), clinicians must be prepared to distinguish between approved treatments, investigational approaches, and unproven interventions marketed through stem cell tourism. Hear more as Dr. Jaime Imitola discusses the current landscape of stem cell therapies in MS, the risks associated with unregulated treatments, and the importance of patient education and evidence-based guidance. Dr. Imitola is the Vice Chair for Research of the Department of Neurology and the Director of the Division of Multiple Sclerosis and Translational Neuroimmunology at UConn Health. He also spoke about this topic at the 2026 Consortium of Multiple Sclerosis Centers Annual Meeting.

Guest: Elizabeth S. Gromisch, PhD Cognitive changes are a common but complex aspect of multiple sclerosis care, making practical and accessible screening strategies essential. In this program, Dr. Elizabeth Gromisch explores both traditional and digital cognitive screening tools for MS and shares real-world insights on selecting and implementing assessments across a range of clinical settings. Dr. Gromisch is a research neuropsychologist at the Joyce D. and Andrew J. Mandell Center for Comprehensive Multiple Sclerosis Care and Neuroscience Research at Mount Sinai Rehabilitation Hospital, Trinity Health of New England. She also discussed this topic at the 2026 Consortium of Multiple Sclerosis Centers Annual Meeting.

Host: Alexandria May, PharmD, BCPS Guest: Kaitlin Batley, MD Fatigue and muscle weakness may seem routine, but when do they signal an underlying condition like thymidine kinase 2 deficiency (TK2d)? To find out, Dr. Alexandria May speaks with Dr. Kaitlin Batley, Director of the Pediatric Neuromuscular Program at Children’s Health and an Assistant Professor of Pediatrics and Neurology at UT Southwestern Medical Center. They discuss how multisystem involvement can help distinguish TK2d from more common neuromuscular disorders and how we can achieve diagnostic clarity through advanced genetic testing, metabolic evaluation, and muscle biopsy.

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Bethany Lussier, MD Patients often present with respiratory symptoms that don’t quite align with typical pulmonary findings. So what clues should raise our suspicion that something beyond primary lung disease might be driving their condition? Joining Dr. Charles Turck to talk about the pulmonologist’s role in identifying respiratory manifestations of thymidine kinase 2 deficiency (TK2d) is Dr. Bethany Lussier. She shares the hallmark features to look out for, like orthopnea and hypoventilation, as well as best practices for using pulmonary function testing and inspiratory pressure measures to distinguish muscle weakness from primary lung disease. Dr. Lussier is an Associate Professor of Internal Medicine at UT Southwestern Medical Center in Dallas, where she's also a member of the Division of Pulmonary and Critical Care Medicine.

Guest: Henry Kaminski, MD Myasthenia gravis is an unpredictable condition, with symptoms and treatment responses that can vary widely from one patient to the next. Tune in to hear Dr. Henry Kaminski explain how to navigate this variability and make thoughtful, individualized treatment decisions. Dr. Kaminski is the Meta A. Neumann Professor of the Department of Neurology at The George Washington University School of Medicine and Health Sciences in Washington.

Host: Brian P. McDonough, MD, FAAFP Guest: Austin Larson, MD Emerging research on thymidine kinase 2 deficiency (TK2d) provides new insights into its global genetic prevalence and variability across genetic ancestries. By combining clinical literature with large genomic databases, investigators estimated disease incidence using carrier frequency under Hardy-Weinberg assumptions, uncovering significant differences between populations and key pathogenic variants. Joining Dr. Brian McDonough to discuss the findings and their implications for improving diagnostic accuracy and refining genetic testing strategies is Dr. Austin Larson. He's an Associate Professor of Pediatric Clinical Genetics and Metabolism at the University of Colorado Anschutz, and he presented these findings at the 2026 Muscular Dystrophy Association Clinical and Scientific Conference.

Guest: Mark Freedman, HBSc, MSc, MD, CSPQ, FAAN, FRCPC The role of cell-based therapies in multiple sclerosis (MS) is evolving, with immune system replacement via autologous stem cells, investigational mesenchymal repair strategies, and CAR T-cell approaches changing the treatment landscape. Hear from Dr. Mark Freedman as he dives into current and emerging mechanisms of action, which he also discussed at the 2026 Consortium of Multiple Sclerosis Centers (CMSC) Annual Meeting. Dr. Freedman is a Professor of Medicine in Neurology at the University of Ottawa and a Senior Scientist at the Ottawa Hospital Research Institute.

Guest: Mark Freedman, HBSc, MSc, MD, CSPQ, FAAN, FRCPC Cxplore how cell-based therapies are reshaping treatment strategies for multiple sclerosis (MS). Hear from Dr. Mark Freedman as he examines the scientific rationale behind emerging strategies. Dr. Freedman is a Professor of Medicine in Neurology at the University of Ottawa and a Senior Scientist at the Ottawa Hospital Research Institute, and he spoke about this topic at the 2026 Consortium of Multiple Sclerosis Centers (CMSC) Annual Meeting.