Priya S. Kishnani, MD, is Chief of the Division of Medical Genetics, Department of Pediatrics and Director of the YT and Alice Chen Center for Genomic Research. She holds certifications from the American Board of Medical Genetics and the American Board of Biochemical Genetics. Dr. Kishnani has numerous appointments at Duke University Medical Center, serving as Director of the Glycogen Storage Disease Clinical and Research Program, Director of Clinical Trials, and Director of the Metabolic Clinic.

Throughout her career, Dr. Kishnani’s clinical and research efforts have focused on enhancing the continuity of care for individuals with rare and chronic genetic conditions using a multidisciplinary team approach, with an overarching goal of translational therapeutic development. Her passion is to establish the highest quality of care and treatment by understanding the emerging natural history of individuals through investigator-initiated studies and clinical research trials with a focus on glycogen and lysosomal storage disorders. She has extensively published her work on these conditions, their long-term complications, the development of treatment strategies, and long-term outcomes of treatment in clinical trials in various research publications, textbooks, and scientific reviews.

Dr. Kishnani has served a pivotal role in the development of treatments for Pompe disease (PD)—most notably first- and second-generation enzyme replacement therapy (ERT). Based on her research and clinical experience with PD, she has identified several factors that influence medical and developmental outcomes for patients, including early initiation of ERT and the extent of muscle involvement when ERT is initiated. Dr. Kishnani’s group also has been responsible for the development and validation of a reliable blood-based assay for measurement of acid alfa glucosidase using dried blood spots and is currently working to add PD to newborn screening panels nationwide. The success she has achieved in treating PD has set the stage for treatment approaches for other neuromuscular diseases, including spinal muscular atrophy and Duchenne muscular dystrophy, and for the development of a clinical consortium of neurology experts.

Ayesha Ahmad, MD, is Professor of Pediatrics and Medical Director of the Division of Pediatric Genetics, Metabolism and Genomic Medicine in the Department of Pediatrics at the University of Michigan in Ann Arbor. She is also Medical Director of the Pediatric Medical Specialties Ambulatory Care Unit at Michigan Medicine. She is board certified in clinical genetics and clinical biochemical genetics from the American Board of Medical Genetics and Genomics (ABMGG). She served on the Board of Directors of ABMGG from 2013-2019, including as the Chair of ABMGG for 2 years (2018-2019).

Dr. Ahmad’s clinical and research interests include long-term follow-up and clinical outcomes of inborn errors of metabolism detected by newborn screening and treatment protocols for inborn errors of metabolism, including gene therapy and mRNA therapy. She has initiated and developed several new programs and clinics at Michigan Medicine dedicated to the evaluation, diagnosis, and management of patients with biochemical genetic disorders, including a multidisciplinary Centers for Medicare and Medicaid Services, Biochemical Genetics Clinic, a dedicated Lysosomal Storage Disorders Clinic, and the Newborn Screening Program for Pompe Disease and Mucopolysaccharidosis Type I (MPS1). She has worked closely with the Michigan Department of Health and Human Services (MDHHS) in bringing expanded newborn screening to Michigan, including the addition of Pompe disease to Michigan’s newborn screening panel. She remains actively involved as a member of the MDHHS Newborn Screening Technical Advisory Committee and the Metabolic Quality Improvement Committee and as the Co-Chair of the Pompe and MPS1 Advisory Committee in Michigan.

Kenneth I. Berger, MD is Professor of Medicine, Neuroscience and Physiology at New York University (NYU) School of Medicine, and Director of the André Cournand Pulmonary Physiology Laboratory at Bellevue Hospital. Dr. Berger received his medical degree from Boston University School of Medicine in 1989 and completed his training in internal medicine and pulmonary/critical care medicine at Montefiore and NYU Medical Center. He is currently Director of the Pulmonary Physiology Laboratories at NYU/Bellevue Medical Center.

Dr. Berger specializes in pulmonary, critical care, and internal medicine. He has particular expertise in pulmonary physiology and the evaluation of patients with acute and chronic respiratory disease in the outpatient clinic and of patients with respiratory failure in the intensive care unit. His primary research interests have focused on ventilatory control and respiratory-renal interaction, CO2 homeostasis in sleep apnea, integrated cardiopulmonary function in obesity, and distal airway physiology and biology.

Dr. Berger has also been involved in clinical studies of patients with a variety of lysosomal storage diseases, including Pompe disease (PD). He is a member of the North American and International Pompe Disease Registry Board of Advisors. He has co-authored a number of peer-reviewed publications on the diagnosis and treatment of PD.

Tracy Boggs, PT, NCS, graduated from the University of North Carolina with a master’s degree in physical therapy in 1999 and is a board-certified clinical specialist in neurologic physical therapy. She has more than 20 years of experience working with adults with neurologic and neuromuscular disorders. Since 2011, she has worked with people who have genetic metabolic disorders, such as Pompe disease and several other glycogen storage diseases, in clinic and as part of multiple research studies.

Laura Case, PhD, PT, DPT, MS, PCS, C/NDT, is a board-certified clinical specialist in pediatric physical therapy. She has dedicated her career to teaching, research in childhood-onset neuromusculoskeletal disorders, and the lifelong treatment of people with childhood-onset neurologic and neuromuscular disorders such as cerebral palsy, traumatic brain injury, Duchenne muscular dystrophy, spinal muscular atrophy, Pompe disease, myelodysplasia, juvenile rheumatoid arthritis, and brachial plexus injury.

She has been involved in numerous clinical trials for the treatment of disorders including Pompe disease and other metabolic disorders, cerebral palsy, Duchenne muscular dystrophy, and spinal muscular atrophy. Dr. Case has participated in the development of international guidelines for the management of Duchenne muscular dystrophy, Pompe disease, and other glycogen storage diseases.

She teaches and consults internationally, has worked on a number of Center for Disease Control and Prevention task forces, and has served on numerous committees.

Paula R. Clemens, MD,is a clinician and scientist at the University of Pittsburgh. She has expertise in the care of adults with neuromuscular diseases such as Duchenne and Becker muscular dystrophy, myotonic dystrophy, spinal muscular atrophy, and late-onset Pompe disease. Her primary research focus is translational approaches that advance the understanding and treatment of genetic muscle disorders, including Duchenne and Becker muscular dystrophy and late-onset Pompe disease. In addition to her university-based practice and research efforts, she directs the Neurology Division at the VA Pittsburgh Healthcare System.

She has been a member of the Cooperative International Neuromuscular Research Group and a site principal investigator since its founding in 2000. She has been Medical Director since 2010.

David Kronn, MD, FACMG is the Chief of Medical Genetics and the Director of the Inherited Metabolic Disease Center at Westchester Medical Center, Valhalla, New York. He is an Associate Professor of Pathology and Pediatrics at New York Medical College. He graduated from medical school at Trinity College Dublin and completed a residency in pediatrics and fellowship in medical genetics, both at New York University Medical Center. He has been at Westchester Medical Center since 1996. The Inherited Metabolic Disease Center became a designated New York State Newborn Screening Program referral site in 2007. His research interests include the expansion of newborn screening and the management of lysosomal storage disorders.