2025 Adult Pompe Conference

Stephanie DeArmey is a physician assistant who has worked within the Department of Pediatrics and Division of Medical Genetics at Duke University for 25 years. She specializes in Lysosomal Storage Disorders including Pompe Disease and Gaucher Disease and cares for patients with other metabolic disorders. She has expertise with enzyme infusion treatments and infusion associated reactions. She has extensive experience with clinical trials including responsibilities as a Sub-Investigator.

Dr. Priya Kishnani, MD, is Chief of the Division of Medical Genetics in the Department of Pediatrics, and Professor of Molecular Genetics and Microbiology at Duke University Medical Center. She holds American Board of Medical Genetics and American Board of Biochemical Genetics certifications. At Duke University Medical Center, she is Director of the Glycogen Storage Disease Clinical and Research Program, Director of Clinical Trials, and Director of the YT and Alice Chen Center for Genomic Research and the Metabolic Clinic. 

Her passion is to establish highest-quality care and treatment by understanding the emerging natural history of individuals with glycogen and lysosomal storage disorders through investigator-initiated studies and clinical trials. She has published numerous articles, reviews, and textbook contributions on these conditions.

Dr. Kishnani participated in the clinical development of alglucosidase alfa to treat Pompe disease (PD), which attained US Food and Drug Administration (FDA) approval in 2006, in the development of avalglucosidase alfa-ngpt, approved by the FDA in 2021 and also Pombiliti and Opfolda in 2023. She also focuses on other next-generation therapies including gene therapy. 

Dr. Kishnani and her team were integral to the nomination and approval for the addition of PD to the United States Recommended Uniform Screening Panel for newborn screening in 2015.

Tracy Boggs is a physical therapist at Duke that specializes in neurologic and genetic metabolic conditions. She enjoys being part of a multidisciplinary team to optimize care and outcomes for adults that have Pompe, both in the clinic and as part of multiple research studies.

Ally Bartkowiak treats individuals with chronic, acute, and degenerative neurologic conditions, including CVA, MS, Parkinson's as well as chronic and acute pain. Her advanced training in orthopedics and manual therapy, as well as her background in sports allows her to see the whole patient, not just their diagnosis or injury.

Dr. Mansour is a pulmonologist, intensivist, and sleep medicine specialist with a dedicated focus on respiratory disorders associated with neuromuscular diseases. He earned his medical degree from the Lebanese University in Beirut before completing an internal medicine residency and a pulmonary/critical care fellowship at Northwell Health in New York. Dr. Mansour then pursued a fellowship in sleep medicine at Yale University in Connecticut. Currently, he is an assistant professor of medicine and neurology at Duke University, where his clinical and research efforts are devoted to improving respiratory care for individuals with neuromuscular disorders and chronic respiratory failure.

Harrison Jones is an Associate Professor in the Department of Head and Neck Surgery & Communication Sciences (HNSCS) at Duke University School of Medicine and a clinical speech pathologist at Duke University Hospital. The majority of his professional effort is dedicated to seeing patients and conducting clinical research. His clinical background is in speech pathology and in this role, he evaluates and treats communication and swallowing disorders in adults and children. His research interests include neurogenic speech and swallowing disorders and behavioral interventions. Much of this work has been conducted in Pompe disease where he has made a number of novel observations including the first reports detailing dysarthria and dysphagia in pediatric survivors of infantile-onset Pompe disease, the presence of tongue abnormalities and swallowing disorders in adults with late-onset Pompe disease, and the use of respiratory muscle training to treat respiratory muscle weakness in these populations. He also serves as the Medical Director for HNSCS’ Clinical Research Unit.

Heather Shorten is the founder and Executive Director of Pompe Alliance. She earned her bachelor’s degree in Sociology from Cleveland State University in 1999 and a master’s degree in social work also from Cleveland State University in 2004. She began advocating for rare disease issues in 2016 after being diagnosed with Pompe Disease in 2015. As Executive Director, Heather directs all operations of the organization including media communications and advocacy. In February of 2025, she presented a poster at the WORLD Symposium about the research Pompe Alliance collaborated on regarding mental health in the Pompe community. Additionally, she presented at the World Muscle Society conference in 2023, speaking on my experience as a Pompe patient and the leader of a patient organization. Heather has also presented for industry partners as part of their Rare Disease Day and Pompe Awareness Day events. She is extremely passionate about equity in healthcare and have participated in several panel presentations on the topic. Additionally, Heather spent 15 years working with children and families in child welfare specializing in the co-occurrence of child abuse and domestic violence, presented at international conferences on the subject, and authored a paper on meaningful consequences for perpetrators of domestic violence.

Nadia Bodkin, PharmD, MS is a seasoned rare disease advocate, born with three rare genetic conditions. Nadia went straight into professional patient advocacy post-graduation from Rutgers University through a foundation she founded as a pharmacy student called EDSers United. Since entering the rare disease ecosystem through the EDS community, Nadia has held numerous executive leadership positions within various rare disease patient advocacy-focused organizations, developing several community-focused campaigns, programs, and initiatives in collaboration with industry-based and academic-based stakeholders, all of which have consistently had one goal in common: supporting the people of the rare disease community. 

After spending over a decade developing and executing programs across the drug development continuum, Nadia decided to focus on the needs of the global rare disease community through the founding of the Rare Advocacy Movement (RAM). Founded in 2017, today RAM has evolved into a trusted collaborative network of opportunities for community-based and community-focused stakeholders across the rare disease ecosystem.

As a c-suite executive, JC scaled multiple digital health startups towards successful exits, including C3i, a clinical trial service provider, which he grew from 20 employees in NYC to 1,500 globally. 

Today, JC advises early-stage digital health companies including how to adopt Generative AI.

JC operates MyRareData with a mission to help rare disease groups build financially sustainable collaborations with digital health companies.

In 2024, he co-founded Mental Health For Rare, a non-profit dedicated to expanding access to Mental Health for Rare Patient and families. 

JC is on the board of Ben’s Friends, an online community used by over 75,000 rare patients & families.

Dr. Gentry is a Nurse Practitioner with the Duke University Palliative Care Consult Service, faculty at the Duke University School of Nursing, a member of the Duke Hospital Ethics committee and a past president of the Hospice and Palliative Nurse’s Association. Dr. Gentry is a recipient of the HPNA Distinguished Nursing Practice Award, the ONS Foundation End of Life Career Development Award, the North Carolina Great 100 Nurses, the 2012 Advanced Certified Hospice and Palliative Nurse of the Year, and the Friends of Nursing Award for Nursing Mentorship.  Jennifer is a graduate ELNEC trainer and a past recipient of the ELNEC Award of Excellence from the American Association of Colleges of Nursing.   Dr. Gentry is an adult and geriatric nurse practitioner and one of the primary focuses of her practice is caring for older adults. Prior to her current role, she provided medical care for frail, older adults in both the community and in skilled nursing facility settings. Dr. Gentry is enthusiastic about mentoring, teaching and helping members of the health care team navigate ethically challenging clinical situations.

Surekha Pendyal has been practicing as a metabolic dietitian since 1997 when NC began the pilot project to expand newborn screening using MS/MS technology. She gained vast experience in treating a variety of inherited metabolic disorders (IMD), in coordinating newborn screening, in conducting educational activities for patients and families and publishing a patient newsletter. In 2015, she joined the Div. of Medical Genetics at Duke University where she inherited a large population of patients with glycogen storage diseases (GSD), a challenge she was really looking for. She has been an active member of GMDI since its inception. Surekha has authored a book chapter on IMD, published many articles on IMD in peer-reviewed journals and is an invited speaker at professional conferences and annual family meeting for GSD. She considers the best part of her job to be teaching about IMD to patients, medical and dietetic students and establishing life-long relations with patients and their families.

Jessica Doxey is a clinical research genetic counselor working with Dr. Kishnani’s research team at Duke. She is currently working on several studies involving Pompe disease, including a study aiming to reclassify Pompe disease genetic variants of uncertain significance and a study evaluating children diagnosed with late-onset Pompe disease through newborn screening.

Dr. Natalia Gonzalez is an Assistant Professor of Neurology at Duke University. She cares for patients with neuromuscular disorders and performs diagnostic testing including electrodiagnostic studies, muscle biopsy, and neuromuscular ultrasound. She has a special interest in understanding the role of nerve and muscle ultrasound in disease diagnosis and measurement of progression. 

Dr. Karra Jones is an Associate Professor of Pathology in the Division of Neuropathology at Duke University with a specific focus on neuromuscular diseases.  She received her MD and PhD from the University of Kansas School of Medicine.  She completed her anatomic pathology residency and neuropathology fellowship at the University of California, San Diego where she then practiced diagnostic neuropathology and led the neuromuscular pathology service.  She subsequently worked at the University of Iowa where she expanded her neuromuscular expertise and continued to practice neurosurgical neuropathology.  Dr. Jones has been at Duke University for 3 years and has taken on roles as the Section Head of Muscle and Nerve Pathology, the Medical Director of the Electron Microscopy and Immunochemistry Laboratory, and the Program Director for the Neuropathology Fellowship.  Her research interests include muscular dystrophies and genetic myopathies, and she is a consultant for neuromuscular disease gene therapy clinical trials. 

Stephanie DeArmey is a physician assistant who has worked within the Department of Pediatrics and Division of Medical Genetics at Duke University for 25 years. She specializes in Lysosomal Storage Disorders including Pompe Disease and Gaucher Disease and cares for patients with other metabolic disorders. She has expertise with enzyme infusion treatments and infusion associated reactions. She has extensive experience with clinical trials including responsibilities as a Sub-Investigator.