Dr. Elizabeth Braunlin is a Board-certified pediatric cardiologist and physician-scientist at theUniversity of Minnesota. She has been involved in the cardiac evaluation and follow-up ofpatients with MPS since the inception of the bone marrow transplantation program for MPSdisorders at the University some forty years ago. She has also defined the cardiaccharacteristics of various mouse models of MPS I and provided information on the importanceof inflammation as essential to the development of the cardiac phenotype in MPS I mice. Sheserves as a reviewer of manuscripts and grant proposals for MPS disorders. She has beenprivileged tobe a part of the journey for manyofher heroes,theMPS patientsand theirfamilies.

Stephanie Cozine is the Board Secretary at the National MPS Society and mother to Ethan (MPS I) and Claire. Ethan was diagnosed with MPS I in 2016 at the age of 9 months and received a life-saving bone marrow transplant at 11 months. It wasn’t until 2020 that Stephanie joined the National MPS Society Board of Directors, where she has since served as the chair of the Education/Communication and Advocacy Committees, while actively participating in additional committees. Beyond her role serving on the Executive Committee as Secretary, she also currently serves as the Advocacy Committee Chair. Stephanie has a passion for newborn screening, empowering youth advocates, and expanding treatment access for patients and their families. She has a Bachelor of Science in Biology from Texas A&M University and a Doctor of Pharmacy from the University of Houston. Her professional experience includes hospital pharmacy and pharmacy management, and she frequently appears as a guest lecturer at pharmacy schools and allied health schools.

Paul R. Harmatz, MD, is Professor in Residence, Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital Oakland.   He is the Medical Director of the Pediatric Clinical Research Program in Mucopolysaccharidoses (MPS) and Related Disorders.  Dr. Harmatz completed his Pediatric internship and residency training at Harbor-UCLA Medical Center. Following a clinical and research fellowship in Pediatric Gastroenterology and Nutrition at Massachusetts General Hospital, he remained in Boston until 1992 as faculty in Pediatrics at Harvard Medical School. During the last 25 years, Dr. Harmatz has participated in clinical trials with MPS I, MPS II, IIIa, IIIb, IVa, VI, VII, and has managed clinical care for patients with MPS living in northern California.   

Sharon is a longtime patient advocate and thought leader in rare disease, known for her ability to unite public officials, researchers, biotech representatives, industry leaders, and other advocates in the pursuit of rare disease treatment development and impactful public policies. Her journey in advocacy began with the founding of Taylor’s Tale, an organization she co-founded in honor of her late daughter, Taylor, to raise awareness and funding for CLN1 disease (a form of Batten Disease) research. Under her leadership, Taylor’s Tale grew from a grassroots initiative into a force in the fight against rare diseases. Beyond her work with Taylor’s Tale, Sharon has served in key roles that reflect her dedication to improving the lives of rare disease patients and caregivers. As Senior Lead of Advocacy at Aldevron, she worked to educate, connect, and improve understanding across the stakeholder community contributing to groundbreaking advancements.

Ms. Klein is a rare disease patient battling Mucolipidosis type lll alpha/beta and a research scientist currently employed at Odylia Therapeutics Inc. as their head of Operations and Program Management. She received her undergraduate degrees in human biology and psychology and her Master’s degree in physiology from North Carolina State University. Upon graduation, she entered the biotech industry, where she expanded the drug discovery pipeline for rare diseases at Collaborations Pharmaceuticals Inc. (CPI) and is currently developing gene therapy products from early pre-clinical through phase 1 clinical trial for rare diseases at Odylia Therapeutics.

Sharyn Madison brings more than two decades of experience as a holistic healer, educator, and advocate to her work in the MPS community. As a family member touched deeply by Hunter’s Syndrome (MPS II) across four generations, Sharyn speaks with both personal insight and compassion. Her lived experience as a mother, sister, and niece of loved ones with Hunter’s Syndrome (MPS II) gives her a unique understanding of the challenges and triumphs that accompany rare genetic disorders.  After a career in public education and coaching, Sharyn founded and operated a Wellness Center in Central New York, offering services as a certified Aesthetician, Bioenergetics Facilitator, and Reiki Master. She is trained in a wide array of holistic therapies, including Crystal Healing, Color Therapy, Chakra Balancing, Vibrational Healing, and Essential Oils. A respected teacher of Reiki, she leads retreats and continuing education programs, and is credentialed by the National Certification Board for Therapeutic Massage and Bodywork (NCBTMB) to provide CEU credits for Licensed Massage Therapists. Sharyn is also the author of Spirit Speaks, a book exploring spiritual connection and healing, available on Amazon. Her passion for education and community service has shaped her lifelong dedication to empowering others through healing, support, and knowledge. 

Joseph Muenzer, MD, PhD, is the Bryson Distinguished Professor in Pediatric Genetics and a Professor in the Department of Pediatrics and Department of Genetics at the University of North Carolina at Chapel Hill, where he has practiced since 1993.  He received an MD (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, OH.  He completed a residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, NIH, in Bethesda, MD.  Dr. Muenzer has been the chair of the North Carolina Newborn Screening Advisory Committee for >30 years. He is the Director for the recently created Joseph Muenzer MPS Research and Treatment Center at the University of North Carolina at Chapel Hill. An academic based Mucopolysaccharidoses (MPS) Center created to improve the lives of MPS individuals and their families.  Dr. Muenzer is involved in the diagnosis, management, and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses and newborn screening for MPS I and MPS II.  He is board certified in Pediatrics and in Clinical Biochemical/Molecular Genetics.  He has been actively involved in developing new treatments for MPS disorders his entire professional career.  He has created a mouse model for Hunter syndrome (MPS II) that has been widely used to develop new treatment for MPS II. He has been a principal investigator (PI) for IV enzyme replacement clinical trials (ERT) for both MPS I and MPS II resulting in FDA approval. His recent clinical research has focused on the development of new treatments for the brain disease in MPS. Dr. Muenzer was the PI for Phase I/II and Phase II/III intrathecal enzyme replacement clinical trials for severe MPS II and now the post-trial access PI.  He has been the principal investigator for >20 MPS clinical trials/observational studies.  Dr. Muenzer is currently the PI for a Phase I/II gene editing clinical trial for MPS II and a Phase I/II and phase II/III IV ERT clinical trials to treat the brain disease in MPS II.    

Samantha (MPS1) is a therapist, educator, and advocate specializing in relationships, disability, and intimacy (MA, LPCC, MFTC). Passionate about inclusivity, Samantha helps individuals and couples navigate challenges related to disability, chronic illnesses, and neurodivergence. She also provides workshops, presentations, and social media education to break down stigma and promote empowerment in oneself and relationships. In her free time, she can usually be found devouring a new book, baking, or tackling a new hobby. She values radical authenticity and encourages others to embrace every aspect of themselves.

Skeletal abnormalities are an early and prominent feature of MPS. Bone and joint disease in MPS affects the spine, hips, and upper and lower extremities. Medical therapies including enzyme replacement therapy and hematopoietic stem cell transplant have been, and continue to be, developed for the treatment of MPS, allowing patients to live longer, more functional lives. These therapies, however, have provided only modest benefit for skeletal deformities, necessitating monitoring and surgical intervention by an orthopedic surgeon. The purpose of this presentation is to provide understanding of the basic science, clinical presentation, radiographic findings and surgical treatment of musculoskeletal disease associated with MPS.

Dr. White is associate professor in the Department of Orthopedics and Sport Medicine, University of Washington School of Medicine. His internship in general surgery and residency in orthopedic surgery were completed at the University of California San Diego, where he also served as an NIH fellow in orthopedic and basic science research. Dr. White completed a fellowship in pediatric orthopedics and scoliosis at Texas Scottish Rite Hospital for Children in Dallas. His specialty interests include the treatment of pediatric hip disease, scoliosis/spinal deformity and skeletal dysplasias, with a specific interest in MPS disorders.

Dr. White is a member of the American Academy of Orthopedic Surgeons, the Scoliosis Research Society and Pediatric Orthopedic Society of North America, and serves as chair of the National MPS Society Technical (Research) Committee.

Married for 37 years to Blanca Wier, proud father of four sons, including Frankie (MPS II) who passed away in 2014. Retired dual service (Army/Navy) veteran of 22 years whose final tour included serving with a counterintelligence unit at Fort Sheridan, IL/Fort Meade, MD. After receiving an Honorable Discharge from the U.S. Army in 2009, has been presently employed as a Representative for the Social Security Administration in Woodstock, IL, serving the community, performing in depth analysis of benefits and answering any specific questions and concerns from the public at large.