Dr. Baker is a Professor of Pediatrics with Tenure in the Section of Pulmonary and Sleep Medicine at the University of Colorado School of Medicine. He is the Medical Director of the Ventilator Care Program at Children’s Hospital Colorado which provides comprehensive care for infants and children with tracheostomies and home mechanical ventilation. He is a recognized expert in the fields of chronic ventilation, bronchopulmonary dysplasia (the chronic lung disease of prematurity), and advanced airway evaluations using fiberoptic bronchoscopy. He cares for cares for many children with MPS and hopes to help them breathe as comfortably as possible in the setting of their underlying conditions which are often quite severe.

Rafael Badell - Grau is a Postdoctoral Fellow in the Department of Pediatrics at UCSD in the Cherqui lab which focuses on developing stem cell and gene therapy strategies for degenerative multi - systemic disorders. Rafael obtained his Masters and PhD at Cardiff University where he worked on investigating the cellular mechanisms of neurodegenerative diseas es such as Huntington and lysosomal storage diseases with a specific focus on different forms of Batten and Niemann Pick diseases for the purposes of understanding the se disease and drug screening. During his Master’s of Research (MRes) he was awarded a le tter of commendation and the Best Student Award for the best performance overall in my cohort. His Ph.D. focused on improving the understanding of Batten Disease, a devastating lysosomal storage disorder , to find and develop novel small molecule therapeuti c approaches. Currently, Rafael is continuing to develop novel therapeutic approaches for lysosomal storage diseases; specifically, Mucopolysaccharidosis Type IIIC, hematopoietic stem cell and gene therapy strategies and in vivo mouse models of these disea ses under the supervision of Dr Stephanie Cherqui.

Lisa is a Board member at the National MPS Society and a licensed Genetic Counselor at Cincinnati Children’s Hospital. She has worked with individuals and families affected by MPS and other rare disorders for over 15 years. Her experience includes working with families to establish a diagnosis, initiate treatment and/or management, assist with insurance issues and provide care coordination and support. She has special interest in clinical trials and newborn screening in the state of Ohio. She was inspired to join the Board after a conversation with one of her patients’ mothers!

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.

Ryan Carr, Executive Director, Payer Field Team at Denali Therapeutics has a passion for the integrated delivery of healthcare in support of rare disease patient access to their therapies. Ryan has 25 years experience in Market Access having worked directly in the physician, hospital, health insurance and biotech industries.  Ryan lives in Austin, TX with his family of 5 including wife Kate and 3 teenage boys William, Johnny and Andrew.

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.

My name is Sarah Dawson and I am a 17 year old from Delaware. My family grew up with a family with two children who have MPS III. We watched them progressively get worsened symptoms as they aged and therefore we have a special place in our hearts for MPS. Last school year (My junior year of high school) I got the privilege to take the AP Research class and immediately saw this as a great opportunity to spread awareness of Sanfilippo Syndrome. Along the way I got to learn more about the disease and hear the emotional stories of different parents' lives. I am very excited to present my findings with you all and hopefully touch your hearts the way that my research has touched my own.  

Kate has worked with the MPS community for over 25 years and currently holds the role of Senior Director, Patient Advocacy, BioMarin Pharmaceutical, Inc. As global lead of the patient advocacy team in the enzyme therapies business unit, she has established partnerships with the patient community to ensure the perspectives and experiences of people living with these genetic conditions are incorporated into the development of therapies, as well as represented post approval and in the real-world setting. Prior to joining the pharmaceutical industry Kate worked for over 15 years in the pediatric neuropsychology program at the University of Minnesota Medical Center. It was in this role conducting evaluations of children and learning about the lived experience from their families that sparked a passion for understanding and supporting people with rare, genetically defined conditions.

Dr. Dickson is a pediatrician and medical biochemical geneticist, with active board certifications in both specialties. She received her bachelor's degree in Classics from the University of Chicago, and her medical degree from Columbia University College of Physicians and Surgeons in New York. Her main research focus is intra-cerebrospinal fluid (intraventricular and intrathecal) enzyme replacement therapy (ERT) for the mucopolysaccharidoses, with the goal of finding new and better treatments for patients. Her laboratory conducts bench-to-bedside research into treatments for MPS disorders. She is currently the Centennial Professor of Pediatrics and Genetics and the Division Director, Genetics and Genomic Medicine at the Washington University School of Medicine Department of Pediatrics.

Takayo Egawa joined JCR Pharmaceuticals Co., Ltd. in 1981, starting with a role in business communications and transactions with non-Japanese companies. Her current role as Director of International Affairs encompasses multiple activities including alliance management of non-Japanese business partners and notably in the last decade, relationship building with patient advocacy groups in the lysosomal storage disorders. She values communication with patient families to whom her deepest respect goes, along with caregivers, healthcare professionals and researchers devoted in the rare disease fields. 

Dr. Marybeth Ezaki did her training at Yale Medical School andUTSouthwestern in Dallas, TX. She spent the majority ofher career at Texas Scottish RiteHospital for Children. She was involved with resident and Fellow education in children’shand conditions. She has been retired since 2015 and now resides in Denver, CO

Amy Gaviglio is a certified genetic counselor and founder of Connetics Consulting, which provides public health genetics, genomics, and rare disease services across the country. She has been working in the newborn screening and rare disease space for the past 15 years. Amy currently works with the Centers for Disease Control and Prevention’s Newborn Screening and Molecular Biology Branch, the Association of Public Health Laboratories (APHL), Expecting Health, Gillette Children’s Hospital, and several other rare disease organizations. She is co-chair of APHL’s New Disorders in Newborn Screening workgroup and is a member of additional national groups including the Rare Disease Diversity Coalition and EveryLife Foundation’s Community Congress. She also serves as an Advisor for the Midwest Genetics Network and is on the MPS Society’s Scientific Advisory Board. Finally, Amy serves as Chair of the NBS Expert Panel for the Clinical and Laboratory Standards Institute and is currently the Chair of Minnesota’s Rare Disease Advisory Council.

Dr. Jackie Gofshteyn is a pediatric neurologist and physician-scientist who currently serves as the Clinical Development MPS Lead at REGENXBIO, where she helps guide research and development of gene therapies for rare diseases. She is passionate about bringing new treatments to children and families affected by neurological conditions. Dr. Gofshteyn has extensive experience in both clinical care and research. Before joining REGENXBIO, she held leadership roles in clinical development at Encoded Therapeutics and served as a pediatric neurology specialist at major academic medical centers including Mount Sinai, Weill Cornell Medicine, and Memorial Sloan Kettering. Her clinical background includes training in pediatrics, child neurology, and epilepsy at top institutions such as The Children’s Hospital of Philadelphia and Albert Einstein College of Medicine. Throughout her career, Dr. Gofshteyn has worked to better understand complex neurologic disorders, publishing over 15 research articles on epilepsy, immune-mediated brain diseases, and rare pediatric conditions. She has also been involved in numerous clinical trials and has presented her work internationally. Dr. Gofshteyn is excited to be part of the MPS Family Conference and looks forward to connecting with families, sharing updates on the latest research, and listening to the experiences and needs of the community.

Nathan Grant is a passionate advocate and researcher in the MPS community. He has conducted and published multiple research studiesin MPS, exploring topics such as aging, strategies to manage neurological and behavioral symptoms, and the experiences of family caregivers. He is also the author of The MPS Sibling: Short Stories for Brothers and Sisters, which highlights the voices of siblings around the world. His inspiration comes from his twin brother Nik, who has MPS II (also known as Hunter syndrome). From Cincinnati, Ohio, Nathan is currently a third-year MD/MBA student at Harvard Medical School and Harvard Business School. He received his undergraduate degree in biology from Harvard College and an MPhil in Health, Medicine, and Society from the University of Cambridge as a Harvard-UK Fellow. Outside of school and research, Nathan is the Founder and President of Siblings with a Mission, an international organization that supports siblings of people with complex health conditions and their families. Inspired by his brother, Nathan hopes to help improve outcomes for people with MPS and their families through clinical care, research and advocacy

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.   

Dr. Heldermon is a Professor in the Department of Medicine and a member of the UFHEALTH Cancer Center & McKnight Brain Institute. He is a breast cancer and lysosomal storage disease specialist in the Division of Hematology and Oncology at UF. He helped establish and direct the pediatric and adult multi-disciplinary lysosomal storage disease clinic at UF. He cares for patients with these diseases and performs clinical trials of gene replacement, substrate reduction and enzyme replacement therapies. He is also a physician scientist interested in developing gene and stem cell therapies for Sanfilippo Syndrome Type B and other inherited disorders. He has extensive experience with the MPS IIIB mouse model and using stem cell therapy and gene therapy vectors for treatment.  He specializes in mouse models of disease and use of experimental stem cell and gene therapy approaches as treatments. He performed the studies determining the optimal vectors, delivery methods and constructs that led to the tcmAAV8-coNAGLU studies in which he is optimizing dose, production and performing toxicology for an Investigational New Drug approval.    

Steve Holland is the proud father of three children with an attenuated form of MPS I-- Spencer, Madison and Laynie. Including wife/mother Amy, the Hollands live in Fort Worth, TX, where they host an MPS fundraiser each year. Steve and Amy have served on the board of directors of the National MPS Society since 1998, with Steve serving as president and treasurer at various times. He now chairs the Fundraising Committee and serves on the Family Support, Legislative and Governance Committees.

Annie Kennedy is chief of policy, advocacy, and patient engagement, at EveryLife Foundation for Rare Diseases. Focused on improving health outcomes for people living with rare diseases by advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy, Kennedy’s work includes building strong partnerships with policy makers, federal agencies, industry, and alliances. Kennedy has served within the community for nearly three decades through her roles with Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). In that time, she helped lead legislative efforts around passage and implementation of the MD-CARE Act (2001, 2008, 2014) and the Patient Focused Impact Assessment Act (PFIA), which became the Patient Experience Data provision within the 21st Century Cures Act (section 3001). She has engaged with the Food and Drug Administration and industry around regulatory policy and therapeutic pipelines, led access efforts as the first therapies were approved in Duchenne, and engaged with the Institute for Clinical and Economic Review around the development of the modified framework for the valuation of ultra-rare diseases. Kennedy’s community roles include service on the board of directors of Cure SMA, the PFDD Works coalition, the Patient Driven Values in Healthcare Evaluation (PAVE) Steering Committee, FasterCures Cures for Life initiative, the National Health Council’s PCORI Valuation Group, the Innovation and Value Initiative Patient Advisory Committee, the National Duchenne Newborn Screening Pilot Program Steering Committee, the Institute for Gene Therapies Patient Advocacy Advisory Council, the State Rare Disease Education Initiative (STRiDE) National Steering Committee, and as a member of the National Institutes of Health’s National Center for Advancing Translational Sciences Advisory Council and the Cures Accelerator Network Advisory Board.

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.
 

Terri Klein is the President and CEO of the National MPS Society. She has spent two decades advocating for individuals with rare diseases. She has been with the Society for 17 years. Her expertise is in organizational development, multi-tier fund development, and patient advocacy. Under her direction, she has implemented multiple new programs to improve access to healthcare for rare diseases. She is a Board Director of the International MPS Network. IMPSN focuses on global therapeutic access and humanitarian outreach. Terri is a founding member of the Mucolipidosis Research Collaborative Network. Her graduate degrees are in Public Administration and Nonprofit Management. Her advocacy efforts have been published in the areas of newborn screening and assay development. Her work on two successful newborn screening nominations for MPS I and MPS II, in collaboration with HRSA, is among the most significant achievements for healthcare equity in her career. Her daughter Jennifer was diagnosed with Mucolipidosis Type III and is a patient scientist.

Francyne Kubaski, MSc, PhD, is a Staff Scientist at the Biochemical Genetics Laboratory of the Greenwood Genetic Center in Greenwood, South Carolina. Her research focuses on the development and optimization of advanced diagnostic methodologies for inborn errors of metabolism, with particular emphasis on lysosomal disorders using tandem mass spectrometry. Dr. Kubaski plays an integral role in expanding the laboratory’s capabilities in highthroughput and high-specificity diagnostics. In addition to her work in diagnostics, Dr. Kubaski is deeply engaged in biomarker research aimed at improving disease diagnosis, prognosis, and therapeutic monitoring. Her efforts contribute to the identification of surrogate endpoints for clinical trials, thereby advancing translational research in rare genetic diseases. She also brings significant expertise in newborn screening for lysosomal disorders, reflecting her commitment to early detection and intervention in the field of metabolic medicine.

Maggie Kumbalek, BSN, RN, is a Registered Nurse and Patient Education Liaison at Sanofi, where she has supported MPS I patients and families since joining the company in 2021. In her current role, Maggie provides MPS I disease and treatment education to patients and healthcare professionals, as well as care coordination support. Prior to Sanofi, Maggie was a nurse clinician at University of Minnesota M Health Fairview in the pediatric Blood and Marrow Transplant and Cellular Therapy Clinic for 15 years, where she coordinated care for MPSI patients before, during, and after transplant.   She is deeply passionate about collaboration and partnership in the MPS community and is dedicated to delivering comprehensive, compassionate care for patients and their families.

Heather Lau is the executive director of Global Clinical Development at Ultragenyx, a company focused on development of therapies for rare genetic diseases. Dr Lau joined industry in 2021 after 10 years in academia where she was the Director of the Lysosomal Storage Disorders Program and the Associate director of Neurogenetics at NYU School of Medicine. She studied biology as an undergraduate at Cornell University, and holds a masters in biochemistry and molecular biology from New York Medical College. She obtained her medical degree from University of Rochester. She later trained in pediatrics at Montefiore Medical Center; and trained in neurology and neurogenetics at NYU School of Medicine. During her time at NYU, she ran an undiagnosed disease clinic to aid in the diagnosis and management of suspected inherited neurodegenerative diseases for both adults and pediatric patients. Her clinical research included investigating a range of modalities including small molecule (chaperones and substrate reduction inhibitors), protein (enzyme)-based and both systemic and CNS directed gene therapy for a variety of lysosomal disorders. She continues her academic career as adjunct assistant professor at Yale University in the Department of Internal Medicine.

Angela LeDay is a Senior Director in Medical Affairs at Denali Therapeutics.  Angela has over 20 years of medical affairs experience and has worked across a variety of therapeutic areas in pharma and biotech industry.  At Denali, Angela leads a field-based medical team focused on providing scientific information and medical support for lysosomal storage disorders.  Angela has a Doctor of Pharmacy degree and PhD in neuropharmacology. 

Robin LeWinter, PhD, has dedicated her professional life to advancing therapeutic strategies for underserved patient populations, focusing particularly on rare disease neurometabolic disorders. Throughout her career, Robin has played a pivotal role in collaborating with researchers, healthcare professionals, and regulatory bodies to enhance product development and ensure patient access to innovative therapies. She remains committed to fostering collaboration and advancing knowledge within the rare disease community, making a meaningful impact on the lives of patients and their families. With a PhD in neuroscience, she currently serves as lead of USA Medical Affairs & Medical Communications for JCR Pharmaceuticals.

Dr. Scott Loiler is Chief Scientific Officer at the National MPS Society. With over 30 years of experience in virology and gene therapy, Dr. Loiler is a recognized leader in AAV gene therapy. He has also worked alongside pioneers in the field, specializing in vector design, capsid modification, manufacturing, analytical methods, and regulatory processes. His extensive experience is instrumental in guiding the Society’s research initiatives, strengthening partnerships, and accelerating the development of transformative treatments.

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.  

Dr. Ravi Pathak, Director for US Medical, Lysosomal Storage Disorders, has over a decade of experience advancing care and research in rare diseases and cancer. With a background spanning clinical research, translational science, and medical affairs leadership, Dr. Pathak has contributed to the development of international clinical guidelines and supported policy efforts such as the Recommended Uniform Screening Panel (RUSP) nomination for MPS disorders. His work bridges science and strategy—leveraging genomics, real-world evidence, and digital innovation to accelerate diagnosis and improve outcomes for underserved patient communities. He is currently exploring how AI and big data can drive the next generation of discovery in rare disease research.  

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.

Wendy has over 25 years of executive and comprehensive fundraising experience. She has assisted in the leadership of Capital Campaigns as well as manage Corporate and Foundations relations components, annual fund programs coupled with her major and planned giving background in academia. She also led and organized a statewide gubernatorial campaign. Along with her B.S and MBA in Management, she received her Non-Profit Management Certification from Duke University and successfully completed her certification in the Accelerated Management Program from Yale University-School of Management. She was appointed by the (Mayor)– City of Durham, to Chair the Finance Oversight Committee for the Durham Performing Arts Center (DPAC) with a $127 million budget. She is also the current 2025 Chair for the Annual Fund for the National MPS Society. Wendy has also served on the Boards of Habitat for Humanity, The Salvation Army, and the Durham Rescue Mission.

Professor, University of Colorado School of Medicine, Department of Pediatrics, Section of Clinical Genetics and Metabolism.  Clinical Research Director, Section of Clinical Genetics and Metabolism.  Board certified Clinical Genetics and Clinical Biochemical Genetics Born and raised in Iowa, Dr. Thomas attended Loras College in Dubuque, Iowa for an undergraduate degree in biology before attending the University of Iowa College of Medicine.  She did her pediatric training at the University of Arizona Health Sciences Center and then completed her genetics training at the University of Colorado School of Medicine.  Subsequently, she joined the faculty of the University of Colorado School of Medicine in 1996 and has since remained there as an active member of the Department of Pediatrics, Section of Clinical Genetics and Metabolism.  Dr. Thomas has devoted most of her time to caring for individuals of all ages with inborn errors of metabolism in the Rocky Mountain region.  She has a particular interest in lysosomal storage disorders (especially the MPS disorders), phenylketonuria, homocystinuria, newborn screening, and regional care.  She is the Director of Clinical Research for the Section of Clinical Genetics and Metabolism and is a faculty member of the UCDHSC Human Medical Genetics Program.  Past positions have included Interim Section Head of the Section of Clinical Genetics and Metabolism, the Director of the Inherited Metabolic Diseases Clinic at Children’s Hospital Colorado, Director of the University of Colorado Medical Genetics Residency Program, and co-Director of the Mountain States Regional Genetics Network.  Teaching medical students, pediatric and genetic residents, and graduate genetic counseling students is also a part of her duties. She has been actively involved in therapeutic research for PKU, lysosomal storage disorders, urea cycle disorders, and homocystinuria.  

Prior to joining BioMarin in 2005, Ashley worked as a genetic counselor and program director of Northside Hospital’s Hereditary Cancer Program in Atlanta, GA. In 2005, the newly formed BioMarin was in the early stages of building a medical affairs division with three Medical Science Liaisons. Ashley joined BioMarin as one of the initial MSLs, covering the Southeastern US to launch Naglazyme for MPS VI. Currently, Ashley is the US Medical Director within the enzyme replacement division where she works closely with the MPS VI, MPS IVA, and CLN2 communities. In 2019, Ashley was awarded the Janus lecture at the Annual NSGC conference. This presentation focused on her experience in the treatment of MPS and how ongoing research can change the understanding of rare disease. Although a North Carolina native, she now resides in New Orleans with her husband and two children.

Kristin Voorhees joined Ultragenyx in 2017 and is a Senior Director of Patient Advocacy and Patient Engagement. Kristin partners with patient advocacy groups and communities to understand the experiences of those impacted by rare and ultrarare diseases and helps to integrate the perspectives of patient and families into company and program decision-making. Kristin has 15+ years of experience spearheading patient engagement and patient-focused programs in close collaboration with patients, caregivers, clinicians, researchers, and the biopharmaceutical and diagnostics industries. Kristin holds a BA in Communication Studies from James Madison University and a Master of Health Communication from Emerson College and Tufts School of Medicine. 

As the Medical Science Liaison at Orchard Therapeutics, Claire strives to bring knowledge and scientific sharing to the community of providers in the western United States. Her commitment is to ensure there is an awareness of potential life-saving research that extends often into treatment areas.

Klane K. White, MD, MSc is a pediatric orthopaedic surgeon and Director of the Skeletal Health and Dysplasia Program at Seattle Children’s Hospital, and Professor of Orthopaedic Surgery at the University of Washington.

Dr. White is an internationally recognized expert and advocate in the care of mucopolysaccharidosis and skeletal dysplasia.  He serves on the Medical Advisory Board of Little People of America, the Scientific Advisory Board of the National MPS Society and is an executive founding member of the Skeletal Dysplasia Management Consortium.

In addition to skeletal dysplasia and the mucopolysaccharidoses, Dr. White’s clinical and research interests also include the diagnosis and management of early onset scoliosis, metabolic bone disease, and complex spine deformity. Dr. White has authored more than 90 peer-reviewed publications, articles and book chapters, serves as reviewer for multiple medical journals and is principal investigator in several multicenter research studies for rare disease.  

Tom Wier has been married for 38 years to Blanca Wier, and is the proud father of four sons, including Frankie (MPS II), who passed away in 2014. Tom is also a 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, Tom was 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.

Dr. Tim Wood is director of the biochemical genetics laboratory at the Children’s Hospital of Colorado. He is an associate professor of Pediatrics at the University of Colorado Anschutz Medical Campus. He received his Doctor of Philosophy in human genetics from the University of Alabama at Birmingham. He is certified in clinical molecular and biochemical genetics by the American Board of Medical Genetics and Genomics.  

Dr Wood has published numerous articles on lysosomal storage disorders and MPS, focusing on their laboratory diagnosis. Dr. Wood serves on the board of directors for Society of Inherited Metabolic Disease and on the scientific advisory board for Cure Sanfilippo Foundation. 

A biopharmaceutical leader with over 20 years of diverse US and Global experience across Rare Diseases, Oncology, Diabetes, and Neuroscience. Natalie is passionate about building deep connections with the patient communities we serve and the healthcare and advocacy teams who work tirelessly to support patients in their quest for better health. Her innovative leadership style challenges the status quo to drive meaningful impact where unmet needs and heath inequities remain.