Rafael Badell-Grau, PhD, is a postdoctoral fellow in the Department of Pediatrics at the University of California, San Diego in the Cherqui lab, which focuses on developing stem cell and gene therapy strategies for degenerative multi-systemic disorders. Dr. Badell-Grau obtained his master’s degree and PhD at Cardiff University where he worked on investigating the cellular mechanisms of neurodegenerative diseases, 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 these disease and drug screening. During his Master’s of Research he was awarded a letter of commendation and the Best Student Award for best overall performance. His PhD focused on improving the understanding of Batten disease, a devastating lysosomal storage disorder, to find and develop novel, small-molecule therapeutic approaches. Currently, Dr. Badell-Grau is continuing to develop novel therapeutic approaches for lysosomal storage diseases, specifically MPS IIIC; hematopoietic stem cell and gene therapy strategies; and in vivo mouse models of these diseases under the supervision of Dr. Stephanie Cherqui.

Dr. Barbara K. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine  and an Attending Physician in the Division of Genetics, Birth Defects and Metabolism at the Ann & Robert H. Lurie Children’s Hospital of Chicago where she directs the MPS/ML Treatment Center. She is Board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics.  Dr. Burton is an investigator in numerous natural history studies and clinical trials of new therapies for various genetic disorders, including many trials in the MPS disorders.   She has published over 300 peer-reviewed articles, 50 chapters in books and is an editor of two textbooks.

Dr. Burton is active in professional organizations and is a Past-President of the Society for Inherited Metabolic Disorders and the Chicago Pediatric Society. She served for four years as a member of the Secretary’s Advisory Committee on Heritable Disorders in Infants and Children, the federal advisory committee that makes recommendations regarding newborn screening in the US. She is an Emeritus Member of the Board of Directors of the Greater Chicago Area March of Dimes and received a Lifetime Achievement Award from the March of Dimes in 2018. She is a member of the Scientific Advisory Board of the National MPS Society and of Project Alive and serves on the medical advisory board of a number of other patient advocacy organizations.

Brings 23 years of leadership in the Bio Pharma industry with a focus on helping patients and their caregivers. His work includes both FDA approved treatments and early-stage therapies across Central Nervous System therapeutic areas and rare disease. In his most recently role, leading US Marketing for Takeda’s Lysosomal Storage Disorders Franchise, Erik’s work focuses on supporting patients and their families in both MPSII and Gaucher Disease.

Stephanie Cozine is an MPS I mother from Delaware.  Her son Ethan was diagnosed in 2016 and received a bone marrow transplant a few months later.  She attended her first family conference in 2017 and fell in love with the National MPS Society members and the mission.  In 2018, she attended her first advocacy trip at Capitol Hill during Rare Disease Week.  Her passion for advocacy grew, primarily in the area of newborn screening at both the state and federal levels.  On this trip she met so many incredible people and felt if they could share their stories, they could inspire so many more!  This was the inspiration for the Our Voices Podcast.  She has been serving on the board of directors since 2020, and continues to serve as an Advocacy Committee Chair. 

Annamarie is passionate about partnering and learning from rare disease patient communities. During her 17+ years in rare disease patient advocacy roles within industry, she continually seeks to incorporate the patient perspective by soliciting input to improve understanding of the patient journey to support decision-making, including clinical trial design and data generation for regulatory and HTA submissions. She embraces opportunities to foster mutually beneficial partnerships with patient organizations on areas of common interest, such as disease awareness, diagnostic initiatives, capacity building, and supporting networking opportunities. Annamarie currently leads global patient advocacy at Orchard Therapeutics and prior to this held similar roles at ProQR Therapeutics and Genzyme (Sanofi Genzyme).

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. 

Julie Eisengart is an Associate Professor of Pediatrics at the University of Minnesota Medical School and the Director of the Neurodevelopmental Program in Rare Disease. As a pediatric neuropsychologist, she specializes in rare neurodegenerative disorders of childhood, evaluating functional course of disease and response to therapy. Her research has focused on the MPS disorders, particularly examining outcomes of early diagnosis, newborn screening, and novel therapies. Her research extends to defining and measuring aspects of disease that are under-represented in the clinical and research communities but are important and meaningful to patients and families, such as neurobehavioral symptoms and the family lived experience.

Dr. Eisengart has been a principal or co-investigator, and research mentor, on a number of observational studies or clinical trials for MPS and other rare diseases. She has served on the Technical Expert Panel for the U.S. Secretary of Health and Human Services to consider the addition of MPS II to the Recommended Uniform Screening Panel (RUSP), and on the Working Group for the Minnesota Department of Health to implement newborn screening for MPS I and other rare disorders. Presently she sits on the National Organization for Rare Disorders (NORD) Training Work Group and the Critical Path Institute Rare Disease Clinical Outcome Assessment Consortium.

Lisa Garrity is a pharmacy clinical specialist in neurology at Cincinnati Children’s Hospital Medical Center, working primarily with outpatients in the Comprehensive Epilepsy Clinic. She graduated from Miami University in 2001 with a Bachelor of Science in biochemistry, earned a Master of Science in chemistry in 2004 at the Massachusetts Institute of Technology, and a doctorate in pharmacy from the University at Buffalo in 2008. She completed a Pharmacotherapy residency in 2010 at the Cleveland Clinic. Her areas of interest include status epilepticus, care of women with epilepsy and improving medication access for patients with epilepsy. She also has lead work on developing policies for medical marijuana and cannabidiol and has presented at national meetings around use of cannabinoids in epilepsy.

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 20 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.  

Dad to Ryan (Forever 16 - MPS IIIA), Brayden (15 - MPSIIIA), Bryce (7) and Brooklyn (5).  Carl works as an Electrical Engineering Manager for Burns Engineering in Philadelphia, PA.  Carl went to Villanova University where he majored in Electrical Engineering and played on the Wildcats Baseball team.  He has raised over $1M for Sanfilippo Syndrome through various fundraisers throughout the years.  Carl summitted Mt. Kilimanjaro in 2012, along with Mt. Rainier (2016) and Pico de Orizaba in Mexico (2018), all as fundraisers.  In additional to the National MPS Society, Carl is also a board member of the Team Sanfilippo Foundation (founding) and Naamans Little League in Wilmington, DE.

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.
 

My name is Marielle Marinoff. I am a mom of three amazing kids Ethan, Aiden and Emma. My middle child, Aiden was diagnosed with Hunter Syndrome at the age of 18 months old. I have made it a personal mission of mine to raise awareness for Aiden’s rare disease, and funds for research and development of improved treatments for Hunter Syndrome with special interest in central nervous system and orthopedic manifestations of the disease. My background is in Journalism and Media with an early career as a T.V. News Anchor, Reporter and Producer. I started out giving a voice to concerning issues, noteworthy causes or events and public interest stories affecting society. I now utilize those skills to share Aiden’s battle and our family’s plight with the public. 

Heather Mazzotta, RN is a Senior Patient Education Liaison (PEL), Rare Disease at Sanofi. She has been a nurse for 30 years and a PEL for almost 7 years. Heather’s territory covers South Jersey and half of the state of Pennsylvania, including Philadelphia.

David W Molter, MD, is a Professor of Otolaryngology-Head and Neck Surgery at Washington University School of Medicine at St. Louis Children's Hospital, MO, USA

His primary research interests include applications of biomedical engineering and computer science. Clinical interests include airway management and reconstruction, management of patients with complex medical needs, velopharyngeal imaging and reconstruction, aerodigestive care, cleft palate and craniofacial concerns, pediatric sleep apnea, management of ear, nose, and throat issues in mucopolysaccharidosis patients, hearing disorders, and juvenile laryngeal papilloma.  

Dr. Molter graduated from medical school in 1988 and completed his residency in Otolaryngology in 1994, both at Duke University School of Medicine in Durham, NC. He then underwent a Pediatric Otolaryngology fellowship at Cincinnati Children's Hospital and joined the faculty at the University of Maryland, where he taught for five years.  

In 2000, he moved to the Department of Otolaryngology at the Washington University School of Medicine. He is currently a Professor in the Division of Pediatric Otolaryngology at St. Louis Children's Hospital. He is board-certified in Otolaryngology-Head and Neck Surgery, and in Medical Informatics. He has been listed in Best Doctors yearly since 2007.  

Dr. Molter's publications are primarily related to cleft and craniofacial concerns, clinical MPS management, and the pediatric airway.

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 is the Director for the recently created Joseph Muenzer MPS Research and Treatment Center at the University of North Carolina at Chapel Hill. He has been the chairperson for the North Carolina Newborn Screening Advisory Committee for >28 years.

Dr. Muenzer is involved in the diagnosis, management, and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses (MPS) 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 for IV enzyme replacement clinical trials (ERT) for both MPS I and MPS II resulting in FDA approval. His recent clinical research has been focused on the development of new treatments for the brain disease in MPS. He has been the principal investigator (PI) for >20 MPS clinical trials/observational studies.  Dr. Muenzer is currently the PI for a Phase I/II and Phase II/III intrathecal enzyme replacement clinical trials for MPS II, 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. Laura Pisani, Senior Medical Director in Global Clinical Development at REGENXBIO, is a passionate rare disease expert and advocate, bringing her clinical and academic background to clinical development. Laura received her BS in Medical Biotechnology, her MD from the Federico II University, Naples, Italy, where she was first exposed to the world of rare diseases and clinical trials by working in Niemann-Pick C disease and MBA from Fayetteville State University, North Carolina. She went on to residency training in Pediatrics at Northwell Health, followed by fellowship training in Medical Genetics at the Icahn School of Medicine at Mount Sinai, both in New York. After working in Columbia University as a metabolic geneticist, she moved back to Northwell Health, where she successfully opened and directed a new New York state inherited metabolic disorder newborn screening center. She continued her commitment to rare diseases in her industry work, first at Ultragenyx, then finally working on gene therapy at REGENXBIO, to further her commitment to help bring novel therapeutics to children and adults with rare disorders. She is an avid long-distance runner, travel and languages enthusiast and big sci-fi and fantasy fan, who can be spotted on a weekend at the start line of a marathon, as well as at a Comic Con, cosplaying with her daughters Freya and Arwen!

Mark S. Sands, Ph.D. is a Professor in the Departments of Medicine and Genetics at Washington University School of Medicine in St. Louis. Dr. Sands received his Ph.D. in Molecular Pharmacology from the State University of New York at Stony Brook in 1990. He was a post-doctoral fellow at The Jackson Laboratory (Bar Harbor, ME) where he became interested in Lysosomal Storage Diseases. He then performed a short post-doctoral fellowship at the University of Pennsylvania School of Veterinary Medicine before joining the faculty at Washington University School of Medicine in 1994. Since then Dr. Sands has run an independent research laboratory with the goals of better understanding the underlying pathogenesis and developing effective therapies for inherited childhood diseases; specifically, lysosomal storage diseases. A major focus of his group has been to determine the safety and efficacy of enzyme replacement therapy, lentiviral-mediated hematopoietic stem cell-directed gene therapy, and adeno-associated viral gene therapy.

Dr. Sands performed most of the early pre-clinical experiments leading to the ultimate approval of enzyme replacement therapy for MPSVII. In 1994, Dr. Sands was the recipient of the first post-doctoral fellowship offered by the MPS Society.

Lisa P. Todd lives in Albuquerque, NM, with her husband, Jerry, and their three sons – Jack (MPS II), Jake, and Jaden. Lisa supports the Society by serving as Chair for the Board of Directors and serving on the Governance Committee.

Lisa is a CPA and specializes in not-for-profit entities. Through her professional role, she provides training to many types of non-profits on a variety of governance and financial issues. Lisa has been a member of the Society since Jack was first diagnosed with MPS in June 2011 and has been a board member since January 2012.

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.  

Navigating through Medicaid & SSI can be challenging for many MPS adults, parents and legal caregivers.  Not knowing where to start or what benefits one may qualify for at times can seem very daunting and stressful. I have been working at the Social Security Administration for the past 14 years.  In doing so, this requires me to provide answers and education to those navigating through the system on a daily basis.  My discussion will address basic steps one should take to start the process as well as the possible benefits that are available.  I will also be discussing the different programs offered to empower those individuals as they embark on this journey.  I will then spend time doing a Q & A to answer any specific questions from the audience.