Conference Speakers
Josh Baker, DO
Attending Physician, Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago
Dr. Josh Baker is the Director of Inborn Errors of Metabolism in the Edwards Family Division of Genetics & Rare Diseases at Lurie Children’s Hospital. He specializes in the diagnosis, treatment, and management of IEMs, including lysosomal storage disorders. He is also the Director of Newborn Screening at Lurie Children’s Hospital and Chair of the Illinois Universal Newborn Screening Advisory Committee. His current work focuses on the diagnosis and management of Acid sphingomyelinase deficiency (ASMD) through newborn screening.
Shaun Bolton, Chief Operating Office
INPDR
Shaun Bolton is Chief Operating Officer of the International Niemann-Pick Disease Registry (INPDR), where he leads the global delivery and strategic development of the largest international registry for Niemann-Pick disease. His work centres on unlocking the power of real-world data to accelerate research, inform care, and improve outcomes for patients and families worldwide.
With a background in clinical research within the National Health Service, Shaun has developed extensive expertise in registry operations, data quality, and multi-stakeholder collaboration across academia, industry, and patient communities. He is particularly focused on ensuring that rare disease data initiatives are both scientifically robust and meaningfully shaped by the needs and experiences of patients.
Shaun holds a Bachelor’s degree in Human Psychology from Aston University and a Master’s degree in Genomics from the University of Birmingham.
Elizabeth Berry-Kravis, MD, PhD
Rush University Medical Center
Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics and Neurological Sciences at Rush University Medical Center in Chicago. She established the Fragile X Clinic and Research Program in 1991, through which she has provided care to over 800 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and has been a leader in translational research in FXS for 25 years, including development of clinical outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, for which she has been PI or Co-PI of 29 trials, both industry and investigator sponsored.
Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded clinical and translational work to other neurodevelopmental disorders in addition to FXS, including autism spectrum disorders and single gene models of ASD, including Phelan McDermid syndrome, Rett syndrome, and Angelman syndrome. She also is working on translational research in rare neurogenetic disorders including Niemann-Pick type C, Batten disease, pantothenate kinase-associated neurodegeneration, creatine transporter deficiency and N-of-1 trials for ultra-rare diseases.
She is on Advisory and/or Review Boards for the FRAXA Research Foundation, National Fragile X Foundation, Phelan McDermid Syndrome Foundation, International Rett Syndrome Foundation, Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, Combined Brain, N=1 Collaborative, n-Lorem Foundation and the GATHER Foundation. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology, John Merck Fund Sparkplug Award, the FRAXA Ingenuity Award, the FAST Innovation Award, CureSHANK 2025 PMS Investigator of the Year Award and the inaugural Martha Bridge Denckla Award from the Child Neurology Society for work in cognitive disorders of children.
She has been working on translation of targeted treatment with adrabetadex in NPC for 13 years, was Co-PI of the phase 2/3 adrabetadex trial, PI of a multi-patient multi-site expanded access program that has provided treatment to over 90 patients, site PI for the Orphazyme arimoclomol EAP and has been a co-Investigator on multiple biomarker studies in NPC.
Erin Bradshaw, EVP
Development and Strategy, Patient Advocate Foundation
Erin Bradshaw is Executive Vice President, Development & Strategy at Patient Advocate Foundation (PAF), where she leads fundraising and strategic partnerships that sustain and expand high impact national case management services. With 28 years of experience – including her early career as a case manager and over two decades in operational leadership – Erin is a trusted speaker on navigating the complexities of the U.S. healthcare and health insurance systems. She draws on both lived and professional experience to engage audiences, elevate the patient voice, and translate real world challenges such as coverage denials, affordability barriers, and system confusion into actionable, patient centered insights.
Krista Casazza, PhD
Scientific Consultant, INDORE
Krista Casazza is a scientific consultant for the International Niemann-Pick Disease Registry (INPDR) and former Scientific Director of the Critical Path for Lysosomal Diseases Consortium. She has a multidisciplinary background with training in nutritional biochemistry, physiology, and metabolism. Her work has focused on advancing rare disease research, fostering collaborative scientific initiatives, and supporting the development of patient-centered strategies for lysosomal disorders.
Sandy Cowie
President, INPDA
ASMD
Sandy Cowie is the President of the International Niemann-Pick Disease Alliance and Vice Chair of the board of directors of Niemann Pick Canada. Sandy has been engaged in advocacy for Niemann-Pick diseases for more than 20 years. Sandy is an adult with ASMD Niemann-Pick disease type B which was diagnosed at the age of 2. Sandy worked for more that 30 years as an occupational therapist and now directs her energy and time to improving the road ahead for those living with Niemann-Pick diseases.
Cristin Davidson, PhD
Staff Scientist at NICHD, Porter Laboratory
Cristin Davidson is a staff scientist in the laboratory of Dr. Forbes D. Porter at NICHD. Her research focuses on evaluation of potential treatments for Niemann-Pick type C disease using animal models. Currently, Dr. Davidson is leading preclinical research efforts at NICHD to move gene therapy for NPC1 towards the clinic. Her prior work also played a pivotal role in translation of 2-hydroxypropyl-beta-cyclodextrin to a phase 1 clinical trial for Adrabetadex.
Geoff Fenich, PharmD
Manager of Patient Support, Curant Health
Geoff Fenich, PharmD, serves as Manager of Patient Support at Curant Health, where he focuses on driving better outcomes by strengthening how patients, pharmacists, and providers connect around care. His work is centered on advancing medication therapy through clear, consistent communication ensuring patients stay engaged, informed, and supported throughout treatment.
He brings a strong emphasis on integrating the pharmacist’s role into the broader care team, working closely with providers to align on therapy plans and remove barriers that can impact access or adherence. Geoff is passionate about creating a more coordinated, patient-centered experience that translates clinical expertise into meaningful, real-world outcomes.
Josh Fine, COO
Cyclo Therapeutics
Joshua M. Fine is the Chief Operating Officer of Rafael Holdings Inc. and a dedicated advocate for advancing life-changing treatments for individuals and families impacted by rare diseases. He focuses his daily work on steering critical corporate strategy, securing vital funding, and managing complex logistics to bring breakthrough therapies safely from clinical trials through to regulatory approval and launch.
Throughout his career, Joshua has been a driving force behind major milestones in rare disease drug development. As the former Chief Financial Officer of Cyclo Therapeutics, he successfully raised significant institutional capital and led key strategic mergers to support the global Phase III clinical program of their lead asset, Trappsol Cyclo -a potential treatment for Niemann Pick Disease Type C. His previous work at Icagen, Inc. also included securing over $300 million in landmark clinical collaborations and development milestones to push critical research forward. Joshua’s mission is deeply rooted in supporting patients and families by removing operational hurdles and accelerating the pathway to drug approval.
Outside of his corporate work, Joshua’s greatest joy is his family. He is married and the proud father of three young children.
Chris Freitag, CMO
Azafaos
Dr Freitag obtained his medical degree from Kiel University, Germany. After several years in different hospital posts, he started his career in the pharmaceutical industry at Roche. After A few different roles in different clinical development, he started working fully in the rare disease area in 2018. He joined Azafaros in 2022 and has responsibility for the clinical development and medical management of the clinical programme.
Bevin Gray
Case Manager
Bevin Gray is a Licensed Social Worker and Case Manager with Sanofi CareConnect Personalized Support Services, specializing in rare disease patient support. She is dedicated to helping patients and families navigate their diagnostic and treatment journeys by resolving barriers to care and providing compassionate, personalized advocacy throughout their rare disease experience.
Dakota Hanson
Specialty Pharmacy Program Manager
Dakota has been working in specialty pharmacy supporting NPC patients since January 2025. She has been actively involved in patient advocacy initiatives through the National Niemann-Pick Disease Foundation and other rare disease organizations. As a President’s Club award recipient, Dakota has demonstrated a strong commitment to excellence and patient-centered support. She has experience supporting exclusive specialty products through both hub and hub-lite service models, as well as home infusion therapies, partnering with patients, caregivers, providers, and stakeholders to facilitate access to life-changing treatments.
Prior to her work in specialty pharmacy, Dakota supported preclinical-stage rare disease biotechnology startups, providing insight and support within the evolving rare disease landscape. Her diverse experience across early-stage innovation, patient advocacy, and specialty pharmacy enables her to effectively navigate complex access challenges and support the rare disease community.
Liz Heinze, RN
Mother of Tyler, Katie, and Faith, NPC
Liz is a dedicated advocate for children and families affected by Niemann-Pick disease. As the mother of three children diagnosed with Niemann-Pick disease type C, Liz’s personal journey inspired her deep commitment to supporting the rare disease community and advancing the mission of the National Niemann-Pick Disease Foundation (NNPDF).
Liz served on the NNPDF Board of Directors for seven years, where she worked alongside fellow board members, families, researchers, and clinicians to strengthen support programs, promote research, and raise awareness of Niemann-Pick disease. Her lived experience as a caregiver has given her a unique perspective and a steadfast passion for helping other families navigate the challenges of rare disease while advocating for hope and progress
Caroline Hastings, MD
Professor of Pediatrics, UCSF Benioff Children’s Hospital Oakland
Dr. Caroline Hastings is a Pediatric hematologist-oncologist and neuro-oncologist. At UCSF Benioff Children’s Hospital Oakland. She earned her medical degree from the University of California, Davis School of Medicine and completed a residency in pediatrics and a fellowship in pediatric hematology and oncology at Children’s Hospital Oakland. Dr. Hastings conducts clinical trials and provides care for children with tumors of the brain and spine, and children, adolescents and adults with lysosomal storage disorders inclusive of Niemann-Pick Type C disease (NPC) and gangliosidoses. She is involved in clinical trials to understand the natural history of the disease and for therapeutics that show promise for treating NPC. She serves on related advisory boards, including foundations dedicated to those affected by NPC and GM1/GM2.
Courtney Hopkin
Mom of Garrett, ASMD
Courtney is the CEO of the home and mom of three awesome humans. She is powered by coffee, sunshine, and unconditional love. She is the master of finding lost items and teaching college students monetary responsibilities. Her journey into the rare disease community began 15 years ago when her youngest son was diagnosed with ASMD. She’s been a conference attendee for over a decade.
Justin Hopkin, MD
NNPDF Scientific Advisory Board
Father of Garrett, ASMD
Justin Hopkin is on the scientific advisory board for the NNPDF and International Niemann-Pick Disease Registry. As an advocate, he works to support and empower the Niemann-Pick community. He is particularly interested in promoting collaboration between patients, industry and regulators with a focus on drug development, clinical trial design, patient-owned registries and newborn screening.
Harry Koujaian
Co-Vice President, INPDA
Father of Alec and Hayley, NPC
Harry Koujaian is the father of Alec and Hayley and has been an active advocate within the Niemann-Pick disease community since his children were diagnosed in 2011. Since then, he has worked tirelessly alongside patients, families, researchers, clinicians, industry partners, and advocacy organizations to raise awareness of Niemann-Pick disease and accelerate efforts toward effective treatments and, ultimately, a cure. Harry currently serves as Co-Vice President of the International Niemann-Pick Disease Alliance (INPDA), where he helps promote global collaboration among patient organizations and key stakeholders.
CJ Kovarik, PharmD
Director of Patient Success at Curant Health
CJ Kovarik, PharmD, is the Director of Patient Success at Curant Health, where he leads multidisciplinary teams focused on supporting patients and families through the complex specialty pharmacy journey. His work includes patient access, prior authorizations, clinical support, care coordination, and operational strategy for rare disease and specialty therapy programs.
CJ has experience helping build and scale patient support models that connect clinical expertise with real-world access needs. He is passionate about reducing barriers to therapy, improving communication across care teams, and ensuring patients and caregivers feel supported throughout treatment. In his role, he works closely with healthcare providers, pharmaceutical partners, and patient-facing teams to help improve the experience of patients living with rare and complex conditions.
Kelly Lee
Mother of Gracie, NPC
Primary caregiver and advocate. Lives in Texas with her husband, daughters Gracie (18, NPC) and Delaney (15), and dogs. She has served on the NNPDF Board of Directors since July 2024 and as an advisor for the Be Clear Family Toolkit Project. Kelly is passionate about strengthening collaboration, support, education, access to care, and engagement for Niemann-Pick families. She has a Bachelor of Science in Health Science from Clemson University and Nursing from The Medical University of South Carolina. Kelly is a former Pediatric Cardiac ICU nurse in Charleston, SC and Fertility Nurse Coordinator in Northern VA. She is a dog rescue foster and is actively involved in supporting multiple NPC research fundraising campaigns.
Andrew Lieberman, MD, PhD
Professor, University of Michigan Medical School, NNPDF Scientific Advisory Board Chair
Dr. Andrew Lieberman is the Gerald D. Abrams Professor in the Department of Pathology and Director of Neuropathology at the University of Michigan. Dr. Lieberman received his BS from Duke University and his MD and PhD from the University of Maryland Medical School. He completed residency training in Anatomic Pathology and fellowship training in Neuropathology at the University of Pennsylvania. He trained as a research fellow with Dr. Kenneth Fischbeck at the Neurogenetics Branch NINDS, NIH, and then joined the University of Michigan Medical School faculty in 2001. He serves as Director of Neuropathology at the University of Michigan Medical Center and is Co-Director of the Michigan Protein Folding Diseases Initiative. Dr. Lieberman’s research has focused on the mechanism of neurodegeneration in inherited neurological disorders. His laboratory uses cell culture and mouse models to explore the pathogenesis of Kennedy’s disease, a polyglutamine expansion disorder, and Niemann-Pick C, a lysosomal storage disease resulting from impaired lipid trafficking.
Sarah Nabors, MS, CGC
Sanofi
Sarah Nabors is a Patient Education Liaison with Sanofi. A certified genetic counselor by training, Sarah has been providing education and support for Rare Disease patients and their families since 2016.
Forbes D. Porter, MD, PhD
Senior Investigator, NICHD, NIH
Dr. Forbes D. Porter is a Senior Investigator in the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, NIH). He is also the Director of the NICHD Molecular Genomics Core and an Associate Scientific Director for Translational Science. He previously served as a Program Head and was the Clinical Director for NICHD from 2010 until 2022.
Dr. Porter earned his MD and PhD from Washington University in St. Louis and subsequently trained in Pediatrics and Clinical Genetics at St. Louis Children’s Hospital. Dr. Porter formed his own basic and clinical research groups at the NIH starting in 1996. Dr. Porter’s research has been primarily focused on rare genetic disorders of cholesterol homeostasis, specifically Smith-Lemli-Opitz syndrome (SLOS) and Niemann-Pick disease, type C (NPC). His research team’s goal is to combine both basic and clinical science to understand the pathological processes contributing to these disorders and to develop and test therapeutic interventions.
Barbara Lazarus
Mother of Daniel and David, NPC
Barbara Lazarus is the mother of two sons, Daniel and David, who are living with adult-onset Niemann-Pick (NPC). She resides in Connecticut with her husband, Gary, and together they serve as full-time caregivers for their sons. A retired Speech-Language Pathologist, she has worked across both pediatric and adult populations throughout her career. Drawing on her family’s lived experience, she has partnered with the National Niemann-Pick Disease Foundation (NNPDF) and industry stakeholders to advocate before the FDA and other agencies for improved treatment options and care for individuals affected by NPC.
Trish Reiter
Mother of Allison, ASMD
Trish is Allison’s mom and caregiver. Allison was diagnosed with Acid Sphingomyelinase Deficiency (ASMD) at just two years old and is now 37 years old. Over the years, Trish has gained firsthand experience supporting Allison as they navigate the challenges of a rare disease. Trish and Allison live in Fort Myers, Florida, where they continue to face the journey together with strength, perseverance, and hope.
Krystal Samuelson
Mother of Willow, NPC
Krystal Samuelson is a dedicated advocate for children and families affected by Niemann-Pick disease. As the mother of Willow, who lived with NPC, Krystal has become passionate about raising awareness, supporting research, and helping families navigate the complex medical and emotional journey that accompanies rare disease. Drawing from her family’s experience, Krystal works to honor Willow’s legacy through advocacy, education, and community involvement. Outside of her advocacy work, Krystal is a wife, mother, and leader in HR and Operations at a digital marketing by company. She is honored to share Willow’s story and the lessons her daughter continues to teach about love, resilience, and living fully.
Anne OConnor Smith
ASMD
Anne is an ASMD patient receiving enzyme since her clinical trial started in May 2013. She traveled from Florida to New York City every two weeks for 3.5 years to receive enzyme replacement therapy. Since then, she has been able to receive infusions at home.
Anne was a former NNPDF Board member for 6 years. She enjoyed working on the finance committee and eventually serving as the Acting Treasurer near the end of her volunteer term. Anne is married to Mike Smith who is finishing his 6 year volunteer position as NNPDF Treasurer.
Anne and Mike are both triathletes who enjoy summer RV travel to the cooler New England area and into Canada in between infusions.
Jacob Ruesch, CPhT
Director of Complex Therapy Operations
Jacob Ruesch spent over 20 years in pharmacy with 14 years in specialty and rare disease. 10 years with Orsini helping to manage rare disease therapies.
Taylor Sabky
NNPDF Board Chair
Mother of Purnell ASMD
When Purnell was diagnosed in 2017, my family was embraced by the Niemann-Pick Disease community. I am honored to give back as a board member, and continue his legacy of bringing people together, raising awareness, and advancing research and treatment development. I firmly believe in the importance of solidarity and in the power of community; and I will continue to work hard to promote positive outcomes for all forms of Niemann-Pick Disease. I’ve learned the importance of sharing your story and hope to elevate the voice of those coping with any NPD diagnosis, especially those navigating ASMD (Type A or A/B). I hope to incorporate all the lessons I learned with Purnell, and I am eager to continue learning new skills to help meet the needs of the NPD community.
Carina Satin
INPDA Vice President
Carina de Paula Satin Pires is a Brazilian attorney specializing in Health Law, founder of Carina de Paula Satin Sociedade Individual de Advocacia, based in Campinas, São Paulo. With extensive experience representing patients and families in disputes against health insurance operators, she is a recognized advocate for access to medical treatment, particularly for individuals living with rare diseases.
Carina serves as Co-Vice President of the International Niemann-Pick Disease Alliance (INPDA) and as Vice President of the Associação Niemann-Pick e Batten Brasil (ANPB), Brazil’s leading nonprofit dedicated to Niemann-Pick and Batten/NCL diseases. In her advocacy role, she works to bridge legal, scientific, and patient communities across borders, having participated in major international events including the 23rd WORLD Symposium in San Diego.
Her dual expertise in health law and rare disease advocacy positions her as a unique voice for patients navigating both legal and medical challenges.
Allie Stavrolakis
NNPDF Family Services Manager
Allie has more than 10 years of nonprofit experience designing events and programs that support individuals and families navigating life with a rare disease. Prior to joining NNPDF, Allie worked at the Cystic Fibrosis Foundation where she led virtual community events designed to foster peer support and advance patient and caregiver education. She is passionate about helping people find connection, support, and reliable resources throughout their journeys.
As Family Services Manager, Allie serves as a primary resource for individuals and families affected by Niemann-Pick disease, helping connect them with information, support services, and community resources. She is committed to listening to families’ experiences, amplifying their perspectives, and developing programs that address the evolving needs of the Niemann-Pick community.
Heather Teal, M.Ed.
NNPDF Executive Director
Heather brings extensive leadership experience across healthcare, public health, patient advocacy, and nonprofit sectors. Following her son’s autism diagnosis, she redirected her career toward Education and Health Promotion, shaping a career focused on integrative health, early intervention, community health, and patient advocacy.
Heather has held leadership roles across healthcare, nonprofit, and global advocacy sectors, including Executive Director of The Healing Net Foundation, Chief Programs and Operations Officer at the Global Patient Advocacy Coalition for Headache, Director of Programs and Advocacy with the American Migraine Foundation, and leadership positions with MaineHealth, one of the nation’s top integrated healthcare delivery networks. Her work also includes collaboration with the World Federation of Neurology and the World Health Organization on global neurology, advocacy, and public health initiatives.
Throughout her career, she has led initiatives focused on community health, patient engagement, advocacy, and organizational growth, with expertise in scaling mission-driven programs and building collaborative partnerships that improve health outcomes and access to care.
Heather continues to contribute as a patient advocacy author and through service on local boards and global committees.
Irene von Hennigs, PharmD
Irene von Hennigs, PharmD, is a Medical Affairs leader with more than 30 years of biopharma experience specializing in rare and ultra-rare disease. She currently serves as SVP, Global Medical Affairs at Beren Therapeutics, where she leads medical strategy for adrabetadex, an investigational therapy targeting infants and newborns with infantile-onset Niemann-Pick disease type C (I-NPC), a rare and life-threatening lysosomal storage disorder with significant unmet need.
Her career spans landmark roles at AbbVie, where she supported CREON® through its landmark FDA approval in 2009 for cystic fibrosis, and at Alexion, where she led Medical Affairs for eight years across SOLIRIS® and ULTOMIRIS® in ultra-rare hematologic, renal, and neurological diseases. At Amgen (2020–2024), she served as VP, US Medical Affairs for the Rare Disease Business Unit, overseeing a portfolio of first-in-class medicines including TEPEZZA®, KRYSTEXXA®, UPLIZNA®, PROCYSBI®, RAVICTI®, and ACTIMMUNE®.
Throughout her career, Dr. von Hennigs has led the build-out of medical affairs functions and integrated strategies spanning evidence generation, scientific communications, and stakeholder engagement. She is recognized for her strategic and entrepreneurial mindset, translating complex science into clear, actionable insights that support clinician understanding, regulatory and market access readiness, and long-term asset value in areas of high unmet need.
Dr. von Hennigs holds a PharmD from Mercer University in Atlanta, GA, completed her pharmacy practice residency at Johns Hopkins Hospital in Baltimore, MD, and earned a BA in Biology from Notre Dame de Namur University in Belmont, CA.