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Welcome to the Annual Australian Niemann-Pick Disease Conference 🌟 Join us at the Florey Institute of Neuroscience and Mental Health in Melbourne, where patients, clinicians, and researchers come together to combat Niemann-Pick disease type C (NP-C) and Acid Sphingomyelinase Deficiency (ASMD). ✔️Keynote Speakers & Panels: Hear from leading experts and advocates, as they share insights on the latest clinical trials and research advancements. ✔️Research & Clinical Updates: Discover the most recent developments in NP-C research, from gene therapy to novel drug treatments. ✔️Networking Opportunities: Connect with peers, share experiences, and foster collaborations within the NP-C community. ✔️Community Engagement: Listen to the voices of those living with NP-C, their families, and caregivers, ensuring their perspectives are heard and valued. Don’t miss out on this unique opportunity to learn, connect, and support one another in the fight against Niemann-Pick disease. Together, we can make a difference! 💪 Subscribe to our channel for more updates and watch the full conference sessions. #NPConf #NiemannPickOz #NPCaustralia #NiemannPickDisease #Research #Community #Hope

Together for Niemann-Pick: Advocacy, Care & Community | Mandy Whitechurch & Deanna Carpino – ANPDF Conference 2025 In this heartfelt and inspiring session, Mandy Whitechurch (Founder & President) and Deanna Carpino (General Manager) of the Australian NPC Disease Foundation (ANPDF) share a year-in-review update on the Foundation’s work and impact. Their presentation highlights key achievements in advocacy, research partnerships, family support, and national initiatives—including progress on the Australian clinical guidelines, NDIS pathway project, and support for newly diagnosed families. They also take time to honour loved ones lost and reflect on the strength of the NPC community across Australia. Delivered on Day 1 of the 2025 Australian Niemann-Pick Conference, this session celebrates the power of community-driven leadership and the enduring spirit of families impacted by NPC. 🧡 Learn more or get involved: www.npcd.org.au #NiemannPick #NPC #RareDiseaseAdvocacy #ANPDF #CommunityLeadership #DeannaCarpino #MandyWhitechurch #Conference2025 #ChildhoodDementia #FamilySupport

A New Standard of Care for NPC in Australia | Ellie Van Velsen – ANPDF Conference 2025 In this landmark presentation, Ellie Van Velsen introduces Australia’s first consensus-based national standard of care for Niemann-Pick Disease Type C (NPC)—a transformative step forward for the diagnosis, management, and support of people living with this rare condition. Ellie outlines the rigorous, community-informed process led by the Australian NPC Disease Foundation, which brought together clinicians, allied health professionals, researchers, and families to define a care framework tailored to the Australian healthcare system and lived experience. The presentation highlights the importance of carer inclusion, early recognition, and multidisciplinary collaboration, with the goal of improving quality of life and reducing diagnostic delays. Delivered on Day 1 of the 2025 Australian Niemann-Pick Conference, this session marks a critical milestone in the care landscape for NPC across Australia. 📘 Future Access to the guidelines: www.npcd.org.au/guidelines 🧡 Learn more about ANPDF: www.npcd.org.au #NiemannPick #NPC #StandardOfCare #RareDisease #EllieVanVelsen #ClinicalGuidelines #ANPDF #Conference2025 #ChildhoodDementia #PatientCentredCare

NPC at the Crossroads: Progress, Challenges & New Horizons | Prof. Marc Patterson – ANPDF Conference 2025 In this powerful keynote, Professor Marc C. Patterson, internationally renowned expert in paediatric neurology and Niemann-Pick Disease Type C (NPC), reflects on decades of progress in understanding and treating this complex condition. Prof. Patterson shares a global perspective on the scientific, clinical, and regulatory milestones that have shaped the NPC landscape—from gene discovery to disease-modifying therapies like miglustat, arimoclomol, and N-acetyl-L-leucine. He also highlights the urgent challenges still ahead, including the need for early diagnosis, meaningful outcome measures, and equitable access to treatment. Delivered on Day 1 of the 2025 Australian Niemann-Pick Conference, this keynote sets the tone for a future driven by collaboration, advocacy, and innovation. 🎓 Prof. Patterson is Chief Medical Officer at IntraBio and former Professor of Neurology, Paediatrics, and Medical Genetics at the Mayo Clinic. 🧡 Learn more about the Australian NPC Disease Foundation: www.npcd.org.au #NiemannPick #NPC #MarcPatterson #RareDisease #Keynote #ClinicalTrials #GlobalCollaboration #ANPDF #Conference2025 #ChildhoodDementia

Drug Repurposing & Brain Delivery in Childhood Dementia | Dr Juliana Chaves – ANPDF Conference 2025 In this innovative and research-focused session, Dr Juliana Chaves from QIMR Berghofer presents cutting-edge work using patient-derived cell models to investigate treatments for childhood and ageing dementias, including Niemann-Pick Disease Type C (NPC). Dr Chaves demonstrates how induced pluripotent stem cells (iPSCs) and blood-brain barrier models are used to explore drug repurposing opportunities and improve therapeutic delivery to the brain. Her work not only advances scientific understanding but also holds promise for accelerating treatment options for families facing neurodegenerative conditions with limited current therapies. Presented on Day 1 of the 2025 Australian Niemann-Pick Conference, this session offers hope through science and highlights the value of collaboration across research and patient communities. 🧠 Learn more about the Australian NPC Disease Foundation: www.npcd.org.au #NiemannPick #NPC #ChildhoodDementia #JulianaChaves #iPSCModels #DrugRepurposing #BrainResearch #ANPDF #Conference2025 #RareDiseaseResearch

Eddie’s Story: Love, Loss, and Palliative Care | Keynote by Ali Malone – ANPDF Conference 2025 In this deeply moving keynote, Ali Malone shares her family's personal journey through life with her son Eddie, who was diagnosed with Niemann-Pick Disease Type C and later Acute Lymphoblastic Leukaemia. From the earliest signs and diagnostic challenges through years of treatment and palliative care, Ali’s presentation honours Eddie’s life, spirit, and the love that defined their path. With honesty and grace, Ali explores what it means to live, love, and parent through terminal illness. Her talk touches on navigating hospitals, advocating for family-centred care, balancing the needs of siblings, and ultimately, finding meaning in grief and memory-making. Ali also reflects on life beyond loss—how her family honours Eddie’s legacy, continues to support the Niemann-Pick community, and offers insights for health professionals working in paediatric palliative care. Presented on Day 2 of the 2025 Australian Niemann-Pick Conference, held 12–13 June at The Florey Institute in Melbourne, Australia. 🧡 Learn more about the Australian NPC Disease Foundation: www.npcd.org.au #NPC #RareDisease #ChildhoodDementia #PalliativeCare #GriefSupport #EddiesStory #AliMalone #ANPDF #NiemannPick #Conference2025

Emerging Therapies for Niemann-Pick Type C | Dr Michael Tchan – ANPDF Conference 2025 In this informative and forward-looking session, Dr Michael Tchan provides an expert overview of emerging therapies and clinical research for Niemann-Pick Disease Type C (NPC). As a leading clinical geneticist, Dr Tchan explains the science behind promising treatments—such as N-acetyl-L-leucine, cyclodextrin, and arimoclomol—and what recent trial results could mean for future care pathways. With a focus on clinical translation, he also discusses the practical and regulatory considerations involved in making these therapies accessible to patients in Australia. Delivered on Day 2 of the 2025 Australian Niemann-Pick Conference, this session highlights progress in NPC research and treatment development, offering hope and clarity to families, clinicians, and advocates alike. 🎓 Dr Tchan is Head of Genetic Medicine at Westmead Hospital and Clinical Associate Professor at the University of Sydney. 🧡 Learn more about the Australian NPC Disease Foundation: www.anpdf.org.au #NiemannPick #RareDisease #NPC #ClinicalTrials #EmergingTherapies #DrMichaelTchan #GeneticMedicine #ANPDF #Conference2025 #ChildhoodDementia

The Role of Genetic Counsellors in Niemann-Pick Diagnosis | Lisette Curnow – ANPDF Conference 2025 In this thoughtful and practical session, Lisette Curnow, Senior Genetic Counsellor at Victorian Clinical Genetics Services, explores the vital role of genetic counsellors in the diagnosis and care of individuals with Niemann-Pick Disease Type C (NPC). Lisette shares insights into the genetics of NPC, the impact of diagnosis on families, and how counsellors can support families through complex decisions and emotional transitions. She also highlights the disparities in access to gold-standard care and the importance of advocacy in improving equity and awareness across clinical services. Presented on Day 2 of the 2025 Australian Niemann-Pick Conference, this session is essential viewing for families, clinicians, and support professionals navigating rare disease pathways. 🧬 Learn more about the Australian NPC Disease Foundation: www.npcd.org.au #GeneticCounselling #NiemannPick #NPC #RareDisease #FamilySupport #LisetteCurnow #ANPDF #Conference2025 #ChildhoodDementia