Practice Point®: Rare Diseases

In these podcasts, we dive deep into the world of rare diseases, where every story is unique and every diagnosis a challenge. The episodes highlight the personal journeys of patients and medical professionals as they navigate the complexities of rare conditions. Each episode features expert insights on cutting-edge research, emerging treatments, and the social and emotional aspects of living with a rare disease. These podcasts are your guide to understanding and advocating for those affected by these often misunderstood conditions.

Practice Point®: Rare Diseases is a education podcast hosted by Practice Point Communications, with 37 episodes on record and a Required Pod Score of 80. PitchCentric scores this show on Booking Probability, Listen Score, and live audience signals refreshed every 24 hours.

Practice Point Communications hosts Practice Point®: Rare Diseases, a education show with 37 episodes published.

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  Episode #37

  Episode 37 - Part 4 - Applying the Evidence: A Case-Based Approach to Adult HLH Management

  Jul 23, 202629 min

  Using a realistic patient case, this final episode demonstrates how expert clinicians evaluate, diagnose, and manage a patient with suspected adult HLH in real time. Faculty discuss the interpretation of evolving clinical findings, biomarkers, and imaging, while highlighting common diagnostic pitfalls, treatment escalation strategies, and the importance of identifying the underlying trigger. The case illustrates how multidisciplinary decision-making and early intervention can improve outcomes in this complex and rapidly evolving syndrome. Launch/Release Date: July 23, 2026 Activity Expiration Date: June 30, 2027 Faculty Sarah Nikiforow, MD, PhD Assistant Professor, Stem Cell Transplantation Medical Director, DFCI Cell Manipulation Core Facility Technical Director, DFCI Immune Effector Cell Therapy Program Dana-Farber Cancer Institute Daniella Schwartz, MD Assistant Professor Division of Rheumatology and Clinical Immunology Departments of Medicine and Immunology Co-Director, Autoinflammatory Center of Excellence Co-Director, Pittsburgh Immunogenetics Discovery Center University of Pittsburgh Medical Center This podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided in this link prior to listening to this podcast.

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  Episode #36

  Episode 36 - Part 3 - Managing Adult HLH: Trigger-Based Treatment and Emerging Therapeutic Strategies

  Jul 23, 202620 min

  Successful management of adult HLH requires simultaneous control of hyperinflammation and identification of the underlying trigger. In this episode, faculty review practical treatment approaches, including corticosteroids, targeted immunomodulatory therapies, and selective use of etoposide-based regimens, while highlighting the growing role of pathway-directed therapies. The discussion emphasizes multidisciplinary care, ongoing reassessment, and individualized treatment decisions based on disease biology and clinical response. Launch/Release Date: July 23, 2026 Activity Expiration Date: June 30, 2027 Faculty Sarah Nikiforow, MD, PhD Assistant Professor, Stem Cell Transplantation Medical Director, DFCI Cell Manipulation Core Facility Technical Director, DFCI Immune Effector Cell Therapy Program Dana-Farber Cancer Institute Daniella Schwartz, MD Assistant Professor Division of Rheumatology and Clinical Immunology Departments of Medicine and Immunology Co-Director, Autoinflammatory Center of Excellence Co-Director, Pittsburgh Immunogenetics Discovery Center University of Pittsburgh Medical Center This podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided in this link prior to listening to this podcast.

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  Episode #35

  Episode 35 - Part 2 - Recognizing Adult HLH Earlier: Clinical Clues and Biomarkers That Matter

  Jul 23, 202641 min

  Early recognition is critical to improving outcomes in adult HLH. This episode explores the clinical features, common triggers, and laboratory abnormalities that should raise suspicion for HLH, while reviewing the strengths and limitations of current diagnostic tools, including the HLH-2004 criteria, HScore, and emerging biomarker strategies. Faculty also discuss how trends in ferritin and immune biomarkers can support earlier diagnosis and more informed risk stratification. Launch/Release Date: July 23, 2026 Activity Expiration Date: June 30, 2027 Faculty Sarah Nikiforow, MD, PhD Assistant Professor, Stem Cell Transplantation Medical Director, DFCI Cell Manipulation Core Facility Technical Director, DFCI Immune Effector Cell Therapy Program Dana-Farber Cancer Institute Daniella Schwartz, MD Assistant Professor Division of Rheumatology and Clinical Immunology Departments of Medicine and Immunology Co-Director, Autoinflammatory Center of Excellence Co-Director, Pittsburgh Immunogenetics Discovery Center University of Pittsburgh Medical Center This podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided in this link prior to listening to this podcast.

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  Episode #34

  Episode 34 - Part 1 - Understanding Adult HLH: Why Early Recognition Matters

  Jul 23, 202613 min

  Adult hemophagocytic lymphohistiocytosis (HLH) is a rapidly progressive hyperinflammatory syndrome that often presents with nonspecific features, making early diagnosis challenging. In this introductory episode, expert faculty explain the underlying immunobiology of adult HLH, distinguish primary from secondary disease, and explore why HLH should be viewed as a syndrome rather than a single disease entity. The discussion establishes the clinical framework needed to recognize patients at risk and prepares learners for the practical diagnostic and management strategies covered throughout the series. Launch/Release Date: July 23, 2026 Activity Expiration Date: June 30, 2027 Faculty Sarah Nikiforow, MD, PhD Assistant Professor, Stem Cell Transplantation Medical Director, DFCI Cell Manipulation Core Facility Technical Director, DFCI Immune Effector Cell Therapy Program Dana-Farber Cancer Institute Daniella Schwartz, MD Assistant Professor Division of Rheumatology and Clinical Immunology Departments of Medicine and Immunology Co-Director, Autoinflammatory Center of Excellence Co-Director, Pittsburgh Immunogenetics Discovery Center University of Pittsburgh Medical Center This podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided in this link prior to listening to this podcast.

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  Episode #33

  Episode 33 - Advanced Therapies and the Future of Uncontrolled Gout

  Jun 12, 202626 min

  Managing uncontrolled gout isn’t always straightforward—especially when flares persist, comorbidities complicate care, or standard therapies fall short. As our understanding of gout expands beyond just elevated uric acid, clinicians are being asked to think differently, integrating immune pathways, real-world evidence, and emerging treatments into everyday practice. From Refractory to Resolved: Rethinking Uncontrolled Gout in 2026, this CME-accredited podcast explores how to approach these complex cases with greater clarity and confidence. Featuring expert insights and the latest clinical evidence, each episode dives into practical strategies across the continuum of gout care. Listeners will hear discussions on advances in uricase-based therapies, selective URAT1 inhibitors, and inflammation-targeted treatments, along with key considerations around safety, sequencing, and collaborative care. Through real-world examples and focused conversations, this series equips clinicians with actionable tools to personalize treatment, address therapeutic challenges, and improve long-term outcomes for patients living with uncontrolled gout. Launch Date/Release: June 12, 2026 Expiration Date: May 31, 2027 FACULTY Robert Terkeltaub, MD Professor Emeritus of Medicine, University of California, San Diego This podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided in this link prior to listening to this podcast.

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