PODCAST

Rare and Orphan Diseases

ReachMD

science & medicine medicine

All Episodes

00:00:00

Treatment of a Broader Population of Patients With DMD

Rare and Orphan Diseases ·

2025/07/14

Host: Crystal Proud, MD Guest: Erika Finanger, MD, MS By completing this activity, learners will gain the skills and confidence to determine therapeutic candidacy and conduct appropriate assessments for patients with Duchenne Muscular Dystrophy (DMD) across the age spectrum, including older and non-ambulatory individuals. They will improve their ability to interpret and apply the latest clinical data to real-world scenarios and make informed decisions about treatment and

00:00:00

Transforming C3G Care: New Advances in Targeted...

Rare and Orphan Diseases ·

2025/06/20

Guest: Anuja Java, MD With the recent approval of iptacopan and promising data on pegcetacoplan emerging, targeted therapy is becoming a reality for patients with complement 3 glomerulopathy (C3G). Hear from Dr. Gates Colbert and Dr. Anuja Java as they dive into the details of newer treatments, key considerations for patient monitoring, and the role of precision medicine in patient care. Dr. Java is an Assistant Professor of Medicine in the Division of Nephrology at Washington

00:00:00

Identifying C3G: Key Diagnostic Considerations and...

Rare and Orphan Diseases ·

2025/06/20

Guest: Anuja Java, MD Complement 3 glomerulopathy (C3G) presents complex diagnostic hurdles due to its rarity, clinical heterogeneity, and lack of definitive biomarkers. Tune in to hear Dr. Gates Colbert and Dr. Anuja Java discuss the need for improved biomarker development, our evolving understanding of complement dysregulation, and the importance of multidisciplinary awareness in advancing timely and accurate diagnosis. Dr. Java is an Associate Professor of Medicine in the Division

00:00:00

Examining Key Factors in IgAN: The Role of B Cells...

Rare and Orphan Diseases ·

2025/06/18

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Jonathan Barratt, PhD New insights into B-cell dysregulation are reshaping our understanding of IgA nephropathy (IgAN), and the BAFF/APRIL pathway in particular is being studied for its role in driving immune complex formation, glomerular injury, and disease progression. Joining Dr. Charles Turck to discuss B-cell dysregulation and its potential impacts on the IgAN treatment landscape is Dr. Jonathan Barratt. Dr. Barratt is the Mayor

00:00:00

IgA Nephropathy Care: Ensuring Timely Detection and...

Rare and Orphan Diseases ·

2025/06/18

Host: Gates B. Colbert, MD Guest: Meghan Sise, MD Guest: Ellie Kelepouris, MD, FACP, FAHA Early detection of IgA nephropathy (IgAN) is often missed due to its subtle presentation, leading to delays in critical care. However, knowing the red-flag signs and symptoms to look out for can help improve timely diagnosis and intervention. Joining Dr. Gates Colbert to discuss practical strategies for identifying IgAN early are Drs. Meghan Sise and Ellie Kelepouris. Dr. Sise is the

00:00:00

Understanding IgAN: More Than a Benign Disease

Rare and Orphan Diseases ·

2025/06/18

Host: Brian P. McDonough, MD, FAAFP Guest: Suneel Udani, MD Over the past several decades, IgA nephropathy (IgAN) has gone from being regarded as relatively harmless to being recognized as a progressive, high-risk disease. With this new understanding, early diagnosis and strategic intervention are more critical than ever. Tune in as Dr. Suneel Udani, a nephrologist with Nephrology Associates of Northern Illinois, joins Dr. Brian McDonough to examine the key factors in detecting and

00:00:00

Empowering Patients with CIDP: Education, Support,...

Rare and Orphan Diseases ·

2025/06/13

Guest: Danielle Minetti Host: Ryan Quigley Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) presents unique challenges for newly diagnosed patients and their caregivers. Meeting patients where they are, identifying common misconceptions, and providing effective and individualized education can go a long way in creating an engaging management plan. Mr. Ryan Quigley sits down with Ms. Danielle Minetti to learn more about actionable approaches to support informed and

00:00:00

New Frontiers in CIDP Care: Exploring Approved and...

Rare and Orphan Diseases ·

2025/06/13

Guest: Chafic Karam, MD Host: Ryan Quigley Treatment options for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are rapidly advancing, with new approaches reshaping clinical decision-making. In this expert-led discussion, Mr. Ryan Quigley speaks with Dr. Chafic Karam, Professor of Clinical Neurology and Chief of the Neuromuscular Division at the University of Pennsylvania, about the latest FDA-approved therapies—including subcutaneous immunoglobulin and

00:00:00

Optimizing C3G Management: The Power of Lifestyle...

Rare and Orphan Diseases ·

2025/05/12

Guest: Richard Lafayette, MD, FACP For patients with C3 glomerulopathy (C3G), supportive care is a critical yet often underemphasized component of disease management. Join Dr. Richard Lafayette as he outlines key strategies to reduce risks, improve quality of life, and empower patients to engage actively in their long-term care. Dr. Lafayette is a Professor of Nephrology and the Director of the Glomerular Disease Center at Stanford University Medical Center in California.

00:00:00

Advancing CIDP Research: Targeted Therapies, AI...

Rare and Orphan Diseases ·

2025/04/23

Guest: Karissa Gable, MD From innovative diagnostic strategies to targeted immunotherapies, our approach to chronic inflammatory demyelinating polyneuropathy (CIDP) management is rapidly evolving. Dr. Karissa Gable, Assistant Professor of Neurology at Duke University Medical Center, breaks down the new developments that aim to improve outcomes through a deeper pathophysiological understanding of the disease and personalized strategies.

00:00:00

Optimizing Neuromuscular Disease Care: How to Assess...

Rare and Orphan Diseases ·

2025/04/22

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Jason Ackrivo, MD, MSCE Guest: Bethany Lussier, MD Respiratory decline in patients with neuromuscular diseases and mitochondrial myopathies can be challenging to identify, especially because its early signs may be subtle and vary from person to person. However, knowing how to evaluate a patient’s respiratory function is key to improving outcomes and quality of life. Joining Dr. Charles Turck to discuss this importance and provide

00:00:00

mIDH Gliomas Explained: Characteristics and...

Rare and Orphan Diseases ·

2025/04/05

Guest: Jennie Taylor, MD Defined by the production of 2-hydroxyglutarate, mutant isocitrate dehydrogenase (mIDH) gliomas are diffuse, slow-growing tumors. Managing these tumors requires personalized strategies that consider resectability, histology, and long-term treatment impacts. Dr. Jennie Taylor, Assistant Professor of Neurology and Neurological Surgery at the University of California San Francisco, explains the complexities behind this type of tumor and implications for patient

00:00:00

Vorasidenib and mIDH Gliomas: Reviewing the Efficacy...

Rare and Orphan Diseases ·

2025/04/05

Guest: Jennie Taylor, MD The FDA approval of vorasidenib marks a new era for mutant isocitrate dehydrogenase (mIDH) gliomas. Approved in 2024 for grade 2 tumors after surgery, it doubled progression-free survival in the INDIGO trial. Dr. Jennie Taylor, Associate Professor of Neurology and Neurological Surgery at the University of California San Francisco, dives into the data and explains what questions remain about long-term use and broader applications.

00:00:00

From Diagnosis to Treatment: Challenges in...

Rare and Orphan Diseases ·

2025/04/05

Guest: Lauren Schaff, MD Glioblastomas are fast, aggressive, and resistant to many standard therapies. Dr. Lauren Schaff, a neuro-oncologist at Memorial Sloan Kettering Cancer Center, explains how new molecular understandings and treatment avenues are paving the way for a more personalized, hopeful approach to care.

00:00:00

Optimizing TK2d Care Through a Multidisciplinary...

Rare and Orphan Diseases ·

2025/04/04

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Kaitlin Batley, MD Guest: Esra Caylan, MD Thymidine kinase 2 deficiency (TK2d) presents with a variability of symptoms, including respiratory, neurological, and ocular ones, making it difficult to diagnose. Because of this, a multidisciplinary care team that’s tailored to each patient’s needs is key to effectively identifying and treating this disease. Hear about the role of a multidisciplinary team and strategies for

00:00:00

Decoding CIDP: Pathogenesis, Diagnosis, and Clinical...

Rare and Orphan Diseases ·

2025/04/03

Guest: Hans Katzberg, MD Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a complex immune-mediated condition affecting the peripheral nervous system. Join Dr. Hans Katzberg, Professor of Medicine at the University of Toronto, as he explains the pathophysiology behind CIDP, risk factors in disease development, and diagnostic strategies.

00:00:00

Evolving Strategies in CIDP Care: Personalized...

Rare and Orphan Diseases ·

2025/04/01

Guest: Sami Khella, MD With personalized approaches, alternatives to steroids, and novel therapies like efgartigimod, the treatment landscape for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is continuing to evolve. Join Dr. Sami Khella as he shares expert insights on our available options. Dr. Khella is the Director of Clinical Electrophysiology and a Professor of Clinical Neurology at the University of Pennsylvania, and he spoke about this topic at the 2025

00:00:00

Understanding CIDP: A Roadmap to Diagnosis

Rare and Orphan Diseases ·

2025/04/01

Guest: Sami Khella, MD Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) can present in multiple ways, making diagnosis complex. Dr. Sami Khella joins the program to outline how we can distinguish CIDP from similar neurological disorders and explain how response to therapy can guide diagnosis. Dr. Khella is the Director of Clinical Electrophysiology and a Professor of Clinical Neurology at the University of Pennsylvania, and he spoke about this topic at the 2025 American

00:00:00

Respiratory Challenges in Neuromuscular Disorders: A...

Rare and Orphan Diseases ·

2025/02/20

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Jason Ackrivo, MD, MSCE Respiratory complications are fairly common in patients with neuromuscular disorders, and given their vast impacts on a patient’s prognosis and quality of life, it’s critical to proactively detect and monitor any signs of respiratory decline. To learn more about the symptoms, impacts, and diagnosis of respiratory complications in patients with neuromuscular disorders, Dr. Charles Turck speaks with Dr. Jason

00:00:00

Navigating Neuromuscular Diseases: CHEST Guidelines...

Rare and Orphan Diseases ·

2025/02/20

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Bimaje Akpa, MD Clinical practice guidelines from the American College of Chest Physicians provide recommendations for managing respiratory complications in patients with neuromuscular diseases, which can help inform our evaluation and treatment decisions. Joining Dr. Charles Turck to break down key insights from the CHEST guidelines and their impacts on clinical practice is Dr. Bimaje Akpa. Dr. Akpa is an Assistant Professor of

37 results

Rare and Orphan Diseases

All Episodes

Similar Podcasts

科学史评话最新专辑

科学史评话

Hablando con Científicos - Cienciaes.com

cienciaes.com

天方烨谈

基因频道

The Permaculture Podcast

Scott Mann

汪诘：科学有故事（主打）

科学有故事