Rare and Orphan Diseases

Guest: Divya Shankar, MD

A recent study investigated whether pulse-dose corticosteroids offer a benefit over lower doses in managing acute exacerbations of idiopathic pulmonary fibrosis (IPF). Join Dr. Divya Shankar as she explains the real-world data, variability in prescribing patterns, and outcomes observed in different levels of care. Divya Shankar is an Assistant Professor of Medicine at Boston University Chobanian and Avedisian School of Medicine as well as a Pulmonary and Critical Care Physician at Boston Medical Center, and she spoke about this topic at the 2025 American Thoracic Society International Conference.

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.

Host: Crystal Proud, MD

Guest: John Brandsema, MD

Guest: Omer Abdul Hamid, MD

Explore the latest treatment options, age-specific management strategies, and clinical trial data for patients with Duchenne muscular dystrophy (DMD). Through expert-led discussions and real-world patient cases, you’ll gain practical insights to help you confidently navigate today’s ever-evolving treatment landscape and deliver personalized, informed care.

Guest: Rosaline Quinlivan

From sustained therapy and emergency planning to psychological support, coordinated care is essential as patients with Duchenne muscular dystrophy (DMD) transition into adulthood. Explore multidisciplinary approaches to optimize function, independence, and quality of life in adults with DMD with Dr. Rosaline Quinlivan, Professor of Neuromuscular Disease at University College London.

Guest: Rosaline Quinlivan

As patients with Duchenne muscular dystrophy (DMD) transition from pediatric to adult care, they may encounter healthcare professionals—from primary care to emergency medicine—without prior experience managing their condition. Explore critical gaps in adult services for DMD and gain practical insights to help deliver timely, informed, and compassionate care with Dr. Rosaline Quinlivan, Professor of Neuromuscular Disease at University College London.

Guest: Gates B. Colbert, MD

When counseling patients with C3 glomerulonephritis (C3GN), an open dialogue, education, and individualized treatment planning are crucial for optimal care. Join Dr. Gates Colbert as he shares practical strategies to foster trust, encourage engagement, and support patients navigating a complex and often unpredictable condition. Dr. Colbert is an Assistant Clinical Professor at Texas A&M College of Medicine and a practicing physician with the Kidney and Hypertension Associates of Dallas, located at Baylor University Medical Center.

Guest: Gates B. Colbert, MD

Managing patients with relapsing or treatment-resistant C3 glomerulopathy (C3GN) often presents significant clinical and emotional challenges. Join Dr. Gates Colbert as he discusses how clinicians can set realistic expectations for patients, collaboratively tailor treatment plans, and mitigate the impacts of itensified treatment regiments on quality of life. Dr. Colbert is a Clinical Assistant Professor at Texas A&M College of Medicine and a practicing physician with Kidney and Hypertension Associates of Dallas at Baylor University Medical Center.

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.

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 recommendations for optimizing respiratory care are Drs. Jason Ackrivo and Bethany Lussier. Dr. Ackrivo is an Assistant Professor of Medicine in Pulmonary, Allergy, and Critical Care at the Hospital of the University of Pennsylvania, and Dr. Lussier is an Associate Professor of Internal Medicine at UT Southwestern Medical Center and a member of its Division of Pulmonary and Critical Care Medicine.

Guest: Joshua Milner, M.D.

Guest: Eric Silver, M.D.

Guest: Steven Lobritto, M.D.

On this episode of Advances in Care, host Erin Welsh explores the story behind the GUARDIAN study, where thousands of newborn babies have been screened against rare disease by sequencing their genes, and looking for more conditions than any of the current standard screening panels. First, she hears from Dr. Jordan Orange, Physician-in-Chief at Morgan Stanley Children’s Hospital at NewYork-Presbyterian and Columbia, about why genetic testing is a promising way of not only catching treatable rare diseases in infants, but also expanding health equity and medical resources to marginalized populations.

Erin also hears from Dr. Josh Milner, a pediatric immunologist who treated a patient with a rare form of SCID, or severe combined immune deficiency, also known as bubble boy disease that was detected in the GUARDIAN screening panel. SCID is a disease that typically occurs in 1 of 50,000 babies. But GUARDIAN caught two cases within the first 10,000 babies involved in the program, indicating that the rate of the disease might be higher than expected, and that the most accurate way to detect is through genetic screening.

Dr. Steven Lobritto, a pediatric gastroenterologist, also weighs in on how genetic screening can help identify Wilson’s disease, a copper storage …