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 …

Host: Nathan A. Boggs, MD

Host: Tracy George, MD

Host: Lindsay Rein, MD

The identification of KIT D816V mutation as a key driver for the expansion and accumulation of neoplastic mast cells in systemic mastocytosis (SM) has significantly improved the diagnosis, subclassification, and management of SM. Moreover, the advent of novel targeted therapies has dramatically changed the treatment landscape. However, challenges persist for community clinicians due to the low prevalence of SM and its vague and wide spectrum of clinical features. Expanded knowledge of the recommended pathology and laboratory evaluation for the diagnosis and subclassification of the disease is needed to shorten delays in diagnosis and delivery of optimal care. Tune in and find out more about the management of SM and the latest clinical evidence and guideline recommendations for the use of tyrosine kinase inhibitors (TKIs) and learn about the role played by pathologists in the identification and diagnosis of SM, which ultimately guides treatment selection.

Host: Nathan A. Boggs, MD

Host: Tracy George, MD

Host: Lindsay Rein, MD

The identification of KIT D816V mutation as a key driver for the expansion and accumulation of neoplastic mast cells in systemic mastocytosis (SM) has significantly improved the diagnosis, subclassification, and management of SM. Moreover, the advent of novel targeted therapies has dramatically changed the treatment landscape. However, challenges persist for community clinicians due to the low prevalence of SM and its vague and wide spectrum of clinical features. Expanded knowledge of the recommended pathology and laboratory evaluation for the diagnosis and subclassification of the disease is needed to shorten delays in diagnosis and delivery of optimal care. Tune in and find out more about the management of SM and the latest clinical evidence and guideline recommendations for the use of tyrosine kinase inhibitors (TKIs) and learn about the role played by pathologists in the identification and diagnosis of SM, which ultimately guides treatment selection.

Host: Nathan A. Boggs, MD

Host: Tracy George, MD

Host: Lindsay Rein, MD

The identification of KIT D816V mutation as a key driver for the expansion and accumulation of neoplastic mast cells in systemic mastocytosis (SM) has significantly improved the diagnosis, subclassification, and management of SM. Moreover, the advent of novel targeted therapies has dramatically changed the treatment landscape. However, challenges persist for community clinicians due to the low prevalence of SM and its vague and wide spectrum of clinical features. Expanded knowledge of the recommended pathology and laboratory evaluation for the diagnosis and subclassification of the disease is needed to shorten delays in diagnosis and delivery of optimal care. Tune in and find out more about the management of SM and the latest clinical evidence and guideline recommendations for the use of tyrosine kinase inhibitors (TKIs) and learn about the role played by pathologists in the identification and diagnosis of SM, which ultimately guides treatment selection.

Host: Nathan A. Boggs, MD

Host: Tracy George, MD

Host: Lindsay Rein, MD

The identification of KIT D816V mutation as a key driver for the expansion and accumulation of neoplastic mast cells in systemic mastocytosis (SM) has significantly improved the diagnosis, subclassification, and management of SM. Moreover, the advent of novel targeted therapies has dramatically changed the treatment landscape. However, challenges persist for community clinicians due to the low prevalence of SM and its vague and wide spectrum of clinical features. Expanded knowledge of the recommended pathology and laboratory evaluation for the diagnosis and subclassification of the disease is needed to shorten delays in diagnosis and delivery of optimal care. Tune in and find out more about the management of SM and the latest clinical evidence and guideline recommendations for the use of tyrosine kinase inhibitors (TKIs) and learn about the role played by pathologists in the identification and diagnosis of SM, which ultimately guides treatment selection.

Guest: Leonard H. Calabrese, DO

With at least 4 percent of patients who experience COVID-19 developing long COVID, improving care for post-infectious chronic conditions is critical. By prioritizing research and education on the rheumatological effects of acute infections, we can address these patients’ unmet needs. Join Dr. Leonard Calabrese, Vice Chairman of the Department of Rheumatic and Immunologic Disease and Head of Clinical Immunology at the Cleveland Clinic Foundation, as he explains what we know so far about these conditions.

Guest: Kathleen M. Buchheit, MD

Guest: Joseph K. Han, MD

Chronic rhinosinusitis with nasal polyps (CRSwNP) is associated with a low quality of life and increased healthcare utilization,1,2 and patients often continue to have severe symptoms despite therapy.​3 Understanding the role of underlying inflammatory pathways and epithelial dysfunction may help inform clinical decision making for these patients.​3,4 In this program, Dr Kathleen Buchheit and Dr Joseph Han share their insights on the pathophysiology of CRSwNP and how unaddressed underlying inflammation may contribute to a variety of challenges for patients. Dr Buchheit is an Assistant Professor of Medicine at Harvard Medical School, specializing in Allergy and Immunology. Dr Han is a Professor of Otolaryngology, the Chief for the Division of Rhinology and Endoscopic Sinus and Skull Base Surgery, and the Chief of the Division of Allergy at Eastern Virginia Medical School in Norfolk, Virginia.

References:

1. Mullol J, et al. J Allergy Clin Immunol Pract. 2022;10:1434-1453.e9
2. Bhattacharyya N, et al. Laryngoscope. 2019;129:1969-1975.
3. van der Veen J, et al. Allergy. 2017;72:282-290.
4. Laidlaw TM, et al. J Allergy Clin Immunol Pract. 2021;9:1133-1141.

©2024 Amgen and AstraZeneca. All rights reserved.
US-96000 Last Updated 12/24

In this brief video, learn more about growing evidence supporting the key role of airway epithelium dysfunction in driving inflammation in CRSwNP.

©2025 Amgen and AstraZeneca. All rights reserved.
US-94728 Last Updated 1/25

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Stephen I. Pelton, MD

In the last two pre-pandemic flu seasons, approximately half of hospitalizations from influenza in the US were in adults 65 and older.1,2 A recent real-world study evaluated the relative effectiveness of adjuvanted influenza vaccine versus high-dose vaccine in preventing test-confirmed influenza hospitalizations in this age group across three flu seasons between 2017 and 2020.3 Dr. Charles Turck sits down with Dr. Stephen Pelton, an author on this study, to explore the findings and their implications for influenza vaccination strategies in older adults. Dr. Pelton is a Professor of Pediatrics at the Boston University Chobanian and Avedisian School of Medicine.

References:

1. Pelton SI, Nguyen VH, Mould-Quevedo JF. The value of influenza vaccination in the older adult population. A stochastic model estimation of the benefit of vaccination to prevent the severe outcomes in the U.S. Poster presented at: IDWeek 2023; October 11-15; Boston, MA.
2. Pelton SI, Mould-Quevedo JF, Nguyen VH. The impact of adjuvanted influenza vaccine on disease severity in the US: a stochastic model. Vaccines. 2023;11:1525.
3. McGovern I, Chastek B, Bancroft T, et al. Relative vaccine effectiveness of MF59-adjuvanted vs high-dose trivalent inactivated influenza vaccines for prevention of test-confirmed influenza hospitalizations during the 2017-2020 influenza seasons. Int J Infect Dis. …

Guest: Ryan Maves, MD

Guest: Susan Corbridge, PhD, APRN, ACNP-BC, FAANP, FCCP, FAAN

Although there have been several advances in vaccine technology and safety the past few years, the prevalence of vaccine hesitancy among patients is increasing. Since vaccine hesitancy heightens the burden of potentially life-threatening viruses like RSV and influenza, Dr. Ryan Maves speaks with Dr. Susan Corbridge about why patients might be reluctant to get vaccinated and how we can use the First 5 Minutes approach to provide individualized counseling on the importance of vaccines. Dr. Maves is a Professor of Medicine and Anesthesiology in the Sections of Infectious Diseases and Critical Care Medicine at the Wake Forest University School of Medicine, and Dr. Corbridge is a Professor Emerita at the University of Illinois at Chicago College of Nursing.

This episode is supported by an educational grant from Moderna.