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Pediatric Neurology & Rare Disease Breakthroughs

MD Newsline

Release Date: 05/28/2025

Beyond the Delivery Room: Data, Doulas, and Patient-Centered OB-GYN show art Beyond the Delivery Room: Data, Doulas, and Patient-Centered OB-GYN

MD Newsline

In this episode of MD Newsline, Dr. Dillon Bannis, an OB-GYN practitioner based in the South Side of Chicago, shares his insights on the evolving challenges and innovations in obstetric and gynecological care. Dr. Bannis explores how listening, collaboration, and technology are reshaping the patient experience—from prenatal care and delivery practices to addressing health disparities and integrating AI into medicine.

With a strong emphasis on patient-centered communication, interdisciplinary col

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Infant Feeding, Early Habits & Childhood Obesity: What Parents Need to Know show art Infant Feeding, Early Habits & Childhood Obesity: What Parents Need to Know

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In this episode of MD Newsline, Dr. Wanda Averhart, a general pediatrician and obesity medicine specialist, explores the complex causes and lifelong impacts of childhood obesity, emphasizing how early feeding practices, maternal health, and social disparities shape children's long-term outcomes.

Dr. Averhart provides a comprehensive look at how environmental, cultural, and biological factors contribute to rising obesity rates among children—especially in underrepresented communities. She discuss

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The Future of Myeloma: Quadruplets, CAR-T & Beyond show art The Future of Myeloma: Quadruplets, CAR-T & Beyond

MD Newsline

In this episode of MD Newsline, Dr. Shaina A. Rozell, a hematologist-oncologist at Affiliate Oncology in Chicago, Illinois, explores the rapidly advancing field of multiple myeloma treatment. She discusses how quadruplet therapies, MRD monitoring, and novel immunotherapies like bispecific antibodies and CAR-T are transforming outcomes for patients. Dr. Rozell also examines disparities in access to care, the growing role of community practices in clinical trials, and the balance between extending survival

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HPV Throat Cancer Misdiagnoses And How Technology Shapes ENT Health show art HPV Throat Cancer Misdiagnoses And How Technology Shapes ENT Health

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In this episode of MD Newsline, Dr. Tonia L. Farmer, a board-certified otolaryngologist and head & neck surgeon, discusses the gaps in ENT care, the growing impact of HPV-related cancers, and the importance of education and early detection in improving outcomes—particularly for underserved communities. Drawing from years of practice, Dr. Farmer explores how social, behavioral, and environmental factors shape ENT health and shares insights on emerging research and technologies revolutionizing the field.

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Personalized Approaches to Metabolic Liver Disease and MASH Management show art Personalized Approaches to Metabolic Liver Disease and MASH Management

MD Newsline

In this episode of MD Newsline, Dr. Christopher Kaisa, Assistant Professor of Medicine in the Section of Gastroenterology, Hepatology, and Nutrition at the University of Chicago Medicine, provides an in-depth discussion on Metabolic Dysfunction-Associated Steatohepatitis (MASH) and the evolving strategies for its management. He explains the latest non-invasive diagnostic tools, pharmacologic advancements, and the importance of multidisciplinary care in improving outcomes for patients with metabolic liver

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What's Next in Diabetes Care: New Treatments and Tech Insights show art What's Next in Diabetes Care: New Treatments and Tech Insights

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In this episode of MD Newsline, Dr. Rachael Sood, a diabetes nurse practitioner and certified diabetes care and education specialist from New Orleans, Louisiana, shares her insights from the 85th American Diabetes Association Scientific Sessions. As the founder of The Diabetes Collective, Dr. Sood discusses the evolution of diabetology—a specialized field focused solely on the identification, treatment, and management of diabetes across all patient populations.

info_outline High-Risk Multiple Myeloma & Personalized Treatment show art High-Risk Multiple Myeloma & Personalized Treatment

MD Newsline

In this episode of MD Newsline, Dr. Martin Kaiser, Consultant Hematologist at the Royal Marsden Hospital and Professor of Hematology at the Institute of Cancer Research, London, discusses groundbreaking advances in the diagnosis and management of high-risk multiple myeloma. Drawing insights from the OptiMUM trial and related studies, Dr. Kaiser explores how genetic profiling, long-term treatment intensity, and personalized approaches are transforming patient outcomes. He also examines the challenges of t

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Clinical Trials vs Real World Practice in Leukemia Treatment show art Clinical Trials vs Real World Practice in Leukemia Treatment

MD Newsline

In this episode of MD Newsline, Dr. Mark R. Litzow, Professor of Medicine at the Mayo Clinic in Rochester, Minnesota, discusses the groundbreaking findings from the ECOG-ACRIN E1910 trial and the evolving role of immunotherapy in acute lymphoblastic leukemia (ALL). He explores how real-world evidence complements clinical trials, the challenges of standardizing measurable residual disease (MRD) testing, and the future of personalized treatment strategies in hematologic malignancies.

Dr. Litzow shares deep

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A New Way to Treat Adrenal Insufficiency with an Insulin Pump show art A New Way to Treat Adrenal Insufficiency with an Insulin Pump

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In this episode of MD Newsline, Dr. Sassan Mirfakhraee, adult endocrinologist and associate professor at the University of Texas Southwestern Medical Center, shares groundbreaking insights into the management of adrenal insufficiency. At the Endocrine 2025 conference, Dr. Mirfakhraee presented his research on utilizing insulin pumps to deliver hydrocortisone—an innovative off-label approach that is showing promising results for patients who remain symptomatic on oral therapy.

He explains how thi

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Fighting Bone Metastasis in Breast Cancer show art Fighting Bone Metastasis in Breast Cancer

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In this episode of MD Newsline, we welcome Dr. Emily Zboril, a PhD candidate at Virginia Commonwealth University, to discuss her groundbreaking research on ER-positive breast cancer with bone metastasis. Emily sheds light on the unique challenges of treating this condition, the role of the bone microenvironment, and how novel therapies like lazophoxifene may change the landscape of care.

She explains how endocrine therapies currently used to block estrogen signaling often worsen bone fragility, leading t

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More Episodes

In this episode of MD Newsline, Dr. Jennifer Vermillion, assistant professor of neurology and pediatrics at the University of Rochester, shares her insights into pediatric movement disorders and rare neurodegenerative diseases, including Tourette syndrome and Batten disease (NCLs). She discusses how early diagnosis, genetic research, and advances in treatment—including gene therapy—are reshaping outcomes for children with these conditions. Dr. Vermillion also emphasizes the role of natural history studies, clinical trial design, and equitable access in improving care for patients and families.

Episode Highlights:

Recognizing Movement Disorders in Children Dr. Vermillion explains the spectrum of pediatric movement disorders, from benign behaviors like infant shuddering to chronic conditions like Tourette syndrome. She underscores the importance of understanding both the neurological and psychiatric aspects of these conditions, especially in children who also experience anxiety, OCD, or behavioral challenges.

Tourette Syndrome: What We Know Now Tourette syndrome is often diagnosed in early childhood and may improve in adulthood for some. While there is no cure, new medications with fewer side effects have replaced older drugs like haloperidol. Dr. Vermillion highlights how improved understanding of brain circuitry and dopamine regulation is advancing treatment options.

Batten Disease and the Role of Natural History Studies As a specialist in neuronal ceroid lipofuscinoses (NCLs), also known as Batten diseases, Dr. Vermillion explains the genetic basis of these rare disorders and the symptoms—seizures, cognitive decline, vision loss, and behavioral changes. She details her work on 20+ years of natural history data collection to support more effective trial design and the evaluation of emerging gene therapies.

Barriers to Diagnosis and Access to Treatment Early diagnosis is crucial—especially when gene-based therapies may halt disease progression. Dr. Vermillion emphasizes the importance of newborn screening, standardized data collection across research centers, and the ethical challenges of delayed or denied insurance coverage for costly but life-altering treatments.

The Future of Pediatric Rare Disease Care Dr. Vermillion is optimistic about the rapid advancements in rare disease therapy, particularly gene therapy and precision medicine. However, she calls for stronger advocacy, improved measurement tools, and more equitable systems to ensure all patients benefit from these scientific breakthroughs.

Key Takeaway:

With expanding access to genetic testing and emerging gene-based therapies, the landscape for pediatric movement and neurodegenerative disorders is evolving rapidly—highlighting the need for early diagnosis, collaborative research, and equitable access to care.

Resources & Links:

Website: MD Newsline Newsletter: Subscribe Here

Connect with Dr. Jennifer Vermillion: https://www.urmc.rochester.edu/people/112360756-jennifer-a-vermilion


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