On this episode of Advances in Care, host Erin Welsh revisits the story behind the GUARDIAN study, which screens thousands of newborn babies 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, former 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. Joshua 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 incidence 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 disorder that causes liver damage when left unchecked. And Dr. Eric Silver, a pediatric electrophysiologist, discusses how the program detected a heart rhythm disorder called Long QT Syndrome for both a newborn baby and their father. Finally, Erin gets the big-picture takeaways from Dr. Orange, who reflects on what the results of GUARDIAN could mean for the future of newborn screening and health policy, and how he hopes to see genetic testing expand research and treatment of rare diseases. Since recording this episode, Dr. Orange has taken on the role of pediatrician-in-chief of the Children’s Hospital of Philadelphia. Under his leadership, the department of pediatrics received consistent funding for research projects, reaching its highest level in 2024. This podcast conversation is a direct reflection of his team’s commitment to advancing children’s health at NewYork-Presbyterian and Columbia. For more information visit nyp.org/Advances CHAPTERS: [00:00 – 7:024 Establishing the GUARDIAN Program Dr. Jordan Orange introduces the GUARDIAN Program, a newborn screening panel that can detect over 450 rare and treatable genetic conditions. [7:24 – 13:48] Early Detection of Severe Combined Immune Deficiency (SCID) Dr. Orange emphasizes the importance of genetic diversity in the testing population for the GUARDIAN study. Dr. Joshua Milner, co-author of the study, talks about how the GUARDIAN screening detected a patient with severe combined immune deficiency and allowed for early intervention. [13:48– 17:45] Identifying Wilson’s Disease with GUARDIAN Dr. Steven Lobritto shares how identifying Wilson’s disease before complications manifest later in life allows for a simple treatment that can enable patients to avoid organ damage and transplant. [17:45 – 21:41] Long QT Syndrome and Results of GUARDIAN Dr. Eric Silver discusses how early detection of Long QT Syndrome found the same gene in a child and their father and led to both starting medication to prevent abnormal heart rhythms. Dr. Orange also discusses the implications and future goals of this study. [23:01 – 23:45] Credits

On this episode of Advances in Care, Erin Welsh is joined by Dr. Lawrence Lustig, otolaryngologist-in-chief at NewYork-Presbyterian and Columbia. Dr. Lustig has spent decades working to advance various interventions to treat genetic hearing loss and after years of research his team was the first to show that gene therapies could be effective at reversing genetic hearing loss in mouse models and eventually, humans. In April 2026, the FDA approved the first ever gene therapy for a rare form of genetic otoferlin deafness based on the work pushed forward by Dr. Lustig. Dr. Lustig shares how he and his team brought this approach to treating genetic deafness from mouse models, to humans, to FDA approval in record time, and why this new therapy will have a profound effect on treatments for hearing loss in the years to come.

On this episode of Advances in Care, Erin Welsh is joined by Dr. Barbara Ma, a medical oncologist at NewYork-Presbyterian who leads Cellular Therapy for Solid Tumors at Weill-Cornell Medicine. Dr. Ma and her team are at the forefront of utilizing a new therapy in the treatment of metastatic melanoma called tumor-infiltrating lymphocyte therapy—or TIL therapy—which received FDA approval in 2024. Patients receiving TIL therapy have seen tumors shrink in as little as one week after their first round of treatment. Dr. Ma discusses how her team is working to optimize TIL therapy by shortening the manufacturing process and reducing treatment-related toxicity to improve the patient experience. NewYork-Presbyterian and Weill Cornell Medicine is one of only a handful of medical centers to provide TIL therapy based on the complexity of this treatment approach, and also lead new research efforts to expand its potential for treating solid tumor cancers.

On this episode of Advances in Care, Dr. Leonardo Lopez, a psychiatrist at NewYork-Presbyterian and vice chair for inpatient services in the Department of Psychiatry at Weill Cornell Medicine, joins Erin Welsh to discuss a transformative but widely inaccessible psychiatric treatment: electroconvulsive therapy (ECT). Dr. Lopez describes the history of the treatment, how it has evolved since its inception to become one of the safest procedures done under general anesthesia, and the dramatic response rates. He also shares the transformative story of a pediatric patient with catatonia whose syndrome resolved after a 6-week ECT treatment plan allowing her to return to normal life activities. Despite the positive responses, ECT has carried a stigma born of its early practices and portrayals in media however, the modern version of this therapy is less than 5 minutes and is administered while patients are under general anesthesia, resulting in some of the fastest-acting psychiatric treatments for certain conditions, with minimal side effects.

On this episode of Advances in Care, Dr. Steven Lobritto, pediatric medical director for liver transplant at NewYork-Presbyterian and Columbia, joins host Erin Welsh to tell the story of the high-risk pediatric partial liver transplant to save the life of a two month old baby, after the center where the baby was originally treated deemed her inoperable. Dr. Lobritto explains how he and his team coordinated with the patient’s initial care team across the country to prepare the critically ill, 11-pound baby to fly to New York, and the intricacies of the surgical procedure. He also describes how this case demonstrates the need for universal surgical training in partial liver transplant, to help save the lives of more young patients.

On this episode of Advances in Care, Erin Welsh speaks with Dr. Howard Fine, neuro-oncologist at NewYork-Presbyterian and director of the Brain Tumor Center at Weill Cornell Medicine, about his groundbreaking research in glioblastoma. Dr. Fine’s lab is bioengineering cerebral organoids - called mini brains - from human embryonic stem cells through a platform called GLICO, which creates genetically matched, patient-specific brain models using an individual's immune cells and glioma cells. These miniature replicas allow researchers to map how a tumor may progress, and test new, individualized therapeutic approaches, offering a hope for transforming glioblastoma into a manageable disease and improving overall survivorship.

Many women in the US are having children at a later age than in the past, and with that comes an increased occurrence of common conditions like high blood pressure, diabetes, and high cholesterol that can put them at risk for heart disease while pregnant or afterwards. In fact, cardiovascular disease is now the leading cause of maternal mortality in the US, with pulmonary hypertension and peripartum cardiomyopathy posing significantly high risks. Dr. Jennifer Haythe joins Advances in Care host Erin Welsh to discuss the prevalence of medically complex pregnancies due to heart disease and the pioneering, multi-disciplinary teamwork she is leading through the cardio-obstetrics program at NewYork-Presbyterian and Columbia to successfully care for these patients.

Chiari malformation is a rare, potentially very serious condition that can easily be misdiagnosed without proper expertise. Untreated, complications like hydrocephalus, CSF leaks, cysts in the spinal cord, and nerve and muscle damage can develop but Dr. Jeffrey Greenfield, a pediatric neurosurgeon at NewYork-Presbyterian, is addressing the unmet need for better management of this disorder through the Chiari CARE program at Weill Cornell Medicine–a multidisciplinary care model involving neurology, pain management, neuropsychology, radiology, and other specialties. This initiative is paving the way towards providing full-spectrum care to patients and furthering research to develop better treatment pathways for the future. Dr. Greenfield joins Erin Welsh on this episode of Advances in Care to discuss the types of Chiari malformation and how NewYork-Presbyterian, an integrated academic hospital, is uniquely positioned to provide transitional care to patients, treating them from childhood through adulthood.

Dr. Jeffrey Port joins Advances in Care host Erin Welsh to discuss advances in thoracic surgery and the unique collaborative care model NewYork-Presbyterian and Weill Cornell Medicine employs to operate on complex chest tumors. In recent years, new robotic approaches to thoracic surgery have revolutionized the field and currently, NewYork-Presbyterian and Weill Cornell Medicine is one of only 10 centers nationwide that is performing advanced lung procedures utilizing single port robotic technology, the newest paradigm in minimally invasive surgery. This combination of cutting edge surgical techniques, high case volume, and a multidisciplinary care, is meaningfully expanding treatment options for patients who cannot be treated elsewhere.

Advances in Care host Erin Welsh is joined by Dr. Mirella Mourad, maternal-fetal medicine specialist at NewYork-Presbyterian and co-director of the Preterm Birth Prevention Center at Columbia, to talk about her groundbreaking work in obstetrics and high-risk pregnancy care. Along with her collaborator Dr. Kristin Meyers from Columbia’s School of Engineering, Dr. Mourad has developed a patient-specific “digital twin” of the cervix: an innovative model designed to improve the assessment, diagnosis, and management of preterm birth. This cutting-edge technology enables clinicians to better identify patients at risk, personalize treatment strategies for successful pregnancy outcomes, and advance research in the field of maternal-fetal medicine.