Genetics

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 …

No Label: Paul Kruszka, MD

Paul Kruszka, MD, Chief Medical Officer at GeneDx, discusses advanced genomic testing, emphasizing how these tests are used to guide diagnosis and treatment decisions associated with neurodevelopmental conditions, including genetic variants associated with epilepsy.

Host: Denis Hadjiliadis, MD, MHS, PhD

Guest: Gregory S. Sawicki, MD, MPH

Guest: Alexandra Wilson, MS, RDN, CDE

Guest: Susanna A. McColley, MD

Cystic Fibrosis (CF) care faces challenges from health disparities, limited access, and unintended bias, affecting patient outcomes. This CME program aims to equip healthcare professionals with the skills needed to overcome these barriers and provide equitable care for all CF patients. It covers telehealth strategies, best practices for transitioning patients from pediatric to adult care, and managing co-morbidities. The program also explores how evolving treatments impact patient outcomes.

Guest: John Brandsema, MD

As patients with Duchenne muscular dystrophy (DMD) age, their treatment regimens, considerations, and goals change. That’s why Dr. John Brandsema is here to talk about how we can best treat and support patients with DMD throughout their entire care journey. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Guest: John Brandsema, MD

Between 60 and 70 percent of patients with Duchenne muscular dystrophy (DMD) also have a diagnosable neurobehavioral phenotype like autism, ADHD, and anxiety. Here to talk about these common neurobehavioral issues in patients with DMD and how we can manage them is Dr. John Brandsema, Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: John Brandsema, MD

The gene therapy delandistrogene moxeparvovec was recently approved for patients with Duchenne muscular dystrophy (DMD) who are at least 4 years old. This expanded approval is based on the efficacy and safety results from the EMBARK trial. Joining Dr. Charles Turck to break down those key findings and the implications of this advancement in DMD treatment is Dr. John Brandsema. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia, where one of the clinical trials for this gene therapy took place.

Guest: Bryson Katona, MD, PhD

At the 2024 Digestive Disease Week Annual Meeting, Dr. Bryson Katona presented a session, titled “High-Risk Colon Cancer: The ABCs of Genetic Testing.” And now, Dr. Katona is here with Dr. Jody Takemoto to share key insights from his session on genetic testing for patients with high-risk colon cancer. Dr. Katona is the Director of the Gastrointestinal Cancer Genetics Program and Risk Evaluation Program and the Lynch Syndrome Program at Penn Medicine

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Henry Rosenberg, MD

Malignant hyperthermia is an inherited disorder primarily recognized by anesthesia professionals. And since this condition can have significant consequences on a patient’s health, including their likelihood of surviving surgery, it’s important to know how to diagnose and treat malignant hyperthermia emergencies in operating room settings. Join Dr. Charles Turck as he dives deeper into this topic with Dr. Henry Rosenberg, a member of the Board of Directors of the Malignant Hyperthermia Association of the United States.

Host: Andrew Wilner, MD, FACP, FAAN

Guest: Marcus E. Peter, PhD

Death induced by survival gene elimination (DISE) is a cell death mechanism mediated by short RNAs. And according to a recent study, there may be a correlation between toxic DISE, DNA damage, and neuronal cell death in patients with Alzheimer’s disease. Learn more about the study’s findings and potential implications with Dr. Andrew Wilner and Dr. Marcus Peter, Professor of Medicine in the Division of Hematology and Oncology as well as a Professor of Biochemistry and Molecular Genetics at Northwestern University Feinberg School of Medicine in Chicago.

Host: John Buse, MD, PhD

Guest: Louis Philipson, MD, PhD

Over the last 15 years, the monogenic diabetes registry now has over 4,000 patients involved, and from that, the RADIANT study was started to identify new kinds of rare and atypical diabetes. So how can genetics testing and the RADIANT study provide atypical diabetes patients with better diagnoses and treatment? Learn more with Dr. John Buse and Dr. Louis Philipson, Professor in the Department of Medicine and Pediatrics at the University of Chicago.