Genetics

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Drew Weissman, MD, PhD

Dr. Drew Weissman, Professor of Medicine at Penn Medicine joins Dr. Turck to discuss his new COVID-19 vaccine technology and how RNA and mRNA are being used to provoke an immune response in order to combat the COVID-19 pandemic.

Host: Matthew J. Sorrentino, MD, FACC, FASH

Guest: Anita J. Moon-, MD, FAAP, FACC

Guest: Laxmi Ghimire, MD, FAAP

Dr. Matthew Sorrentino sits down with Dr. Anita Moon-Grady, a pediatric cardiologist at UCSFD, and Dr. Laxmi Ghimire, a pediatric specialist at Lake Region General Hospital to discuss the results from their recent study published in the American Journal of Cardiology, focusing on the prevalence of congenital heart disease in conjoined twins and higher-order multiple births.

Host: Ivy Ka Man Law, PhD

A Specific Mutation in Muc2 Determines Early Dysbiosis in Colitis-Prone Winnie Mice

Marina Liso, Stefania De Santis, Giulio Verna, Manuela Dicarlo, Maria Calasso, Angelo Santino, Isabella Gigante, Rajaraman Eri, Sathuwarman Raveenthiraraj, Anastasia Sobolewski, Valeria Palmitessa, Antonio Lippolis, Mauro Mastronardi, Raffaele Armentano, Grazia Serino, Maria De Angelis, Marcello Chieppa

Background: Inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), is a multifactorial disorder characterized by chronic inflammation and altered gut barrier function. Dysbiosis, a condition defined by dysregulation of the gut microbiome, has been reported in patients with IBD and in experimental models of colitis. Although several factors have been implicated in directly affecting gut microbial composition, the genetic determinants impacting intestinal dysbiosis in IBD remain relatively unknown.

Methods: We compared the microbiome of normal, uninflamed wild-type (WT) mice with that of a murine model of UC (ie, Winnie strain). Winnie mice possess a missense mutation in Muc2 that manifests in altered mucus production as early as 4 weeks of …

Host: Jennifer Caudle, DO

Guest: Anjali Owens, MD

Without any targeted therapies available for inherited cardiomyopathy, how can we treat our patients coping with its debilitating symptoms? Here to share her diagnostic and management strategies along with key data from a recent study is Dr. Anjali Owens, Medical Director at the Center for Inherited Heart Disease at Penn Medicine.

Host: Paul Doghramji, MD

Guest: Jonathan Stokes

The World Health Organization recently listed antibiotic resistance as one of the biggest threats to global health, causing researchers to search for potential antibiotic candidates to combat this crisis. To find one such candidate, one research team turned to an unexpected source: artificial intelligence.

Here to walk us through the team’s approach and findings is Johnathon Stokes, the lead author of the study that identified a powerful new antibiotic compound.

Host: Paul Doghramji, MD

Guest: Maria Escolar, MD, MS

Adrenoleukodystrophy (ALD) is a rare genetic disorder that when left untreated, can have severe and even fatal consequences. Here to review the available treatment options for these patients is Dr. Maria Escolar, the Director of the Program for the Study of Neurodevelopment in Rare Disorders and a Professor of Pediatrics at the University of Pittsburgh School of Medicine.

Host: Linda Bernstein, Pharm.D.

There are currently four gene therapy products approved by the FDA, and with the FDA anticipating that there will be many more approvals in the future, how can they continue advancing the field of gene therapy all while ensuring that these innovative products meet their strict standards for safety and effectiveness? Pharmacist Dr. Linda Bernstein breaks down their six new guidance documents.

Host: Paul Doghramji, MD

Guest: Gregory S. Sawicki, MD, MPH

Even though there currently isn’t a cure for cystic fibrosis, there may finally be hope on the horizon for the more than 70,000 people around the world who are living with this debilitating disease. Joining Dr. Paul Dogramji to talk about the emerging treatment options for cystic fibrosis is Dr. Gregory Sawicki, Director at the Cystic Fibrosis Center and Assistant Professor of Pediatrics at Harvard Medical School.

Host: Mario R. Nacinovich, Jr., MSc

Guest: Paul Orchard, MD

Although it only affects about one in 18,000 people, the impacts of adrenoleukodystrophy cannot be underestimated. That’s why Dr. Paul Orchard joins Mario Nacinovich to talk about this rare—and fatal—genetic disease, why it’s often underdiagnosed and confused with other conditions, and how we can treat it once we’ve reached an accurate diagnosis.

Host: Jenn Simmons, MD

Guest: Susan Domchek, MD

Tune in as Dr. Jen Simmons is joined by Dr. Susan Domcheck, who debunks the common misconception that men don’t have to worry about the BRCA mutation and dives into the explorations of the BFOR Study.