Genetics

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: Charles Turck, PharmD, BCPS, BCCCP
Guest: Bruce H. Cohen, MD, FAAN

The diagnosis and management of the rare genetic disease thymidine kinase 2 deficiency (TK2d) can come with many challenges. So to help shed light on those challenges and key management strategies, Dr. Charles Turck speaks with Dr. Bruce Cohen about his experiences and approaches to real-world patient cases in TK2d care. Dr. Cohen is the Chair of the NeuroDevelopmental Science Center at Akron Children’s Hospital in Ohio.

Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Austin Larson, MD

Thymidine kinase 2 deficiency (TK2d) is a rare, genetic condition with nonspecific symptoms that wouldn’t lead to a definitive etiological diagnosis, underscoring the important role genetic testing plays in diagnosing patients. Learn more about the common clinical manifestations of TK2d and the diagnostic process with Dr. Charles Turck and Dr. Austin Larson, Assistant Professor in the Section of Genetics and Metabolism within the Department of Pediatrics at the University of Colorado School of Medicine.

Guest: Bruce H. Cohen, MD, FAAN

Thymidine kinase 2 deficiency is a very rare disorder that presents several diagnostic and treatment challenges. Learn more about those challenges along with the clinical manifestations of thymidine kinase 2 deficiency and the importance of taking a multidisciplinary approach to care with Dr. Bruce H. Cohen, Chair of the NeuroDevelopmental Science Center at Akron Children’s Hospital.

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.

Guest: Sergio Baranzini, PhD

A recent study was designed by the International Multiple Sclerosis Genetics Consortium with the goal in mind to find out whether the severity of multiple sclerosis (MS) could be influenced by genetics. Dive in with Dr. Sergio Baranzini, Distinguished Professor of Neurology at the University of California San Fransico and Co-Senior Author of the study.

Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Kamel Khalili, PhD

Scientists at Temple University’s Lewis Katz School of Medicine have identified a novel gene-editing strategy aimed at eliminating HIV-1 infection with no adverse effects on cell mortality. Find out how this recent discovery could get us one step closer to a cure for HIV with Dr. Charles Turck and Dr. Kamel Khalili, the Laura H. Carnell Professor in the Department of Neuroscience and Chair of the Department of Microbiology, Immunology & Inflammation.

Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Mark Pennesi, MD, PhD

Approximately 165,700 people in the United States are affected by inherited retinal diseases (IRDs) and treatment options for these conditions are limited. So what role does genetic testing play in the patient journey of people living with IRDs? Join Dr. Charles Turck as he dives into this topic with Dr. Mark Pennesi, Professor of Ophthalmology and an IRD specialist affiliated with the Casey Eye Institute at the Oregon Health and Science University School of Medicine.

©Janssen Pharmaceuticals, Inc. 2023 05/23 cp-367503v1

Host: Frederic Rahbari-Oskoui, MD, MSc

This program is no longer availble for credit

This Expert Exchange webcast is designed to help improve clinicians’ ability to apply pharmacologic and non-pharmacologic strategies in the management of patients with ADPKD.

Guest: Dr. Timothy Craig

Hereditary angioedema (HAE) is a rare genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.² The unpredictability of these attacks is a significant burden on patients.³ Fortunately, preventive treatments like TAKHZYRO^® (lanadelumab-flyo) can help reduce the frequency and severity of HAE attacks.¹ Here to share key information and data on this treatment option is Dr. Timothy Craig, Professor of Pulmonary, Allergy, and Critical Care Medicine at Pennsylvania State University.

Indication
TAKHZYRO^® (lanadelumab-flyo) is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥2 years of age.

Important Safety Information
Hypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.

Adverse Reactions: The most commonly observed adverse reactions (≥10%) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; dizziness; diarrhea; and myalgia. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.

Use in Specific Populations: The safety and efficacy of TAKHZYRO in pediatric patients <2 years of age have not been established.

No data are available on TAKHZYRO …

Host: Jennifer Caudle, DO
Guest: William Lumry, MD

Hereditary angioedema (HAE) is a rare, genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.¹ These swelling attacks can be both painful and debilitating, which is why prevention is so important.¹ So what are the treatment options available that can help prevent HAE attacks? Joining Dr. Jennifer Caudle to discuss the importance of long-term prevention for HAE and the role of the treatment option TAKHZYRO (lanadelumab-flyo) is Dr. William Lumry, Clinical Professor of Internal Medicine at the University of Texas Southwestern Medical School.

Indication
TAKHZYRO^® (lanadelumab-flyo) is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥2 years of age.

Important Safety Information
Hypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.

Adverse Reactions: The most commonly observed adverse reactions (≥10%) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; dizziness; diarrhea; and myalgia. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.

Use in Specific Populations: The safety and efficacy of TAKHZYRO in pediatric patients …

Guest: Marc Riedl, MD, MS

Prior to 2008, there were limited approved treatment options for hereditary angioedema (HAE) available in the United States, but today, there are several medications approved by the U.S. Food and Drug Administration for preventing and treating HAE attacks.¹ In light of the number of therapies that have been approved in recent years and continued clinical advancements in HAE research, what do we need to consider when discussing these treatment options with our patients? Here to share those key considerations and important information on the HAE treatment landscape is Dr. Marc Riedl.

Host: Michael Greenberg, MD
Guest: Brook Brouha, MD, PhD

How might genomics help us provide better care for our patients? Joining Dr. Michael Greenberg to share how he’s utilizing genomics in practice is Dr. Brook Brouha, a dermatologist and dermatopathologist at West Dermatology in San Diego, California.

Host: Matthew Sorrentino, MD
Guest: Javed Butler, MD, MBA, MPH

In a groundbreaking procedure, a 57-year-old man with life-threatening heart disease received a heart from a genetically altered pig. Surgeons at the University of Maryland Medical Center performed the 8-hour operation, making it the first successful transplant of a pig's heart into a human being. And while much is still uncertain, what could this achievement mean for the future of organ transplantation? That’s what ReachMD hosts Dr. Matthew Sorrentino and Dr. Javed Butler explore together.

Please note: Since the date of publication, David Bennet, the patient who received a heart transplant from a pig, died at the age of 57 at the University of Maryland Medical Center on March 8, 2022.

Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Emily Carroll, JD, MSW

The No Surprises Act aims to protect consumers from surprise medical bills. But how exactly does it go about doing that, and what’s the current status of its implementation? Joining Dr. Charles Turck to share progress and challenges associated with the No Surprises Act is Ms. Emily Carroll, a senior legislative attorney for the American Medical Association's Advocacy Resource Center.

Host: Hector O. Chapa, MD, FACOG
Guest: Julio M. Jimenez

While many practicing physicians are aware of Mendelian genetics, epigenetics is a much more complicated field of study. What can this field of genetics tell us about chronic health conditions? Dr. Hector Chapa joins Dr. Julio Jimenez, a licensed chiropractic doctor, to discuss the importance of understanding epigenetics.

Host: Hector O. Chapa, MD, FACOG
Guest: Cameron Ayala

Hundreds of millions of people worldwide suffer from lymphedema and lymphatic diseases. Joining us to provide a personal perspective on this condition is Cameron Ayala, a former reality TV persona, compression specialist, and lymphedema patient who will be sharing his experience with Dr. Hector Chapa.­

Host: Jacob Sands, MD
Guest: Pasi Antero Jänne, MD, PhD

Once we’ve confirmed a patient has EGFR-mutated lung cancer, how can we treat them? Joining Dr. Jacob Sands to discuss the current and future treatments for this mutation is Dr. Pasi Janne, a translational thoracic medical oncologist at the Dana-Farber Cancer Institute.

Host: John E. Anderson, MD
Guest: Matthias Hebrok, PhD

Emerging research may offer clinicians an alternative approach to treating type 1 diabetes. Dr. John Anderson meets with Dr. Matthias Hebrok, a professor in diabetes research and director of the Diabetes Center at the University of California, San Francisco, to discuss his groundbreaking research on insulin-producing stem cells.

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.