Genetics

Genetics

By ReachMDMedicine
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Genetics episodes

  • Advances in Preimplantation Genetic Diagnosis
    Host: Lee Freedman, MD
    Guest: Anuja Dokras, MD, PhD

    In what situations do couples consider preimplantation genetic diagnosis, or PGD, and should all of these couples undergo genetic counseling prior to PGD? What is the process for PGD? How accurate has PGD testing become, and what are its remaining limitations? How does preimplantation genetic screening differ from PGD? Host Dr. Lee Freedman addresses these questions and more with Dr. Anuja Dokras, medical director of the in vitro fertilization program at Penn Fertility Care and associate professor of obstetrics and gynecology at Penn Medicine.

    15 min
  • Searching for a Cure for Cancer: James Watson, Discoverer of DNA
    Guest: James Watson
    Guest: Joseph Kim, MD, MPH
    Host: Matt Birnholz, MD
    Host: Michael Greenberg, MD

    Host Dr. Matt Birnholz talks with Dr. James Watson, winner of the 1962 Nobel Prize for the discovery of the structure of DNA. They discuss Dr. Watson's current and most pressing interest in cancer research, and its biochemical causes. Also, blogger and physician technologist Dr. Joseph Kim joins Drs Michael Greenberg and Matt Birnholz to talk about Apple's new iPad and its potential uses in healthcare. Dr. Kim is the author of several blogs, including Medicine and Technology. And in the Forum, Greenberg and Birnholz discuss the Lancet retraction of the MMR vaccine and autism link research.

    30 min
  • How Will Pharmacogenomics Play a Role in Diabetes Therapy?
    Host: Steven Edelman, MD
    Guest: Joseph Ma, PharmD

    Pharmacogenomics is applied to select medications with the goal of optimizing drug therapy: maximizing efficacy, minimizing toxicity, and minimizing pharmacokinetic and pharmacodynamic variability. Join guest host, Dr. Candis Morello and Dr. Joseph Ma, assistant professor of clinical pharmacy at the University of San Diego Skaggs School of Pharmacy and Pharmaceutical Sciences, as they discuss the impact of pharmacogenomics in diabetes therapy.

    15 min
  • The Scientific Pursuit of More Precise Care
    Host: Janet Wright, MD
    Guest: Geoffrey Ginsburg, MD, PhD

    Patient-centered care is a hot topic in health care these days, though usually when we think of patient-centeredness, our thinking tilts toward aspects of policymaking or system delivery. Host Dr. Janet Wright takes a look at the science side of patient-centered care — the more precise tailoring of therapy known as personalized medicine — with Dr. Geoffrey Ginsburg, founding director of the Center for Genomic Medicine at the Duke Institute for Genome Sciences and Policy and professor of medicine and pathology at Duke University School of Medicine. Dr. Ginsburg also shares what he considers to be the top priorities of this field, forging a path from the research to clinical care. How might personalized medicine impact cardiovascular care in the years to come?

    15 min
  • Challenges in Management of MPS I
    Host: Bruce Bloom, DDS, JD
    Guest: David Pearce, PhD

    Mucopolysaccharidosis I, or MPS I, often presents initially as a child's failure to thrive, and is a diagnosis with devastating effects. How is new research able to help children with this lysosomal storage disorder? Host Dr. Bruce Bloom talks with Dr. David A. Pearce, director of the Sanford Children's Health Research Center in Sioux Falls, South Dakota, about advances in research into treatment options, including enzyme replacement therapy, for MPS I.

    Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:

    Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations

    Immune System Irregularities in Lysosomal Storage Disorders

    Long Term Efficacy and Safety of Laronidase for MPS I

    15 min
  • Immune System Irregularities in Lysosomal Storage Disorders
    Host: Bruce Bloom, DDS, JD
    Guest: David Pearce, PhD

    How is the immune system involved in lysosomal storage disorders, including juvenile Batten disease, Niemann-Pick type C disease and Krabbe disease? Host Dr. Bruce Bloom welcomes Dr. David A. Pearce, director of the Sanford Children's Health Research Center in Sioux Falls, South Dakota, to discuss research into the immune response in these patients.

    Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:

    Challenges in Management of MPS I

    Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations

    Long Term Efficacy and Safety of Laronidase for MPS I

    15 min
  • Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations
    Host: Bruce Bloom, DDS, JD
    Guest: Gregory Pastores, MD

    What are the musculoskeletal signs and symptoms in children with MPS I? How can we test for MPS I? And how does the disease present in patients as they grow up? Dr. Gregory M. Pastores, associate professor of neurology and pediatrics at the New York University School of Medicine in New York, and director of the neurogenetics laboratory in the department of neurology at NYU, explores with host Dr. Bruce Bloom the diagnostic challenges and management considerations to be reviewed when treating MPS I patients.

    Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:

    Challenges in Management of MPS I

    Immune System Irregularities in Lysosomal Storage Disorders

    Long Term Efficacy and Safety of Laronidase for MPS I

    15 min
  • Long Term Efficacy and Safety of Laronidase for MPS I
    Host: Bruce Bloom, DDS, JD
    Guest: Emil Kakkis, MD, PhD

    Host Dr. Bruce Bloom welcomes Dr. Emil Kakkis, an advisor at BioMarin Pharmaceutical Inc. and author of numerous published articles on mucopolysaccharidosis I, or MPS I, to discuss current treatment options. They discuss the benefits and risks of enzyme replacement therapy with laronidase.

    Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:

    Challenges in Management of MPS I

    Immune System Irregularities in Lysosomal Storage Disorders

    Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations

    15 min
  • Genetic Testing for Pancreatitis: Weighing the Options
    Host: Mark DeLegge, MD
    Guest: Alphonso Brown, MD, MS

    The causes of pancreatitis are often unknown, but we're learning that there are more potential causes than previously believed. Genetic causes are rare, but their detection has improved with new technology. What role might genetic testing play in correctly diagnosing and managing the condition? And what are the ramifications of genetic testing for the patient? Dr. Alphonso Brown, assistant professor of medicine at Harvard Medical School and co-director of the Pancreas Center at Beth Israel Deaconess Medical Center, joins host Dr. Mark DeLegge to discuss the application of genetics for patients with pancreatitis.

    15 min
  • Issues in Funding Pluripotent Stem Cell Research
    Host: Bruce Japsen
    Guest: Ken Aldrich

    Expanded guidelines for stem cell research have favored federal financing for embryonic stem cell development. But some researchers in the field are looking beyond embryonic stem cells. Ken Aldrich, chief executive officer and co-founder of International Stem Cell Corporation, tells host Bruce Japsen about pluripotent stem cell research, not yet eligible for federal funding.

    15 min