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Genetics

ReachMD

science & medicine medicine

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Ethical Issues in Genetic Testing: the Who, What,...

Genetics ·

2015/02/16

Guest: Wylie Burke, MD, PhD Host: Howard Levy, MD, PhD The advances of genetic and genomic medicine within clinical practice enable more precisioned, predictive care decisions. But with these new capabilities and access points to patient information come new ethical challenges. Understanding which information will be clinically valuable, how and where that information should be stored, who can access it and why are just starting points for ethical consideration. Joining Dr. Howard

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Personalized Diagnostics & Targeted Therapies

Genetics ·

2014/04/25

Host: Lee Freedman, MD The Philadelphia Chromosome provided the first evidence that genetic abnormalities were linked to cancer. This discovery at Penn Medicine more than 50 years ago ushered in the modern period of cytogenetics. Now, the Center for Personalized Diagnostics (CPD) builds on this legacy and is set to pave the way for a new era of genomic and therapeutic pathology. The Center is a joint initiative with the Abramson Cancer Center and integrates molecular genetics,

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Familial Hypercholesterolemia: Risk Stratifications...

Genetics ·

2011/06/01

Guest: Jennifer Robinson, MD, MPH Host: Alan S. Brown, MD, FACC, FAHA, FNLA Who should be tested for genetically elevated cholesterol, or familial hypercholesterolemia? And how do we decide when and how to treat? Host Dr. Alan Brown talks with Dr. Jennifer G. Robinson, director of the Lipid Research Clinic and co-director of the Prevention Intervention Center at the University of Iowa. They discuss who is at risk in families, what age to start testing children, as well as treatment

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Updates on Familial Dysautonomia Research: How a...

Genetics ·

2010/07/16

Guest: Berish Rubin, PhD Host: Bruce Bloom, DDS, JD Only a few years ago familial dysautonomia (FD) was a fatal disease, but some "Rediscovery Research" from the FD lab at Fordham University in Bronx, New York, is turning this killer into a chronic manageable disease. What have we learned from familial dysautonomia research, and how might this help patients with other diseases? Joining host Dr. Bruce Bloom to provide an update on current FD research and treatment is Dr. Berish

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Challenges in Management of MPS I

Genetics ·

2009/08/05

Guest: David Pearce, PhD Host: Bruce Bloom, DDS, JD 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

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Immune System Irregularities in Lysosomal Storage...

Genetics ·

2009/08/05

Guest: David Pearce, PhD Host: Bruce Bloom, DDS, JD 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

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Musculoskeletal Aspects of MPS I: Diagnosis and...

Genetics ·

2009/08/05

Guest: Gregory Pastores, MD Host: Bruce Bloom, DDS, JD 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

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Long Term Efficacy and Safety of Laronidase for MPS I

Genetics ·

2009/08/04

Guest: Emil Kakkis, MD, PhD Host: Bruce Bloom, DDS, JD 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

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Genetic Clues to Male Infertility

Genetics ·

2009/05/27

Host: Lee Freedman, MD Guest: Michael Hildebrand, PhD Researchers have discovered a CATSPER gene mutation that may lead to development of a male infertility treatment, as well as a male contraceptive. Are we really another step closer to developing a male contraceptive, and when might an oral contraceptive be available for men? Join host Dr. Lee Freedman as he talks with Dr. Michael Hildebrand, fellow in the department of otolaryngology at the Carver College of Medicine, University

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What PAs Need to Know About Genetic Testing

Genetics ·

2009/05/14

Guest: Andrew Faucett Host: Lisa Dandrea Lenell, PA-C, MPAS, MBA How does a PA handle a patient who comes in following genetic testing, and how do they counsel that patient on their results? PA educators are realizing this scenario is becoming commonplace. Since 2008, genetics is now a required course for all PA students. Andrew Faucett, an assistant professor in the department of human genetics at Emory University School of Medicine in Atlanta joins host Lisa D'Andrea Lenell to

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Research on Genetic Traits of ADHD

Genetics ·

2009/04/15

Host: Vatsal Thakkar, MD Guest: Randy Blakely, PhD Dopamine is an important neurotransmitter in the cortex, essential to movement and activity control, as well as attention and executive function, tying this transporter to ADHD. How are scientists finding the genetic markers that may be transmitted to those with ADHD, and how does this help scientists understand more about the disorder? Dr. Randy Blakely, director of the Center for Molecular Neuroscience at the Silvio O. Conte

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Testing to Trace Cancers of Unknown Primary Origin

Genetics ·

2009/03/30

Guest: F. Anthony Greco, MD Host: Larry Kaskel, MD Cancer is so often an agonizing diagnosis, one that can be that much more difficult for a patient to accept when the origin of the cancer cannot be traced. Novel genetic tests are just one of a few new options that may help us in situations where imaging, therapy, and other genetic markers have not been effective. Dr. F. Anthony Greco, director of the Sarah Cannon Cancer Center in Nashville, tells us that we appear to be making

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Genetic Tumor Testing

Genetics ·

2009/03/27

Guest: Leif Ellisen, MD, PhD Host: Lee Freedman, MD A new program at Massachusetts General Hospital in Boston includes extracting the DNA from its cancer patients’ tumors to determine which abnormalities occur in the tumor cells, specific to the type of tumor. From these results, physicians hope to create better, targeted cancer therapies. Host Dr. Lee Freedman asks Dr. Leif Ellisen, associate professor of medicine at Harvard Medical School, about the details of this program. Will

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Breast Reconstruction With Help From Stem Cells

Genetics ·

2009/03/11

Guest: Marc Hedrick, MD Host: Bruce Japsen Many view the promise of stem cells as something far off in the distance, but these regenerative cells are nearing commercialization in the area of cosmetic and plastic surgery, particularly for women who are in need of reconstructive breast surgery. Dr.Marc Hedrick, president of San Diego based Cytori Therapeutics, tells the Chicago Tribune's Bruce Japsen about a commercialized device in Europe that uses adult stem cells derived from fat

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Stem Cell Treatments for Man's Best Friend and Man...

Genetics ·

2009/03/03

Guest: Robert Harman Host: Bruce Japsen Human stem cell treatments are only just emerging in clinical trials. but man's 'best friend' is already benefitting from pain relief and important treatments that are commercialized. And this work in dogs and cats could one day benefit human patients. Dr. Robert Harman, CEO and founder of Vet-Stem, tells the Chicago Tribune's Bruce Japsen about the latest efforts by a stem cell therapy developer to use fat cells for treatments, a therapy

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Inherited Susceptibility to Common Cancers

Genetics ·

2009/02/12

Host: Bruce Bloom, DDS, JD Guest: William Foulkes, MD, PhD What has genetic research taught us about the inheritance of common cancers? And how can we use this knowledge to help patients? Dr. William Foulkes, director of the cancer genetics program at McGill University in Canada, talks with host Dr. Bruce Bloom about the questions raised and the answers revealed when we look at cancer risk from a genetic perspective.

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Drug Response Variability: Toward Customized...

Genetics ·

2009/01/26

Guest: Dan Roden, MD Host: Bruce Bloom, DDS, JD The greatest side effect of medications is that they often don't do what we expect them to do. Dr. Dan Roden, professor in the departments of medicine and pharmacology at Vanderbilt University School of Medicine, talks with Dr. Bruce Bloom about variability in response to drugs. Genetic components are just one of many reasons patients respond differently. Dr. Roden also discusses his specific work with customizing treatment for

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New Advances in the Treatment of Familial Dysautonomia

Genetics ·

2009/01/13

Guest: Berish Rubin, PhD Host: Bruce Bloom, DDS, JD Host Dr. Bruce Bloom welcomes Dr. Berish Rubin, professor in the department of biological sciences and head of the Laboratory for Familial Dysautonomia research at Fordham University in Bronx, New York. A genetic condition, symptoms include inability to swallow, respiratory congestion, poor muscle tone, and delayed developmental milestones. Dr. Rubin reports on the latest research and how close we are to finding a cure.

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Uncovering the Gene Mutation for Familial Dysautonomia

Genetics ·

2009/01/13

Guest: Berish Rubin, PhD Host: Bruce Bloom, DDS, JD In only three months' time, researchers Dr. Berish Rubin and Dr. Sylvia Anderson and their team uncovered the genetic cause of familial dysautonomia (FD). Dr. Rubin, professor in the department of biological sciences at Fordham University, joins host Dr. Bruce Bloom to share his story and the research that led them to identify the gene mutation responsible for FD, a variation most often found in the Ashkenazi Jewish

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Genetic Screening Guidelines: Looking Back, Looking...

Genetics ·

2009/01/08

Guest: Artemis Simopoulos, MD Host: Lee Freedman, MD The field of genetics was developing so rapidly in 1975, that the National Academy of Sciences published a set of genetic screening guidelines. These guidelines are still considered classic over three decades after their publication. Do all of the recommendations remain true today? Host Dr. Lee Freedman outlines the guidelines with guest Dr. Artemis Simopoulos, founder and president of the non-profit Center for Genetics,

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