PODCAST

Genetics

ReachMD

science & medicine medicine

All Episodes

00:00:00

Understanding and Treating Birt-Hogg-Dubé Syndrome

Genetics ·

2008/11/24

Host: Bruce Bloom, DDS, JD Guest: Eamonn R. Maher, MD Guest: John Solly, PhD Skin lesions, pneumothorax and kidney tumors? Is it Birt-Hogg-Dubé Syndrome? Described in the late 1970s, Birt-Hogg-Dubé was very difficult to recognize until recent molecular genetic testing made the diagnosis of this orphan disease more accurate. What is this disease? What systems does it affect? How do we treat it and what is the hope for the future? Join host Dr. Bruce Bloom and his guests Dr

00:00:00

Myrovlytis Trust: Searching for Orphan Disease Cures

Genetics ·

2008/11/24

Host: Bruce Bloom, DDS, JD Guest: John Solly, PhD The worldwide effort to find cures for rare disease is often the work of small organizations such as the the Myrovlytis Trust, a not-for-profit organization in Great Britain dedicated to finding treatments and cures for rare diseases. John Solly, charity manager for the Myrovlytis Trust, talks with host Dr. Bruce Bloom, the rationale for focusing large dollars on diseases affecting a small population and how the Trust is approaching

00:00:00

Helping Patients and Families Understand Fragile X...

Genetics ·

2008/08/11

Host: Mark Nolan Hill, MD Guest: Randi Hagerman, MD Diagnosis of the genetic disorder Fragile X syndrome can be devastating for our young patients and their families, knowing that both the patient and their elders can be affected by this condition. Should we expand current screening measures for Fragile X? As clinicians, how do we guide patients and their families through this process of understanding their diagnosis? Dr. Randi Hagerman, professor and endowed chair of Fragile X

00:00:00

Treating Fragile X Syndrome and Related Disorders

Genetics ·

2008/08/11

Host: Mark Nolan Hill, MD Guest: Randi Hagerman, MD We are rapidly learning more about the genetic disorder Fragile X syndrome, and a series of conditions related to Fragile X. We're also seeing great progress in promising therapies under investigation. How will these therapies, along with other treatment strategies, improve the lives of children and families affected by Fragile X and related conditions? Who should supervise care, and should treatment for children be coordinated

00:00:00

Understanding Fragile X Syndrome and Related Conditions

Genetics ·

2008/08/11

Host: Mark Nolan Hill, MD Guest: Randi Hagerman, MD It's responsible for more than five percent of all cases of autism, and it's the most common cause of inherited mental retardation. But are we as familiar as we need to be with Fragile X syndrome, and a series of genetic conditions related to Fragile X? Host Dr. Mark Nolan Hill welcomes Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental

00:00:00

Helping Patients Deal with the Psychosocial Issues of...

Genetics ·

2008/05/22

Guest: Robert Klitzman, MD Host: Maurice Pickard, MD Dr. Robert Klitzman, associate professor of clinical psychology at Columbia University, discusses how to prepare patients and their families to deal with the complex issues that arise in families that have inherited Huntington's disease. Join host Dr. Maurice Pickard for this important discussion.

00:00:00

Insulin Resistance & Colorectal Cancer

Genetics ·

2008/03/14

Guest: Andrew Flood, PhD Host: Gary Kohn, MD The risk association between diabetes and colorectal cancer: what is the mechanism driving the correlation? What methods are used to study the relationship? Dr. Andrew Flood, assistant professor of epidemiology, University of Minnesota, and adjunct investigator at the National Cancer Institute, Division of Cancer Epidemiology and Genetics discusses the relationship and his research with host Dr. Gary Kohn.

00:00:00

Enzyme Replacement Therapy for Hunter Syndrome

Genetics ·

2008/02/04

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show

00:00:00

Delayed Diagnosis of Hunter Syndrome

Genetics ·

2008/02/04

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome,

00:00:00

Hunter Syndrome: Can It Be Diagnosed Early?

Genetics ·

2008/02/04

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host

00:00:00

Searching for a Genetic Diagnosis for Rare Diseases:...

Genetics ·

2007/12/12

Host: Michael Greenberg, MD Guest: Hugh Rienhoff, MD Dr. Michael Greenberg speaks with Dr. Hugh Rienhoff about www.mydaughtersdna.org, a website he created to help children with rare or difficult-to-diagnose genetic diseases find proper diagnoses and help.

00:00:00

Retail Genomics

Genetics ·

2007/12/05

Guest: Thomas Goetz, MA, MPH Host: Larry Kaskel, MD One of the newest emerging healthcare ventures sells genome profiles. For $1000 and a saliva sample you can get a report describing your personal genome. In this segment host Larry Kaskel discusses with Thomas Goetz, deputy editor of Wired magazine, his recently published cover story on retail genomics.

00:00:00

Diagnosing and Treating CF: What is new?

Genetics ·

2007/11/21

Guest: Richard Moss, MD Host: Bill Rutenberg, MD Our guest Dr. Rick Moss discuses with host, Dr. Bill Rutenberg current modes of diagnosis, including the genetic basis of CF. This is followed by a discussion of current and future treatments for cystic fibrosis, including lung transplantation, stem cell and gene therapies.

00:00:00

Cystic Fibrosis: No Longer a Childhood Disease

Genetics ·

2007/11/21

Guest: Richard Moss, MD Host: Bill Rutenberg, MD No longer a disease of childhood, patients with cystic fibrosis are now living well into adult life. Dr. Moss discusses with host Dr. Bill Rutenberg about the current state of the art of treatment that has made long-term survival possible, new morbidities resulting from increased survival to financing health care for adults with cystic fibrosis and transitioning from pediatric to adult care.

00:00:00

Finding Predispositions to Serious Drug Reactions

Genetics ·

2007/10/18

Guest: Arthur Holden, MBA Host: Bruce Japsen A better understanding of why some people are predisposed to dangerous drug interactions and serious illness is the charge of the newly formed group, International Serious Adverse Event Consortium (SAE). The Chicago Tribune's Bruce Japsen interviews SAE chairman and chief executive officer, Arthur Holden about this important subject.

00:00:00

Pig to Human Islet Cell Transplants

Genetics ·

2007/10/09

Guest: Bernhard Hering, MD Host: Mark Nolan Hill, MD Islet Cell Transplantation is a promising treatment for diabetics however, if approved there will likely be a shortage of islet cells. Dr. Bernhard Hering shares his research with host Dr. Mark Nolan Hill about the use of pig tissue for human islet transplant.

00:00:00

Islet Cell Transplant for Diabetics

Genetics ·

2007/10/09

Guest: Bernhard Hering, MD Host: Mark Nolan Hill, MD In this segment, host Dr. Mark Nolan Hill speaks with Dr. Berhard Hering, international expert in islet cell transplants. Dr. Hering explains the promising new procedure offering diabetics the hope of being insulin free.

00:00:00

Psychosocial Interventions

Genetics ·

2007/10/04

Guest: Susan McDaniel, PhD Host: Leslie P. Lundt, MD Patients who test positive for a genetic condition often feel like a ticking time bomb. How can we best help individuals facing a genetic risk? Dr. Susan McDaniel, co-editor of “Individuals, Families, and the New Era of Genetics“ joins Dr. Leslie Lundt to discuss psychosocial strategies.

00:00:00

Genetic Testing Implications on the Family

Genetics ·

2007/10/04

Guest: Susan McDaniel, PhD Host: Leslie P. Lundt, MD The increasingly new science of genetic testing has potentially profound effects on not only the individual child, but the entire family system. Dr. Susan McDaniel joins Dr. Leslie Lundt to discuss the implications of such testing on the family.

00:00:00

Repurposing Pharmaceutical and Botanical Medicines...

Genetics ·

2007/09/25

Host: Bruce Bloom, DDS, JD Guest: David Teachey, MD Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his new research repurposing pharmaceutical and botanical medicines for diseases like Lupus and ALPS.

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Genetics

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