Hereditary Diseases Pod
13 episodes - English - Latest episode: almost 2 years ago -Hear the stories behind challenging cases in Australian practice. Join clinical experts as they discuss hereditary and often rare diseases and provide practical insights from their experiences to facilitate timely diagnosis and effective management.
Sanofi‐aventis australia pty ltd trading as Sanofi. ABN 31 008 558 807. Talavera Corporate Centre, Building D, 12‐24 Talavera Road, Macquarie Park, NSW 2113. MAT-AU-2200562. Date of Preparation March 2022. POM2200299
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Episodes
Detect the genetic cause: inherited muscular dystrophies & NMDs
September 07, 2022 00:14 - 11 minutes - 10.3 MBThe diagnostic challenge of muscular dystrophies and neuromuscular disorders in children often stems from the broad, nondescript nature of presenting symptoms. Join Associate Professor Andrew Kornberg, Senior Paediatric Neurologist at the Royal Children’s Hospital in Melbourne, as he explores the role of genetic testing in the diagnosis and management of hereditary muscular dystrophies and neuromuscular disorders in children, using real-world case studies. Abbreviations: NMD, neuromuscula...
Detect the genetic cause: inherited cardiac disorders
September 07, 2022 00:10 - 12 minutes - 11.7 MBInherited cardiac disorders often pose a considerable diagnostic challenge due to their broad clinical diversity and genetic heterogeneity. Join Professor Chris Semsarian AM, Genetic Cardiologist at the Royal Prince Alfred Hospital in Sydney, as he illustrates the merits of genetic testing in clinical cardiology practice. The views and opinions expressed in the presentation are solely those of Professor Semsarian AM and should not be attributed to any organisation with which the presenter...
Detect the genetic cause (Part 1): inherited cardiac disorders
August 24, 2021 03:18 - 13 minutes - 12 MBInherited cardiac disorders often pose a considerable diagnostic challenge due to their broad clinical diversity and genetic heterogeneity. Join Professor Chris Semsarian AM, Genetic Cardiologist at the Royal Prince Alfred Hospital in Sydney, as he illustrates the merits of genetic testing in clinical cardiology practice. For more information about Detect genetic testing panels, please visit https://sanofigenzymeonline.com.au/detect The views and opinions expressed in the presentation...
Detect the genetic cause (Part 2): inherited muscular dystrophies & NMDs
August 24, 2021 03:18 - 11 minutes - 10.8 MBThe diagnostic challenge of muscular dystrophies and neuromuscular disorders in children often stems from the broad, nondescript nature of presenting symptoms. Join Associate Professor Andrew Kornberg, Senior Paediatric Neurologist at the Royal Children’s Hospital in Melbourne, as he explores the role of genetic testing in the diagnosis and management of hereditary muscular dystrophies and neuromuscular disorders in children, using real-world case studies. For more information about Detec...
Is it Pompe Disease? Exploring Australian cases (Part 3)
February 17, 2021 01:08 - 8 minutes - 7.76 MBPompe disease is a rare but treatable neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join Professor Merrilee Needham (Neurologist, Fiona Stanley Hospital & Perron Institute, Perth), co-author of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, as she explores Pompe disease red flags and diagnostic challenges using Australian case studies. This episode follows the diagnostic path of a patient with respiratory involvement. Reference...
Is it Pompe Disease? Exploring Australian cases (Part 2)
February 17, 2021 00:52 - 7 minutes - 6.78 MBPompe disease is a rare but treatable neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join Professor Merrilee Needham (Neurologist, Fiona Stanley Hospital & Perron Institute, Perth), co-author of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, as she explores Pompe disease red flags and diagnostic challenges using Australian case studies. This episode follows the diagnostic work-up of a patient with chronic elevated creatine kinase ...
Is it Pompe Disease? Exploring Australian cases (Part 1)
February 16, 2021 22:52 - 8 minutes - 7.85 MBPompe disease is a rare but treatable neuromuscular disease with a wide spectrum of symptoms and a challenging diagnosis. Join Professor Merrilee Needham (Neurologist, Fiona Stanley Hospital & Perron Institute, Perth), co-author of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, as she explores Pompe disease red flags and diagnostic challenges using Australian case studies. This episode illustrates the non-specific signs and symptoms that can delay diagnosis in a...
Is it Pompe disease? Case studies and management (Part 3)
October 19, 2020 00:28 - 17 minutes - 23.6 MBPompe disease is a rare neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join co-authors of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, Associate Professor Robert Henderson (Neurologist, Royal Brisbane and Women’s Hospital, Brisbane) and Associate Professor Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital, Melbourne) as they present two case studies from their practice and discuss the management of Pompe disease...
Is it Pompe disease? Investigation and diagnosis (Part 2)
October 18, 2020 21:53 - 22 minutes - 31 MBPompe disease is a rare neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join co-authors of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, Associate Professor Robert Henderson (Neurologist, Royal Brisbane and Women’s Hospital, Brisbane) and Associate Professor Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital, Melbourne) as they explore the practical aspects of diagnosing Pompe disease, including the clinical assess...
Is it Pompe disease? Introduction to Pompe disease (Part 1)
October 18, 2020 21:31 - 18 minutes - 25.2 MBPompe disease is a rare neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join co-authors of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, Associate Professor Robert Henderson (Neurologist, Royal Brisbane and Women’s Hospital, Brisbane) and Associate Professor Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital, Melbourne) as they review the early signs and symptoms of Pompe disease and how they can be investigated. ...
Fabry disease in Australia part 2: the local experience
January 29, 2020 21:26 - 13 minutes - 31.5 MBIn part two, Associate Professors Andrew Kornberg and Carolyn Ellaway review the considerations for managing Fabry disease in Australia and provide practical guidance on diagnosis and treatment, including the steps required for screening and referring to specialist centres. Intended for healthcare professional audiences. For more information about diagnostic testing, please visit sanofigenzymeonline.com.au/diagnostics The Fabry association mentioned in this podcast is Fabry Australia. Mo...
Fabry disease in Australia part 3: a patient’s story
January 17, 2020 00:33 - 19 minutes - 43.9 MBIn the concluding episode, Associate Professor Carolyn Ellaway evaluates the management of Fabry disease in Australia from her patient’s perspective, reviewing their journey from mystery illness to treatable disease. Intended for healthcare professional audiences. For more information about diagnostic testing, please visit sanofigenzymeonline.com.au/diagnostics See episode website for full notes, including references & legal information. The views and opinions expressed in the present...
Fabry disease in Australia part 1: what is Fabry disease?
January 14, 2020 03:07 - 24 minutes - 56.1 MBFabry disease is a rare genetic metabolic disease with a challenging clinical presentation. Associate Professors Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital Melbourne) and Carolyn Ellaway (Paediatrician, Clinical Geneticist and Metabolic Physician, Sydney Children’s Hospital Network) discuss the signs of Fabry disease, the importance of early diagnosis and how it can be treated. Intended for healthcare professionals. For more information about diagnostic testing, ple...