Hereditary Diseases Pod

About Hereditary Diseases Pod

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.

Category

health & fitness

Language

en

Explicit

No

First episode

16 Nov 2023

Latest episode

10 Jan 2024

Latest episodes

11 episodes in the feed.

1. 

   10 Jan 2024

   Fabry disease in Australia: A patient’s story (Episode 3 of 3)

   In 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 bit.ly/test-for-fabry (https://bit.ly/test-for-fabry). See episode website for full notes, including references & legal information. The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. 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-2102516-1.0. Date of preparation October 2023. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

2. 

   10 Jan 2024

   Detect the genetic cause: Inherited muscular dystrophies and NMDs (Episode 2 of 2)

   The 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, neuromuscular disorder. The views and opinions expressed in the presentation are solely those of Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Associate Professor Kornberg received honoraria from Sanofi. 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-2202522-1.0. Date of preparation August 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

3. 

   10 Jan 2024

   Detect the genetic cause: Inherited cardiac disorders (Episode 1 of 2)

   Inherited 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 is employed or affiliated and are not necessarily the views of Sanofi. Professor Semsarian AM did not receive honoraria from Sanofi. 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-2202522-1.0. Date of preparation August 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

4. 

   10 Jan 2024

   Fabry disease in Australia: The local experience (Episode 2 of 3)

   In 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 bit.ly/test-for-fabry (https://bit.ly/test-for-fabry). The Fabry association mentioned in this podcast is Fabry Australia. More information about this not-for-profit can be found at fabry.com.au (https://www.fabry.com.au/). The list of Fabry disease clinics in Australia can be found on the Fabry Australia website: Adult Fabry clinics (https://www.fabry.com.au/adult-clinics/) Paediatric Fabry clinics (https://www.fabry.com.au/paediatric-clinics/) Please note that patients from Tasmania are referred to Royal Melbourne Hospital, patients from Darwin are referred to Brisbane hospitals and patients from Alice Springs are referred to Royal Adelaide Hospital. Reference: Ellaway C. Transl Pediatr 2016;5( 1):37-42. The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. 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-2102516-1.0. Date of preparation October 2023. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

5. 

   10 Jan 2024

   Fabry disease in Australia: What is Fabry disease? (Episode 1 of 3)

   Fabry 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, please visit bit.ly/test-for-fabry (https://bit.ly/test-for-fabry). References: Schiffmann R. Pharmacol Ther 2009;122:65–77. Schiffmann R and Ries M. Pediatr Neurol 2016;64:10e20. Laney DA et al. Genet Med 2015;17(5):323–30. Sims K et al. Stroke 2009;40:788–94. Hopkin RJ et al. Mol Genet Metab 2016;117(2):104–13. Tøndel C et al. J Am Soc Nephrol 2013;24(1):137–48. Skrunes R et al. Clin J Am Soc Nephrol 2017;12(9):1470–9. The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. 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-2102516-1.0. Date of preparation October 2023. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

6. 

   10 Jan 2024

   Is it Pompe disease? Case studies and management (Episode 3 of 3)

   Pompe 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. Reference: Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99. The views and opinions expressed in the presentation are solely those of Associate Professor Kornberg and Associate Professor Henderson and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Associate Professor Kornberg and Associate Professor Henderson received honoraria from Sanofi. 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-2200562-1.0. Prepared March 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

7. 

   10 Jan 2024

   Is it Pompe disease? Investigation and diagnosis (Episode 2 of 3)

   Pompe 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 assessment, differential diagnosis and testing. References: Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99. O’Callaghan C et al. Adult-onset Pompe’s disease presenting with insidious hypercapnic respiratory failure Respirol Case Rep 2016; 4(5): e00178. The views and opinions expressed in the presentation are solely those of Associate Professor Kornberg and Associate Professor Henderson and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi Associate Professor Kornberg and Associate Professor Henderson received honoraria from Sanofi. 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-2200562-1.0. Date of Preparation March 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

8. 

   10 Jan 2024

   Is it Pompe disease? Introduction to Pompe disease (Episode 1 of 3)

   Pompe 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. References: Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99. Kishnani PS et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148(5): 671–6. Hirschhorn R and Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001; 3389–420. Gutierrez-Rivas E et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015; 25 (7): 548–5. The views and opinions expressed in the presentation are solely those of Associate Professor Kornberg and Associate Professor Henderson and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Associate Professor Kornberg and Associate Professor Henderson received honoraria from Sanofi. 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-2200562-1.0. Date of Preparation March 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

9. 

   16 Nov 2023

   Is it Pompe disease? Exploring Australian cases (Episode 1 of 3). Progressive limb-girdle muscle weakness.

   Pompe 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 patient with limb-girdle weakness. References: Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders 2020; 30: 389–99 Lin et al Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. J Inherit Metab Dis 1987;10:11–7 Kishnani PS et al, on behalf of the Pompe Registry Boards of Advisors. 2013. Timing of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Am J Med Genet Part A 161A:2431–2443. For more information about testing for Pompe disease, please visit bit.ly/sanofi-pompe-test (http://www.bit.ly/sanofi-pompe-test). Abbreviations: EMG, electromyography; CK, creatine kinase; LEMS, Lambert Eaton Myasthenic Syndrome The views and opinions expressed in the presentation are solely those of Professor Merrilee Needham and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Professor Needham received honoraria from Sanofi. 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-2002392. Prepared December 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

10. 

    16 Nov 2023

    Is it Pompe disease? Exploring Australian cases (Episode 2 of 3). Unexplained, chronic hyperCKaemia.

    Pompe 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 (hyperCKaemia). References: Tchan M et al. Neuromuscular Disorders 2020; 30: 389–99 Lukacs Z et al. Neurology 2016; 87:295–8 Ausems MG et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52:851–3 For more information about testing for Pompe disease, please visit bit.ly/sanofi-pompe-test (http://www.bit.ly/sanofi-pompe-test). Abbreviations: EMG, electromyography; CK, creatine kinase; MLPA, multiplex ligation dependent probe amplification The views and opinions expressed in the presentation are solely those of Professor Merrilee Needham and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Professor Needham received honoraria from Sanofi. 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-2002396. Prepared December 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

11. 

    16 Nov 2023

    Is it Pompe disease? Exploring Australian cases (Episode 3 of 3). Severe respiratory weakness resulting in ICU admission.

    Pompe 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. References: Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders 2020; 30: 389–99. Schuller A et al. American Journal Medical Genetics Clinical Seminars Medical Genetics 2012;160C:80–8. Ausems MG et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52:851–3. For more information about testing for Pompe disease, please visit bit.ly/sanofi-pompe-test (http://www.bit.ly/sanofi-pompe-test). Abbreviations: EMG, electromyography; CK, creatine kinase The views and opinions expressed in the presentation are solely those of Professor Merrilee Needham and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Professor Needham received honoraria from Sanofi. 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-2002398. Prepared December 2022. See omnystudio.com/listener (https://omnystudio.com/listener) for privacy information.

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