Rare Diseases Medical Conversation COR2ED Medical Education

Comprehensive biochemical and genetic testing allows for the identification of classical and non-classical forms of primary IGF-I deficiency and can identify overlapping syndromes. Are you updated on the treatment for patients with severe primary IGF-I deficiency? Listen as expert pediatric endocrinologists delve into this rare growth disorder.
Join Prof. Helen Storr (Professor and Honorary Consultant in Paediatric Endocrinology at Queen Mary University, London and Barts Health Trust, London, UK) and Prof. Andrew Dauber (Chief of Endocrinology, Children's National Hospital. Washington, DC, USA) as they engage in a conversation about the diagnosis and management of patients with severe primary IGF-I deficiency. This is the second video podcast episode in a two-part series on patients with severe short stature.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/severe-primary-igfi-deficiency/
Or go to the video on YouTube: https://youtu.be/7sNGzJRzv7g

This Podcast is endorsed by the Magic Foundation.Find out more on their website: https://www.magicfoundation.org/

The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com

Do you know how to differentiate between growth hormone deficiency (or GHD) and primary IGF-I deficiency (or growth hormone resistance) and the key challenges in the diagnosis and management of patients with short stature conditions?
For children presenting with short stature, an early and correct diagnosis is essential to allow children to achieve their full growth potential with appropriate treatment. Listen as expert pediatric endocrinologists delve into these rare growth disorders.
Join Prof. Philippe Backeljauw (Professor at Cincinnati Children's Hospital Medical Center and the University of Cincinnati, Cincinnati, USA) and Prof. Dr. Joachim Woelfle (Chairman of Pediatrics, Director of the Department of Pediatric and Adolescent Medicine at the Friedrich Alexander University Erlangen, Germany) as they engage in a conversation regarding key challenges in the diagnosis and management of patients with short stature conditions.
The experts discuss the incidence of patients with GHD and severe primary IGF-I deficiency and how to differentiate these conditions based on clinical presentation as well as biochemical and genetic testing. The importance of taking a good medical history and physical examination is discussed, as well as various caveats related to biochemical and genetic testing. Regional differences in the diagnosis of these patients are covered as well as key challenges in the diagnosis and management. Finally, the experts discuss the different treatment options as well as the importance of ensuring caregivers are well-informed regarding the efficacy and safety of the respective treatments.
This is the first video podcast episode in a two-part series on patients with severe short stature.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/rare-growth-disorders-podcast/
Or go to the video on YouTube:
https://youtu.be/OfI3lZgjew0  

This Podcast is endorsed by the Magic Foundation. Find out more on their website: https://www.magicfoundation.org/

The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com

Gene therapy and gene-modified cell therapies have a great potential for rare diseases to either help patients to cure their disease or improve their lives. Did you know that gene therapy will probably become a major treatment option for many rare diseases in the near future? Listen as expert hematologists delve into this topic and take hemophilia as a practical example.
Join Prof. Cédric Hermans (Head of the Division of Haematology, the Hemostasis and Thrombosis Unit and the Hemophilia Center of the Saint-Luc University Hospital in Brussels, Belgium) and Prof. Miguel Escobar (Professor of Medicine and Pediatrics, University of Texas Health Science Center at Houston-McGovern Medical School and University of Texas M.D. Anderson Cancer Center Medical Director, Gulf States Hemophilia & Thrombophilia Center Houston, USA) as they engage in a conversation about the potential of gene and gene-modified cell therapies in rare diseases, and how early gene therapies have been implemented as a treatment approach for rare diseases, such as leber congenital amaurosis, spinal muscular atrophy, beta-thalassemia, adrenoleukodystrophy, and hemophilia.
The experts explore hemophilia as an example of how gene therapy has become a reality within rare diseases. They discuss why we need gene therapy for rare disease, what gene therapy and gene modified cell therapy is, and how this has become a reality in hemophilia, and look to the future of gene therapy for rare diseases. Finally they reflect on the importance of a multidisciplinary approach.
- Access information on the programme, the clinical takeaways, the flashcard and the transcript here https://cor2ed.com/hemostasis-connect/programmes/gene-therapy-rare-diseases/
Find out about the experts Prof Cedric Hermans and Prof. Miguel Escobar. 
The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from The American Society of Gene + Cell Therapy and Pfizer.

Robert Mitchell-Thain, CEO of the PBC Foundation, Edinburgh, UK and Kath Houghton, Autoimmune Specialist Nurse, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK, discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast.
Their discussion covers the relationship between initial symptoms and disease trajectory, the association of biochemical control and outcomes in PBC, and the impact and assessment of patient reported outcomes.

Prof. Gideon Hirschfield, Professor of Medicine, Division of Gastroenterology, University of Toronto, Canada and Dr Emma Culver, Consultant Hepatologist and Honorary Senior Lecturer at the John Radcliffe Hospital and University of Oxford, UK discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast.
Their discussion focuses on cancer risk associated with PBC; liver stiffness and prognosis; and outcomes and response prediction in second-line therapy.

In this podcast, Prof. Martyn Caplin and Dr Aman Chauhan discuss the role of somatostatin analogues (SSAs) at progression and whether to continue or not. In patients with well-differentiated Grade 1/2 neuroendocrine tumours (NETs) and slowly progressive asymptomatic disease, potential strategies for continuing SSA at progression include increasing the SSA dose frequency from every four to every two weeks, increasing the monthly SSA dose, using SSA as maintenance therapy in stable patients unable to tolerate chemotherapy, and—in patients receiving peptide receptor radionuclide therapy (PRRT)—during and/or post PRRT.
They share their clinical experience and their own clinical practice, based on data from key studies including NETTER-1, CLARINET FORTE, and REMINET, as well as relevant retrospective analyses. Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, London, UK. Dr Aman Chauhan is a Medical Oncologist and Director of NET Theranostics at the University of Kentucky Markey Cancer Center, Kentucky, USA.