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Webcast OnDemand
Broadcast October 15, 2020
The management of Noonan syndrome from early diagnosis to optimal therapeutic response to growth hormone
A 90-minute interactive session featuring Martin Savage, Jovanna Dahlgren, Jos Draaisma, and Emma Burkitt-Wright as they discuss clinical awareness and burden, early diagnosis using next generation sequencing, and growth hormone therapy for Noonan syndrome.
The webcast is available in 7 languages: French, Spanish, Italian, German, Portuguese, Standard Chinese, Japanese.
Please select your preferred language below.
This webcast is suitable for, but not limited to, global pediatric endocrinologists, pediatricians and pediatric cardiologists.
Program
| Time | Topic | Faculty |
|---|---|---|
|
16:30 |
Introduction |
Martin Savage |
|
16:35 |
Clinical awareness of Noonan syndrome in the context of short stature patients |
Martin Savage |
|
16:45 |
The clinical burden of Noonan syndrome in the untreated state |
Jos Draaisma |
|
17:05 |
Early genetic diagnosis in Noonan and related syndromes |
Emma Burkitt Wright |
|
17:25 |
Growth hormone therapy in Noonan syndrome: challenges and long-term outcome |
Jovanna Dahlgren |
|
17:45 |
Q & A and discussion |
All |
Faculty
Martin Savage (Chair – UK)
Emeritus Professor of Paediatric Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, UK
Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry in London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He is a clinician with clinical and research interests in growth disorders, specifically those with abnormalities in the growth hormone-IGF-1 axis. His main research field has been the phenotype:genotype relationships of GH-IGF-1 axis defects. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996.
His other clinical interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. Professor Savage has lectured in 59 countries world-wide and has published over 440 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. He continues to lecture nationally and internationally.
Disclosures
Professor Savage had consultancy agreements with Ipsen, Sandoz, Merck KGaA, Darmstadt, OPKO, and Genexine-Handok. He received honoraria for lectures from GeneScience and Novo Nordisk.
Jovanna Dahlgren
Professor, Department of Pediatrics, University of Gothenburg, Sweden
Jovanna Dahlgren is an expert in pediatric endocrinology, rare diseases and obesity. She is also director of the Department of Paediatrics at the University of Gothenburg and senior consultant at Queen Silvia Children’s Hospital. A Professor and MD, Dahglren is responsible for the Swedish National GH Registry and part of the steering committee of the National Centre of Competence for Rare Diseases. Her scientific field is in perinatal programming of endocrine homeostasis, growth disorders in children born SGA, preterm or with rare diseases and obesity.
Professor Dahlgren has published 110 peer-reviewed scientific works and several book chapters. She has supervised seven PhDs to dissertations in Gothenburg and at Karolinska Institute and currently has eight PhD students. She is principal investigator for the Gothenburg arm of the AMOS studies evaluating the benefit of gastric bypass surgery in adolescents.
Disclosures
Professor Dahlgren has received grants/research support from Novo Nordisk and Pfizer. She has also received honoraria or consultation fees from Novo Nordisk, Pfizer, Sandoz, Merck and Ipsen.
Jos Draaisma
Associate Professor, Radboudumc Amalia Children’s Hospital, The Netherlands
Dr Jos Draaisma trained as a paediatrician, and then as a paediatric cardiologist, in the Radboudumc, Nijmegen, The Netherlands. From 1992 till 2002 he worked as general paeditrician/paediatric cardiologist in the St. Elisabeth hospital in Tilburg, The Netherlands. Since then he has worked as a general paediatrician/developmental and genetic paediatrician. His main focus is on the Noonan syndrome (genetype/phenotype relations, lymphatics and patient involvement) and secondary osteoporosis.
Disclosures
Dr Draaisma has received honoraria or consultation fees from Novo Nordisk A/S.
Emma Burkitt Wright
Consultant Clinical Geneticist and Honorary Senior Lecturer, Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, UK
Emma Burkitt Wright is a consultant clinical geneticist in the Manchester Centre for Genomic Medicine, and honorary senior lecturer at the University of Manchester. Her PhD on germline disorders of the Ras-MAPK pathway, funded by a Wellcome Trust clinical research training fellowship, was awarded in 2014. The majority of her clinical commitments revolve around Ras-MAPK pathway disorders, both within her clinic for patients with Noonan, Costello and cardiofaciocutaneous syndromes and the multidisciplinary NHS nationally commissioned highly specialised service for patients with complex neurofibromatosis type I based in Manchester. Dr Burkitt Wright also has clinical interests in the genomics of deafness and aortopathy.
Disclosures
Emma Burkitt Wright has received honoraria from Novo Nordisk for involvement in a steering group regarding use of GH in Noonan syndrome, and provision of an educational seminar. She is also part of a European Medical Education Initiative about Noonan syndrome, administered by Physicians World Europe via an unrestricted grant from Novo Nordisk.
Learning Objectives
After participating in the webinar, learners will be able to:
- Demonstrate awareness of Noonan syndrome
- Explain the clinical burden of Noonan syndrome and related disorders in the untreated state
- Apply Sanger and genetic sequencing in the early diagnosis of Noonan syndrome
- Interpret clinical trial data and evidence (from outside of Europe) showing the impact of growth hormone therapy on improvement in clinical outcomes in short stature in patients diagnosed with Noonan syndrome
Translations
The webcast is available in the following languages: German, Spanish, French, Italian, Portuguese, Japanese, and Chinese (simplified).
Accreditation
Although the live event was accredited, this does not extend to the webcast.
Accreditation no longer available
