At the NSA we work closely with an experienced and highly skilled team of medical experts.
These medical practitioners work alongside our trustees and charity manager to ensure that applications for research on the syndrome are relevant to the condition and that money raised towards research is spent in the most beneficial way.
The team also advise us on the latest international research and developments in knowledge on the Rasopathy pathway so that we can disseminate this to our members. Members of the NSA have the opportunity annually to meet with representatives from the medical advisory group and to ask their questions directly at our informative Families for Families Day.
Unfortunately it isn’t possible for our medical advisers to answer specific questions from members about individual cases as every situation has to be considered in its own individual circumstances, and accurate support and advice cannot be provided without a full history and examination and access to medical records.
In the first instance, you and your doctors may find the current Noonan guidelines helpful. The guidelines can be accessed here:
We are currently working with our medical advisers to update these, and once complete, they will be available on the web-site. Your local Clinical Genetic Service is also a useful resource. Your doctors may also have access to the on-line textbook UpToDate; www.uptodate.com. The chapter on Noonan syndrome was written by two of our medical advisers.
Each year we are privileged to welcome our dedicated medical advisers to our Families day. On this day our team of experts, all with a specialist interest in the syndrome, will be available to our members. They will lead presentations, and really importantly each year they sit for a question and answer session. We have transcribed the questions and answers from our family’s days from 2015 to this year, and have categorised them according to topic. We hope that these FAQ will provide our families with some more information on the topics that we frequently get asked. However it is really important to remember that this information should not replace a specialist opinion from your own medical professional.
Meet Our Medical Advisers
Consultant in Clinical Genetics, St Mary’s Hospital, Manchester
Consultant Clinical Geneticist and Adviser to the Noonan Syndrome Association
Consultant Clinical Geneticist, St Mary’s Hospital, Manchester
Head of Lymphoedema Team, St George’s Hospital, London
Consultant in Dermatology and Lympho-vascular Medicine, St George’s Hospital
Consultant in Clinical Genetics, St George’s Hospital
Child and Adolescent Psychiatry, University of Manchester and Manchester Academic Health Sciences Centre
Consultant Paediatric Cardiologist/Honorary Senior Lecturer, Great Ormond Street Hospital
Consultant Cardiologist (Congenital Heart Disease), Bristol Heart Institute
Consultant Cardiologist, Royal Brompton & Harefield, London
Consultant Paediatrician, Great Ormond Street Hospital
Reader in Human Genetics, Institute of Molecular and Clinical Sciences, St George’s Hospital.
Clinical Senior Lecturer in Translational Child Psychiatry, University of Manchester