On September 10th 2010, we will be launching a new network in the UK, the RASopathies Network. The launch is being held at the house of Lords in front of an invited audience of health professionals, and families effected by one of the syndromes that make up this class of genetic disorders. So what are ‘RASopathies’.
Recently a class of developmental syndromes, the ‘RASopathies’, is caused by germline mutations in genes that encode protein components of the critical signal transduction cascade, the Ras/mitogen activated protein kinase (MAPK) pathway. At present, these syndromes include:-
- Noonan syndrome
- LEOPARD syndrome
- Hereditary Gingival fibromatosis
- Capillary malformation-AV malformation syndrome
- Neurofibromatosis type 1
- Legius syndrome
- Costello syndrom
- Cardio-facio-cutaneous syndrome
- Autoimmune lymphoproliferative syndrome
The Ras/MAPK pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development. Therefore, it is not surprising that its dysregulation has profound effects on development. Each syndrome is this calls of developmental syndromes, exhibits unique phenotypic features, however, since they all cause dysregulation of the Ras/MAPK pathway, there are numerous overlapping phenotypic features among the syndromes, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies.
Dr. Kate Rauen
UCSF
June 28, 2009
That is a LOT of syndromes, and collectively around 1 in 1000 people will be effected by one of these syndromes.
Understanding this pathway is very important for the simple reason that through the understanding of the RASopathies provide a valuable insight into normal human development, including many aspects, of Cancer, and other human disorders .
We need your donations which will be used to develop the new RASopathies network, a long term aim is to develop a research trust, but to do so we need your help, please make a donation to the International Costello Support group who are one of the lead organisations working to build this unprecedented network. all donations no matter how small, will help.
It is easy to donate, and any donation cab be gift aided to us, making your donation worth 20% more then you give.
Thank you
Visit the following links for more information
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743116/
http://www3.interscience.wiley.com/journal/123210941/abstract?CRETRY=1&SRETRY=0
Noonan International
CFC International
The Neurofibromatosis Association
