RASopathies Network UK News Post

~international~ Rare Repurposing Open Call

The rare repurposing open call is a collaborative project between Findacure, Cures Within Reach, and Healx. We are searching for existing drug repurposing ideas for rare diseases that have yet to receive a full clinical trial. Our primary aim is to demonstrate the huge potential of clinic-led, patient group-led, and researcher-driven innovation in drug repurposing for rare diseases, and the need for new funding streams to help these ideas bridge the translational gap, including Findacure’s Rare Disease Drug Repurposing Social impact Bond (RDDR SIB).

For more information: http://www.findacure.org.uk/open-call/




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6th International Meeting on Rare Disorders of the RAS-MAPK Pathway
A workshop preceding the 2016 ESHG meeting, Barcelona

Friday, May 20, 2016, 1 pm to Saturday, May 21, 2016, 2 pm
HOTEL BARCELONA PRINCESS, Avinguda Diagonal 1, 08019 Barcelona, Spain

Organisers: Bronwyn Kerr, Marco Tartaglia, Martin Zenker

Contacts: bronwyn.kerr@cmft.nhs.ukmarco.tartaglia@opbg.net, martin.zenker@med.ovgu.de

Registration limit: 100 participants
Registration cost:
* 100 € (including buffet dinner on May 20)
* students 50 €

Fifteen years after the discovery of the first gene for Noonan syndrome, RASopathy research is relentlessly producing exciting new insights into molecular and clinical aspects of this important group of genetic disorders. Following a tradition that started in Barcelona in 2009, we announce the 6th International Meeting on Rare Disorders of the RAS-MAPK Pathway in Barcelona in May 2016. The mission of this workshop is to bring together researchers from various fields as well as clinicians and family support groups, to provide a timely update about recent achievements, to discuss and coordinate ongoing research activities, and to set milestones for improved patient management and care.

Major Topics:
• New genes, new phenotypes, and genotype phenotype correlations
• Cancer risk in RASopathies
• Mosaic RASopathies
• Molecular mechanisms
• RASopathy modeling & treatment
• RASopathy support group activities

Conference Program here

Conference Registration form here

RASopathies Case Presentation form here


Noonan Syndrome Association presents Families for Families Day
Saturday,  26 April, 2016
The Hilton Birmingham Metropole Hotel
National Exhibition Centre
Birmingham B40 1PP

Registration desk opens at 09.15 and closes by 16.00 at the latest. Speakers include  Chairman Ian Legg, Judith Van De Meerakker, Professors Bronwyn Kerr, Sahar Mansour, Jonathan Green and Michael Patton, Drs. Juan Pablo Kaski, Vin Diwaker, Shruti Garg, Pia Ostergaard.  Also Education Questions answered by Staffordshire SEND Family Partnership, and break-out group sessions.

Click here for programme
Click here for registration form




5th International Meeting on Rare Disorders of the RAS-MAPK Pathway
A workshop preceding the 2014 ESHG meeting, Milan

May 30th, 2014

Organisers: Bronwyn Kerr, Marco Tartaglia, Martin Zenker.
Contacts for enquiries or registration: bronwyn.kerr@cmft.nhs.uk, marco.tartaglia@iss.it,

Registration limit: 100 participants
Registration cost: 50 € (dinner included)
Location: UNA Hotel Scandinavia, Via G.B. Fauché, 15 – 20154 Milan
(Metro Sempione Arona -Tram 1)

2014 Meeting on RASopathies Program


Steph and Daisy Nimmo (CS) are featured in an article for Rare Disease Day (28 February).  Follow this link to the article, How our daughter benefits when rare disease groups collaborate, by Stepanie Nimmo, February 19, 2014, Special Needs Jungle.


[more information to come]

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