Student News

Angelman Syndrome Alliance call to research January 2016.

MORE THAN 300 000 EUROS FOR RESEARCH ON ANGELMAN SYNDROME

Call for Applications for Research Grants on  Angelman Syndrome

Call will be open between the 25th November 2015 and the 24th of January 2016

The Angelman Syndrome Alliance (ASA) supports research on Angelman syndrome with up to 300 000 Euros to be awarded at the next International Angelman Syndrome Scientific Conference. The Angelman Syndrome Alliance is (currently) an initiative of the following parent organisations: AVO (Austria), ASB (Belgium), ASFA (France), Angelman e.V. (Germany), AIA (Ireland), Israeli Angelman Syndrome Foundation (Israel), ORSA (Italy), PWAV (Netherlands), Angel (Portugal), ASSERT (United Kingdom), and the Nina Foundation (consortium organization on AS science). Their mutual aim is to join forces and funds to increase the financial support of dedicated research projects and thereby intensify research on Angelman Syndrome.

Angelman Syndrome is a genetic disorder resulting from a loss of function of the UBE3A gene which encodes the ubiquitin E3 ligase E6AP. Angelman Syndrome is characterised by severe intellectual disability, lack of speech, motor coordination deficits, sleep disturbance, and usually a happy demeanour.

Researchers of any country are invited to apply for research grants covering preclinical (basic) research as well as translational research such as mechanism-based controlled trials. Applications for behavioural therapies are not eligible at this point.
Proposals addressing new ideas/concepts about the pathogenesis of Angelman Syndrome are particularly invited.
The duration of the grant is flexible, but the maximum is 4 years. There will be an evaluation by the SAB of the project after completion of 50% of the total time and at the end. Every 6 month interim reports are to be sent to Faustine Bourgoin in simple language (lay version) with supporting pictures to inform the parent organisations in more general terms about the project progress.

The application procedure is two-step:
1. First, a short application has to be submitted on the ASA website : CLICK HERE (Deadline 24th of January 2016);
2. A maximum of 10 applicants will be selected for step 2 will be informed by end of February 2016. Selected applicants will then be invited to submit a detailed application by 3rd of May 2016.
3. 1 – 2 applicants will be awarded a grant at the bi-annual meeting of the Angelman Syndrome Alliance on the 30th of September 2016 in Portugal.
4. Via uploading their documents, the applicants accept the terms and conditions of the ASA contract (available on the website). The awardees will be expected to give the ASA-AWARD LECTURE at the beginning and the end of the project.

The short application (step 1) should include the following:
1. Cover letter including the title of the proposal and the name of the principal investigator
2. Two-page summary of the proposed research including paragraphs on the hypothesis, background, research plan, principal methodology, and the significance of the proposed research. An overview of the budget must also be included (indirect costs cannot be applied for).
3. Curriculum vitae of the applicant

All applications should be written in English language using Times New Roman, 10 point, 1.5 spaced.
Proposals involving laboratory animal testing must be approved by the respective institutional review boards before funding can be released.
All proposals, including cover letters, should be uploaded at the ASA website: angelmanalliance.org

à Questions about the grant application procedure and about the contract should be directed to the NINA Foundation at: martijn.van.steensel@ninafoundation.eu
à Questions about research on Angelman Syndrome should be directed to: harald.sitte@meduniwien.ac.at
à All general questions should be directed to: faustine.bourgoin@angelman-afsa.org

Betty Willemsen and Martijn van Steensel are part of the scientific AS organization named ‘Nina Foundation’ (NF) which is organising the call on behalf of the Angelman Syndrome Alliance (ASA). Harald Sitte (MedUni Vienna) is the chairman of the ASA Scientific Advisory Board (SAB); further members are Lidia Larizza (Univ. Milan) and Martin Scheffner (Univ. Konstanz). Faustine Bourgoin is part of AFSA, the French AS parent organization, and supports ASA and SAB with communication and tender process matters.

Glossery of scientific terms – new for 2016

Having recently sat in on a number of scientific presentations we thought it might be useful to include a new post on explaining terms. This is something we will update on a regular basis and thank Annette Kent for preparing them. Annette has come on board to support us in the area of science and research.

A target is an entity e.g. protein, gene, structure in the body that can be altered negatively or positively for the treatment of a condition/illness. The change in the target may correct the error or alleviate the problem associated with the condition/illness. Novel targets are those are being researched and have the potential to be used in future treatments.

Rescue drugs are those that used when a condition occasionally gets worse i.e. becomes acute. These medicines are not taken routinely or every day.

Orphan drugs are drugs that deemed suitable for treating very rare diseases also called orphan diseases. Orphan diseases are those that affect a small percentage of the population. These rare disease are usually genetic and present for the person’s entire life.

Proteins are very important compounds in the body and are responsible for doing a lot of the work in the cells of the body including regulating the cells activities, providing structure and functions within cells and organs of the body.

 

 

 

RTE radio 1 documentary An Angelman Year.

June 20th RTE Radio 1  – An Angelman Year.

 

Parent Conference Dublin July 20th Video sessions.

 

Angelman Syndrome Ireland Parent workshop  July 2013 video sessions  are available to view via Youtube on our home page.

Speakers sesssions:

  • Heather Lynch Director of Camphill Communities in Ireland.
  • Prof Ben Philpot, from the University of North Carolina US
  • Heather J E Crawford MBE, AHP Manager for Children’s Services/ Lead Professional for Speech & Language Therapy South Eastern Trust. NI