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