Association of Genetic Therapy, z.s. is a voluntary organization of patients and professionals whose aim is to support the research on potential treatment of rare genetic disorders such as Angelman syndrome (AS). We bring together experts, public, families and organizations to find the ways of financing research in the area of rare diseases. The research has been started and is led by a member of our scientific board – Assoc. prof. Radislav Sedláček, PhD. - Director of the Czech Center for Phenogenomics.
This research has the potential to discover functioning mechanisms of many more related conditions such as Autism, Rett syndrome, Prader-Willi syndrome and Alzheimer. We want to bridge the medical findings from human genetics of real patients with the basic research on mouse models to accelerate research by making more accurate research models and bring practical treatment of the genetic diseases into the medical practice as quickly as possible.
The Association of Genetic Therapy, z.s. was founded in July 2018 after our son was diagnosed Angelman syndrome. This rare genetic disorder (about 50 patients in the Czechia and Slovakia) is causing mental retardation, absent of speech, lagging in motor skills, epilepsy and other unpleasant symptoms. People with AS are during whole life dependent on the help of others. This condition is caused by fault in DNA on the 15th chromosome. We initiated basic research on potential treatment of this syndrome in the Czech Republic.