We founded the association with my husband in 2018 after our son was diagnosed with Angelman syndrome (AS). It is a rare genetic disease (in the Czech Republic and Slovakia about 50 patients) which causes mental retardation, deficiency in motor skills, absence of speech and other unpleasant symptoms. People with AS are dependent on others for life.
“Every day we learn something new from our Oliver. We are grateful to him for the inspiration to this project. “
Right in the first year, we managed to fulfil the main objective of the organization – start of research on this syndrome in the Czech Republic, which has the potential to find a mechanisms that should help treat not only Angelman syndrome but also other not only genetic diseases.
“Without genetics we can look at life with one eye. We are fortunate to live at time when mankind finally sees the both. “
The main mission of the Association is:
– Financially support science and research of rare diseases;
– Joining experts, scientists, doctors and parents;
– Raise awareness on rare diseases with cooperation with scientific and patient organisations;
– Sharing everyday family life with rare desease child (child with Angelman syndrome #EverydayLifeWithAngel).
We approached experts who got interested in our idea. They see it as meaningful and are dedicated to move the boundaries in this area.
We support the scientists from Czech Centre for Phenogenomics hosted by the Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i. .
We are sure that his research will come up with new discoveries which will help and inspire both professional research as well as public.
On this web you can see the news about the research and our insights from life with angelman Oliver.
TechSoup Česká republika offers a range of services to help your nonprofit better implement and manage your technology. From emergency tech support to strategic planning to fully managed IT services, our offerings are designed to meet the needs of all types of organizations.
Česká asociace pro vzácná onemocnění (zkratka ČAVO) vznikla v březnu roku 2012. Posláním ČAVO je sdružovat organizace pacientů se vzácnými onemocněními i jednotlivé pacienty, zastupovat jejich zájmy a posilovat povědomí o specifické problematice vzácných onemocnění mezi odborníky ve zdravotnictví, představiteli státních i mezinárodních institucí a veřejnosti.
The Global Alliance for Genomics and Health (GA4GH) is an international, nonprofit alliance formed in 2013 to accelerate the potential of research and medicine to advance human health. Bringing together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is working together to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data.
Academy of Patient Organizations (APO) is an educational project designed for the Czech Patient Organizations, for which it strives to find the solutions of their main problems and to help to defend their rights. The project was launched in 2012 and behind his birth stands Association of Innovative Pharmaceutical Industry (AIFP).
Cílem spolku ANGELMAN CZ, spolek je podporovat a sdružovat rodiny pečující o děti se vzácným Angelmanovým syndromem (40 rodin v celé ČR). Umožnit jim vzájemnou komunikaci a napomáhat v péči o těžce postižené děti poradenskou činností, organizováním pravidelných setkání, pořádáním odborných přednášek a šířením získaných informací mezi odbornou a širokou veřejností. Členy spolku jsou rodiče dětí.