About the association
K založení asociace Asgent nás inspiroval náš syn Oliver, kterému byl diagnostikován Angelmanův syndrom. Když se dozvíte, že je vaše dítě nevyléčitelně nemocné, máte mnoho otázek a málo odpovědí. Rozhodli jsme se podporovat ty, kteří dělají vše proto, aby nalezli odpovědi na otázky všech rodičů dětí s nevyléčitelným vzácným onemocněním. Podporujeme vědce, kteří zkoumají, jak tyto nemoci vyléčit. Na světě je 350 000 000 lidí se vzácným onemocněním. To je více, než lidí s rakovinou a AIDS dohromady. Jednou z cest, jak pomoci nám i dalším 350 milionům lidí na světě, je podporovat vědu a výzkum. Sdružujeme všechny, kteří se chtějí aktivně podílet na propojování vědy a pacientů.
WHO WE ARE
We are a non-profit organization whose main mission is to connect the world of science, medicine and patients. In 2018, we initiated basic research into treatments for rare diseases.
Notification of diagnosis
It all started when the doctors told us that our little Oliver would never be like the others. He was diagnosed with a rare genetic condition called Angelman Syndrome, often referred to as "happy baby syndrome." There are around 100 children diagnosed with this condition in the Czech Republic. It manifests itself initially with delayed development and later with reduced intellect, difficulty in walking and very often epilepsy and sleep disorder. Children like Oli will never speak and will not be independent. It was a hard blow, the hardest blow you can imagine in your life. But if it wasn't for Oliver, the Gene Therapy Association would never have been formed. However, we have come to the conclusion that we can no longer continue our struggle alone. As with everything else in life, solidarity is the key to progress and success.
How the idea came about
We decided to do something unique for Oli. We can help not only him, but also many other patients with a rare genetic disease. We contacted Czech scientists and convinced them to start basic research on Angelman syndrome.
This is the first time that patients themselves in the Czech Republic have initiated research into a rare disease - Angelman syndrome.
In the beginning, the idea of initiating research on the disease our son was diagnosed with seemed like complete science fiction. But after we became familiar with terms like basic research, applied research, clinical trials and molecular biology we were able to peripherally penetrate the world of science. We broke it down into small pieces and got down to the individual scientists who put on their white coats and lock themselves in their labs every day. And after we found a world-class research facility here in the Czech Republic that has achieved incredible results in a few years of operation, even in the field of rare diseases, the idea became a reality. We found that supporting research is actually not unrealistic at all. Together, we can help change an incurable disease into a curable one. The hope rests with gene therapy.
IN THE WORDS OF THE FOUNDERS OF THE ASSOCIATION
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We see supporting research as one important way to help people with rare diseases. Not only can we help Oliver, but such research benefits society as a whole. We can completely change the fates or improve the quality of life of many families, even beyond the borders of the Czech Republic.
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TechSoup Czech Republic develops the technological capacity of nonprofit organizations and public libraries in the Czech Republic by providing access to software, hardware, IT services, and related education, enabling these organizations to more effectively and easily achieve their goals and fulfill their missions.
The Czech Association for Rare Diseases (ČAVO) was founded in March 2012. The mission of the ČAVO is to bring together organisations of patients with rare diseases and individual patients, to represent their interests and to strengthen awareness of the specific issue of rare diseases among health professionals, representatives of national and international institutions and the public.
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.
The Academy of Patient Organisations (APO) is an educational and development project for Czech patient organisations. It seeks to contribute to solving the main problems and to enable a better understanding of patients' rights, needs and obligations. The project was launched in 2012 and was the brainchild of the Association of Innovative Pharmaceutical Industry (AIFP).
The aim of ANGELMAN CZ is to support and unite families caring for children with rare Angelman syndrome (40 families in the whole Czech Republic). To enable them to communicate with each other and to help them in caring for severely affected children by consulting activities, organizing regular meetings, organizing professional lectures and disseminating the obtained information among professionals and the general public. The members of the association are parents of children.
The Corporate Social Responsibility Association is the largest Corporate Social Responsibility (CSR) and Sustainable Development Goals (SDGs) initiative from the UN in the Czech Republic. The vision of the Association is to make social responsibility and sustainability a natural part of business and the functioning of every organization in the Czech Republic. We are proud to have received a one-year grant from this organisation and to become a member.
The Angelman Syndrome Alliance (ASA) is a partnership of small organizations from around the world that are focused on supporting people with Angelman Syndrome, their loved ones, carers and clinicians. By combining resources, knowledge and a relentless dedication to initiate change, the ASA is uniquely positioned to drive advances in scientific knowledge about Angelman Syndrome. As a rare disease, funding for scientific research from major funders is limited. The ASA is breaking new ground, utilizing limited resources from around the globe in a smarter manner.
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Annual Report 2018
Annual Report 2019