That simple act of wearing your jeans on Jeans for Genes Day has made a genuine difference to the lives of many, many children affected by genetic disorders. These have included the provision of local clinics, away days and get together days, helplines, conferences outreach work, training of volunteers, respite care and home visits plus support for parents and siblings.
25 extra-ordinary children
25 extra-ordinary achievements
- Pioneering genetic research and treatments at GOSH. Major funding of start of the art gene therapy laboratory which enabled some of the first gene therapy trials in the world for immunodeficiency diseases.
- Funding of major facilities at ICH. Medical Molecular Biology Unit. Research into role of specific genes, a lab investigating the genetics of childhood brain degeneration, part funding of the Camellia Botnar Lab for research into childhood leukaemia and other childhood cancers. Lab for genetic studies into childhood pain, infectious and rheumatoid diseases.
- Funding start of the art equipment at ICH. DNA sequencing equipment and Gene Chip facilities, revolutionising the way we look at the function of genes in health and disease and lunch functioning equipment, enabling studies of childhood respiratory diseases, including cystic fibrosis.
- Landmark database on information on patients with CGD.
- Established gold standard nursing service – provided only 2 CGD clinical nurse specialists in the country.
- Advances in scientific understanding of MPS diseases.
- Development of UK wide programme of specialist MPS regional clinics.
- Freephone Haemophilia Hotline
- First ever medial research post in the UK into Alstrom syndrome and Birmingham children’s hospital.
- Launch of our benefiting charity programme in 2002. Life changing experience for the charities, crucial national platform.
- Founded Genetic Disorders UK in 2011 as a national umbrella support charity with a mission to be the leading source of information and support for both those affected by genetic disorders, and the charities and patient groups that support them, by bringing together everyone’s combined experience in a place when it can be shared.
- Launched GDUK telephone and helpline service in 2014, responding to enquiries regarding genetic disorders, specific genes, inheritance, genetics testing and genetic services.
- The Partner’s Symposium held in 2015 and 2016, bringing together the leaders of the UK-based genetic disorder charities and patient groups. Providing delegates with the contacts, information, ideas and inspiration to make a difference to the impact of their organisations.
- Free educational resources for key stages 1-4. A range of short films narrated by affected children and their siblings, that explain to school pupils what life is like when you have a genetic disorder.