Research has been gathering momentum over the past few years, enabling us to learn more about this complex condition. In the hope that we can improve quality of life for patients and seek further treatments.
It was a tremendous boost for the AS charity to secure Big Lottery funding of £350,000 (E406,000) to underpin a major research project aimed at providing insights, that could possibly benefit thousands of people suffering with rare diseases and a range of other conditions across the world.
Alström Syndrome UK partnered with the University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Birmingham Children’s Hospital, Queen Elizabeth Hospital, Birmingham, and Torbay Hospital in South Devon. Stem cell research is a fundamental part of both the Big Lottery project and the research into dysfunctioning of cilia – an important part of cells in many parts of the body.
The patient database developed by Alström Syndrome UK since 1998 is provided and has now merged into a European database, which gave the research programme a head start head start:
- Computer software has been developed initially to analysis all the data and update past records.
- Cell studies and detailed tissue examinations are being undertaken using skin biopsies donated by patients with Alström Syndrome (AS).
- Additional clinic tests have been introduced to explore the AS phenotype (characteristics displayed by an organism) and confirm genetic patterns and a programme has begun to raise awareness to uncover undiagnosed cases of Alström.