Windows of Hope Research
The past few decades have seen enormous advances in genetic technologies. The use of these to investigate inherited conditions has led to the identification of many new disease genes, which in turn has led to a better understanding of the cellular and biochemical basis of these conditions. This knowledge is aiding the development of new strategies for treatment and disease prevention.
Recent investigations have shown that a particular clinical presentation, for example hereditary spastic paraplegia, is often caused by a number of different genes. As researchers are discovering some of the genes responsible it is becoming clear that the functions of these genes are often related. Consequently, the findings from the study of one form of hereditary spastic paraplegia often benefit studies of other forms of the disease. It is therefore important to study a number of different forms of a condition in combination to gain the best possible insight into the disease process.
The Windows of Hope team in collaboration with a large number of clinicians and researchers at leading international institutions in the US and worldwide is undertaking cutting edge research into the conditions that we have seen as part of this project. The Windows of Hope research laboratories have extensive research projects ongoing in these areas:
Hereditary spastic paraplegia (and related motor neuron conditions):
- Troyer syndrome
- Mast syndrome
- Hershberger syndrome
- Spastic ataxia
- Developmental delay with spasticity
- Infantile seizures (GM3 synthase deficiency)
Cystic kidney disease
Click here to see the publications from our related gene identification projects.