Annual Ataxia Conference 2016

Research’s Elite Gather

Over the course of 3 days, junior and senior scientists gave presentations on the progress of their research. They talked about the different genes that are important in the function of the Cerebellum. This part of the brain controls movement and balance. Mutations in certain genes that are found here interrupt how the cerebellum fulfils its role.

Many have not only identified the specific genes, but also the process by which they affect function. They also talked about the importance of models, both animal and numerical. As these allow study of cause and effect.

Before treatments can be developed and tested these processes need to be fully understood. A lot of the genes are involved in similar roles. This is useful for the ataxias as once one ataxia is better understood, the door is opened for understanding the other types.

Trial design was also discussed as rare diseases make recruiting patients difficult. Orphan drugs need to be channeled through to FDA approval by appropriate means but not at the compromise of patient safety.

Members and Scientists meet

The researchers meeting coincided with the annual member’s of the national ataxia foundation conference (NAF). This is the US support organization for people with ataxia. Many of its members are from other countries however.

This meeting gave the opportunity for those affected by ataxia to meet with the experts. Sessions were arranged according to what type of ataxia people had. This meant they got to discuss what was relevant to them.

You can access the presentations given by the researchers to the members online

The meeting highlighted the important role of physical therapy to ataxia. Studies based on speech therapy and also balance exercises showed marked improved in gait and coordination. Members are advised to seek professional/medical advice before commencing new therapies. However exercise is possible even in presence of profound disabilities.

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