Genetics Study

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ABOUT MANTON CENTER

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The Manton Center at Boston Children’s Hospital works with the Harvard Medical School Teaching Hospital. The Manton Center for Orphan Disease Research was created to develop new methods for understanding, diagnosing, and treating rare genetic conditions and to apply this knowledge to make fundamental scientific advances with broad implications for human health. 

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ABOUT THIS STUDY

 

Our study accepted samples from 10 families with multiple sufferers of hypnic jerking. Whole Exome Testing took place. Their cumulative genetics were compared. Although no common gene indicators were identified across the sample, there were indicators that spoke to the relevance of follow-up genetic studies. 

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OUR HOPE

 

The hope is that we continue these studies to gather more information on genetic mutation patterns present with hypnic jerking sufferers. This in turn might inform treatment of the condition. More details can be found in our blog focused on genetic mutations.