Founded in May 2014, this association was established to allow more children living with rare diseases to achieve a genetic diagnosis.

 

One focus of the work being funded by the Association is to harness the skills of researchers to develop better computational tools to identify the genetic causes of rare diseases using NextGen sequencing data.

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A second focus of the work is to carry out functional studies that will help doctors understand how each genetic variant associated with rare disease affects the function of cells in the body.

 

The research funded by the Tèa Lake and the Rare Disease Association Inc will help doctors to diagnose the genetic basis to rare diseases and find the best medical treatments to help the person living with a rare disease.

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Sometimes finding the genetic basis to a rare disease may not change the clinical outcome. However, it allows families to connect with other families with similar rare diseases world-wide, helping them to understand more about the disease and to plan for the future. Most families feel that they achieve some kind of comfort by at least understanding the medical basis to rare disease.