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David Martin, MD, Senior Scientist, Children's Hospital Oakland Research Institute
Most inherited diseases become apparent in childhood and many result in symptoms without a specific diagnosis. This is a difficult situation for parents and clinicians, and often subjects the child to a diagnostic odyssey.
The project will advance precision medicine by developing methods that improve our ability to identify mutations that cause inherited diseases and to find the cause of previously difficult to diagnose genetic conditions.
This will be accomplished by a full genome analysis that provides a more complete picture of abnormalities in an individual’s DNA than is currently achieved.
Interpretation of whole genome data remains a challenge, though, and the team plans to leverage the findings from this project for even greater understanding of these often devastating childhood conditions, by partnering with other international teams with the long-term goal of creating a catalogue of all DNA variants that can cause human disease.
This project will also actively seek to include racially and ethnically diverse patient groups, which have traditionally been under-recruited for genetic analysis, thus adding novel and important information to improve diagnosis and care for the population at large.