The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
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Enrollment of study participants
Timeframe: 5 years
Collection of biospecimens
Timeframe: 5 years
Partnered research with external entities
Timeframe: 5 years
Future IND applications
Timeframe: 5 years
Determine natural history and clinical baseline
Timeframe: 5 years
Determine individualized therapeutic efficacy
Timeframe: 5 years
Publish findings
Timeframe: 5 years