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Undiagnosed disease to rare disease discovery: Perspectives from a patient family

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Abstract

One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy?  This talk highlights the power of precision medicine with the story of the ADCY5 gene variant and the journey of a family who went from being n of 1 to having fifty stem cell lines. The mother of a patient shares her perspective and determination to find a diagnosis and advancements in science and technology that will help hasten the path towards treatment.


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Undiagnosed disease to rare disease discovery: Perspectives from a patient family


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