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Mining the diagnosis of rare disease with limited resources

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From a young age, my fascination with life sciences led me to follow in the footsteps of my grandmother, a pediatrician, whose name I proudly bear. After graduating from Tbilisi State Medical University in 2004, I pursued my PhD in neuroscience under the guidance of my lifelong mentor Elene Abzianidze. However, it was not until my clinical training in neurology in 2015, when seeing children with rare neurological diseases, that I realized the importance of precise diagnosis.

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References

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Correspondence to Tinatin Tkemaladze.

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Tkemaladze, T. Mining the diagnosis of rare disease with limited resources. Nat Genet 56, 1323 (2024). https://doi.org/10.1038/s41588-024-01818-3

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  • DOI: https://doi.org/10.1038/s41588-024-01818-3

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