Mining the diagnosis of rare disease with limited resources

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. Access through your institution Buy or subscribe This is a preview of subscription

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* Learn about institutional subscriptions * Read our FAQs * Contact customer support REFERENCES * Tkemaladze, T. et al. _Clin. Dysmorphol._ 32, 97–105 (2023). Article  PubMed  Google Scholar

  * Kvaratskhelia, E., Tkemaladze, T. _Rare Diseases in Georgia and Beyond, Integrated Approach_ (Georgian Society of Medical Genetics and Epigenetics, 2023). * Tkemaladze, T., Bregvadze,

K., Kvaratskhelia, E., Abzianidze, E. & Davitaia, T. _Front. Med._ 10, 1281049 (2023). Article  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS *

Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia Tinatin Tkemaladze Authors * Tinatin Tkemaladze View author publications You can also search

for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Tinatin Tkemaladze. ETHICS DECLARATIONS COMPETING INTEREST The author declares no competing interests. RIGHTS

AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Tkemaladze, T. Mining the diagnosis of rare disease with limited resources. _Nat Genet_ 56, 1323 (2024).

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