Jordi Abante/Caterina Fuses (UB) — Using AI to discover genetic modifiers in Huntington’s disease

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Check this Success Story at our LinkedIn: Using AI to discover genetic modifiers in Huntington’s disease

💡🧬Why do two people with the same genetic mutation develop Huntington's with decades of difference?🧬💡

Huntington's disease is a neurodegenerative disease that is inherited. It is caused by a mutation that all patients' have, a CAG repeating pattern in their genes. However, the age when the symptoms appear is really different in each patient, and hadn't an explanation before. 

The team led by Jordi Abante Llenas and Caterina Fuses addressed this challenge with a new approach: analysing more than 9.000 Huntington's disease genomes with advanced and multimodal AI methods.

🔎𝐖𝐡𝐚𝐭 𝐭𝐡𝐞𝐲 𝐟𝐨𝐮𝐧𝐝?🔎 

🔵 The biological mechanisms that defined the symptoms onset depends on the CAG repetition length of the patient. For short CAG repetitions, DNA repair dominates, while when they are long protein repair does.
🔵 They identified new and known genes that define the symptom's age onset

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