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Kompletní genomy pro personalizovanou medicínu budoucnosti | Monika Čechová | TEDxMasarykUniversity
TEDx Talks· 2025-07-15 15:25
DNA Sequencing & Personalized Medicine - DNA analysis can reveal individual predispositions to diseases, drug effectiveness, and metabolic rates, paving the way for personalized medicine [1][3][4] - Current hospital DNA sequencing typically reads short sequences (around 250 letters), while advanced technologies can read over 1 million letters, significantly improving accuracy [10] - The Telomir consortium successfully sequenced the remaining 8% of the human genome previously missing from databases [12][13] - Complete chromosome sequencing, including the Y chromosome, is now achievable, providing comprehensive genetic information [13][14] Genomic Insights - Human DNA consists of 3 billion letters from each parent, with variations occurring roughly every 1 in 1,000 letters compared to every 1 in 100 letters in chimpanzees [5][6] - DNA, viewed as a text file, occupies only 6 GB of storage, highlighting the manageability of genomic data [7][8] - Telomeres, repetitive DNA sequences protecting chromosome ends, shorten with each cell division (approximately 50 divisions), acting as a safeguard against uncontrolled cell proliferation [14][15] - Imbalances in chromosome numbers due to centromere issues can lead to early embryonic development problems and increased miscarriage risk [17][18] - Repetitive DNA regions on chromosomes 13, 14, 15, 21, and 22 are prone to rearrangements, potentially causing conditions like Down syndrome, occurring in approximately 1 out of 800 births [18][19] Challenges & Future Prospects - Despite technological advancements, only a few labs globally have expertise in complete chromosome sequencing, and the cost remains high (over 100,000 Czech Koruna per genome) [28] - The integration of complete DNA sequencing into healthcare records and personalized medicine faces challenges due to community conservatism and limited experience [20][21][29] - The industry anticipates that decreasing costs and increased informational value will drive the adoption of complete DNA sequencing, leading to personalized medicine approaches [29][30]