Illuminating the Dark Genome – New Insights into the Genetic Basis of Disease

More than 20 years after the Human Genome Project, enabled by new sequencing technologies, researchers are making progress in exploring the vast non-coding space that constitutes 98% of our genomes. This non-coding, or "dark," DNA harbors elements with important regulatory functions in health and disease. But pinpointing disease-relevant DNA elements within this massive DNA space can be like searching for a needle in a haystack. This difficult search can be eased by artificial intelligence (AI)-based tools, which predict the context-dependent relevance of certain DNA elements and highlight their role in different diseases, from cancer to rare neurodegenerative disorders.
For Episode 34 of the BioRevolution podcast, Andreas Horchler and Louise von Stechow are joined by CTO and co-founder of Berlin-based biotech LUCID Genomics, Dr. Hossein Moeinzadeh, to discuss the exciting field of non-coding DNA and how LUCID’s AI algorithm can help make sense of non-coding DNA — and how this could improve diagnoses of rare diseases and beyond.

Learn more about LUCID genomics AI tool here: https://www.lucid-genomics.com/technology

Find Dr. Hossein Moeinzadeh here: https://www.linkedin.com/in/mhossein-moeinzadeh/

Disclaimer:
Louise von Stechow & Andreas Horchler and their guests express their personal opinions, which are founded on research on the respective topics, but do not claim to give medical, investment or even life advice in the podcast.

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via Unsplash.
Further reading:

1. https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project


2. https://www.the-scientist.com/how-many-genes-are-in-the-human-genome-71673


3. https://pubmed.ncbi.nlm.nih.gov/15496913/


4. https://www.nature.com/articles/538275a


5. https://www.nature.com/articles/512009e


6. https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00056-1/fulltext#:~:text=Around%2080%25%20of%20rare%20diseases%20have%20a%20genetic,a%20rare%20disease%20die%20before%20age%205%20years.


7. https://www.science.org/doi/10.1126/science.aak9849


8. https://www.cell.com/cell/abstract/S0092-8674(24)01206-6


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11. https://www.science.org/doi/10.1126/science.abj6987


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33. https://www.ft.com/content/2851edf3-4a5c-42a0-b3e5-36fec787f808


34. https://www.science.org/doi/10.1126/scitranslmed.adj9283


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36. https://pmc.ncbi.nlm.nih.gov/articles/PMC11167095/


37. https://www.bbc.com/future/article/20230412-the-mystery-of-the-human-genomes-dark-matter


38. https://evaxion.ai/


39. https://www.nature.com/articles/s41587-021-01088-y


40. https://nachrichten.idw-online.de/2024/09/02/eur1-3m-pre-seed-funding-for-lucid-genomics-to-fine-tune-their-ai-models-for-diagnostics-and-biomarker-discovery


41. https://www.biospace.com/press-releases/dark-genome-biotech-hervolution-therapeutics-announces-11-7m-series-a-to-advance-treatments-for-cancer-diseases-of-aging


42. https://geneuro.ch/en/herv-approach/pipeline-overview/


43. https://rometx.com/home/


44. https://www.labiotech.eu/trends-news/lncrna-dark-genome-buzz/


45. https://www.hayatx.com/


46. https://www.pharmaceutical-technology.com/news/enara-bio-secures-32-5m-for-dark-antigen-cancer-therapies/