A single mutation in the HBB gene causes sickle cell disease by changing the shape and function of red blood cells. This article explores the biology behind the disease, its connection to malaria, and how CRISPR gene editing therapies such as Casgevy and India’s Birsa‑101 aim to correct the mutation at its source.
Every human genome contains millions of genetic variants. Most are harmless but occasionally a single change can cause a serious disease. Finding that one variant is a needle‑in‑the‑haystack problem and increasingly a challenge tackled with machine learning.
Missense variants, that is, single amino acid substitutions in proteins, are often difficult to assess. Our machine learning workflow uses protein structure-based graph embeddings to predict the pathogenicity of such variants. In doing so, the structural information enhances existing approaches like the CADD score and provides new insights for genomic medical diagnostics.
With our ‘Data Science for Everyday Work’ training course, we aim to help companies bridge the gap in practical knowledge when implementing machine learning projects and foster a shared understanding within the team.
We also offer individual modules that can be combined as desired, and we provide consultancy services for your specific data challenges.
At this year’s Minds Mastering Machines (M3) conference in Karlsruhe, the focus was on best practices for GenAI, RAG systems, case studies from different industries, agent systems, and LLM, as well as legal aspects of ML. We gave three talks about our projects.