Victoria Grey, diagnosed with sickle cell disease (SCD) at three months, defied a seven-year life expectancy, suffering for 34 years. Traditional treatments failed until she participated in a groundbreaking CRISPR trial, successfully reactivating healthy hemoglobin production. Victoria is now pain-free, showcasing the potential of genetic medicine to cure chronic conditions.

For over a century, traditional medicine offered pills and surgery, effectively managing many conditions. However, it often falls short for genetic diseases. The advent of precision therapies, such as CRISPR and AAV gene therapy, marks a revolutionary shift, curing root causes rather than managing symptoms, thus transforming patient outcomes.

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The gut microbiome significantly influences health, particularly concerning colon cancer. Research reveals links between specific microbes and the disease, especially in high-risk individuals. Understanding gut microbiota dysbiosis and its mechanisms can guide dietary choices to prevent colon cancer. While microbiome testing is evolving, widespread accessibility remains a challenge.

Next-generation sequencing (NGS) is essential for clinical diagnostics, but limitations in variant detection arise from challenging genomic regions and low-frequency variants. Improvements in long-read sequencing and bioinformatics may enhance test accuracy. Additionally, standardization of workflows and the use of commutable reference materials are critical for reliable genetic testing across laboratories.

PhD in Microbial Genomics, exciting new Doctoral Training Programme in Microbial Genomics for Health Protection in collaboration with the UK Health Security Agency (UKHSA) launches

Promising beginnings The story of 23andMe is full of twists and turns. It started as the first direct-to-consumer (DTC) genomics company. It promoted testing for ancestry, carrier screening and genetic predispositions to a variety of diseases and some health-related conditions. 23andMe managed to gain FDA approval for returning some of the health-related results. However, it has been struggling to create a sustainable business model.