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Week in Brief: Week ending 3rd October

What’s been going on in the life sciences world this week? Check out Week in Brief for an overview of the biggest news from the last seven days.

Parkinson’s trigger visualised in the human brain. For the first time, researchers have visualised protein clusters in the brain, known as Lewy bodies, that trigger Parkinson’s disease. The new method for visualisation also helped the team to quantify the clusters and observe the disease in its early stages.

Catalogue of DNA ‘scar’ types published. Scientists have identified and characterised 20,000 different types of scars that remain in DNA after damage is repaired. They have published this information in a portal called the human REPAIRome, which could help to inform decisions around cancer treatment, for example.

Two different genetic trajectories for autism identified. A large-scale study has found that genetic profiles differ between those diagnosed with autism early or later in life. Individuals diagnosed later also have an increased risk of mental health conditions.

Gene therapy selectively kills cancer cells. Results of a preclinical trial have shown that a targeted gene therapy can kill cancer cells caused by the Kaposi’s sarcoma-associated herpesvirus. Not only was the therapy effective at removing cancer cells in mice, it also left healthy cells intact. 

Polygenic risk score could be used to predict breast cancer. Research has shown that a polygenic risk score, calculated after a blood test, could help to predict whether an individual is at risk of invasive breast cancer after ductal or lobular carcinoma in situ. It is currently difficult to predict how these conditions will progress, and this new tool could lead to earlier intervention.

Long COVID risk in children increases following reinfection. A study of over 460,000 children and adolescents has shown that the chances of developing long COVID double following a second infection. The work supports the need for ongoing prevention measures such as booster vaccinations. 

Disrupted neurons drive Parkinson’s disease symptoms. Researchers have discovered that mutations in a risk gene for Parkinson’s disrupt communication between neurons. This drives cognitive decline, a key characteristic of the condition, and is in contrast to motor deficits, which are linked to toxic protein build up in the brain.

Diabetes diagnosis delayed in Black and South Asian men. Undiagnosed G6PD deficiency, a genetic condition prevalent in Black and South Asian men, could lead to delays in diabetes diagnosis by skewing the results of commonly used diagnostic tests. The researchers behind these findings suggest that more G6PD screening could help to ensure that patients receive the appropriate care.

Autoimmune-associated gene function revealed. Scientists have finally discovered the function of the DIORA1 gene, which has long been associated with autoimmune disorders such as rheumatoid arthritis. The work revealed that the gene is involved in a cell’s ability to move by binding to a group of kinases responsible for cell mobility.

New tool to track ovarian cancer evolution developed. Researchers have designed a new tool that combines single-cell sequencing and structural analysis to track the evolution of ovarian cancer cells and to identify those that are sensitive or resistant to treatment. By following the cancer cells’ journey after initial treatment, recurrence can be spotted and treated earlier.

Check out last week’s Week in Brief here.